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<!--
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UID=332307
|
||
ConceptID=C1836855
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Vacuolated lymphocytes</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332307</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836855</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Enlarged lysosomal vacuoles in lymphocytes</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001922">HP:0001922</a></td></tr>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Vacuolated lymphocytes</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867388" ref="tree=MeSH" title="MedGen record for Abnormality of the immune system">Abnormality of the immune system</a></span><ul><li><span class="TLline"><a href="/medgen/1702861" ref="tree=MeSH" title="MedGen record for Abnormal immune system morphology">Abnormal immune system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869190" ref="tree=MeSH" title="MedGen record for Abnormal cellular immune system morphology">Abnormal cellular immune system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/508852" ref="tree=MeSH" title="MedGen record for Abnormal leukocyte morphology">Abnormal leukocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/66370" ref="tree=MeSH" title="MedGen record for Abnormal lymphocyte morphology">Abnormal lymphocyte morphology</a></span><ul><li><span class="matched_ds">Vacuolated lymphocytes</span><ul><li><span class="TLline"><a href="/medgen/1863799" ref="tree=MeSH" title="MedGen record for PAS-positive lymphocyte vacuolization">PAS-positive lymphocyte vacuolization</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_112">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_5288"><div><strong>Fucosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5288</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0016788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival (Kousseff et al., 1976).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_7467"><div><strong>Deficiency of alpha-mannosidase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7467</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0024748</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The clinical phenotype of alpha-mannosidosis varies considerably, with a wide spectrum of clinical findings and broad variability in individual presentation. At least three clinical types have been suggested in untreated individuals: mild (clinically recognized after age ten years, with myopathy, slow progression, and absence of skeletal abnormalities); moderate (clinically recognized before age ten years, with myopathy, slow progression, and presence of skeletal abnormalities); and severe (obvious progression leading to early death from primary central nervous system involvement or infection). Core features of untreated individuals generally include early childhood-onset non-progressive hearing loss, frequent infections due to immunodeficiency, rheumatologic symptoms (especially systemic lupus erythematosus), developmental delay / intellectual disability, low tone, ataxia, spastic paraplegia, psychiatric findings, bone disease (ranging from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis), gastrointestinal dysfunction (including diarrhea, swallowing issues / aspiration, and enlarged liver and spleen), poor growth, eye issues (including tapetoretinal degeneration and optic nerve atrophy), cardiac complications in adults, and pulmonary issues (including parenchymal lung disease). However, with the advent of enzyme replacement therapy, the natural history of this condition may change. Long-term velmanase alfa (VA) treatment outcomes are still being elucidated, but may include improvement in hearing, immunologic profile, and quality of life (improved clinical outcomes for muscle strength). Similarly, affected individuals who underwent hematopoietic stem cell transplantation (HSCT) experienced improvement in development (with preservation of previously learned skills), ability to participate in activities of daily living, stabilization or improvement in skeletal abnormalities, and improvement in hearing ability, although expressive speech and hearing deficiencies remained the most significant clinical problems after HSCT.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7467">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78649"><div><strong>Aspartylglucosaminuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78649</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268225</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Aspartylglucosaminuria is a lysosomal storage disorder characterized by developmental delay, intellectual disability, behavioral manifestations (hyperactivity in young children, anxiety and restlessness in adolescence, and apathy in adulthood), recurrent infections, musculoskeletal features, and characteristic craniofacial features (prominent supraorbital ridges, hypertelorism, periorbital fullness, short nose with broad nasal bridge, thick vermilion of the upper and lower lips, and macroglossia) that become more prominent with age. Additional neurologic manifestations can include seizures, poor balance and coordination, and progressive cerebral atrophy in adulthood. Macrocephaly is common. Musculoskeletal features include lordosis, scoliosis, and arthritis in adolescents and young adults; vertebral dysplasia and/or rib cage abnormalities; and progressive muscle wasting, joint contractures, bursitis, and osteoporosis in adulthood. Skin manifestations (facial seborrhea, rosacea, and angiofibromas), gastrointestinal manifestations, neutropenia, and thrombocytopenia occur in some individuals. The clinical manifestations of aspartylglucosaminuria worsen with age, and adults have progressive psychomotor decline.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78649">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75665"><div><strong>Infantile GM1 gangliosidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75665</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268271</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). The phenotype of GM1 gangliosidosis constitutes a spectrum ranging from severe (infantile) to intermediate (late-infantile and juvenile) to mild (chronic/adult). Type I (infantile) GM1 gangliosidosis begins before age 12 months. Prenatal manifestations may include nonimmune hydrops fetalis, intrauterine growth restriction, and placental vacuolization; congenital dermal melanocytosis (Mongolian spots) may be observed. Macular cherry-red spot is detected on eye exam. Progressive central nervous system dysfunction leads to spasticity and rapid regression; blindness, deafness, decerebrate rigidity, seizures, feeding difficulties, and oral secretions are observed. Life expectancy is two to three years. Type II can be subdivided into the late-infantile (onset age 1-3 years) and juvenile (onset age 3-10 years) phenotypes. Central nervous system dysfunction manifests as progressive cognitive, motor, and speech decline as measured by psychometric testing. There may be mild corneal clouding, hepatosplenomegaly, and/or cardiomyopathy; the typical course is characterized by progressive neurologic decline, progressive skeletal disease in some individuals (including kyphosis and avascular necrosis of the femoral heads), and progressive feeding difficulties leading to aspiration risk. Type III begins in late childhood to the third decade with generalized dystonia leading to unsteady gait and speech disturbance followed by extrapyramidal signs including akinetic-rigid parkinsonism. Cardiomyopathy develops in some and skeletal involvement occurs in most. Intellectual impairment is common late in the disease with prognosis directly related to the degree of neurologic impairment. MPS IVB is characterized by skeletal dysplasia with specific findings of axial and appendicular dysostosis multiplex, short stature (below 15th centile in adults), kyphoscoliosis, coxa/genu valga, joint laxity, platyspondyly, and odontoid hypoplasia. First signs and symptoms may be apparent at birth. Bony involvement is progressive, with more than 84% of adults requiring ambulation aids; life span does not appear to be limited. Corneal clouding is detected in some individuals and cardiac valvular disease may develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155549"><div><strong>Neuronal ceroid lipofuscinosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155549</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0751383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155549">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_203367"><div><strong>Sialic acid storage disease, severe infantile type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>203367</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1096902</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/203367">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_203368"><div><strong>Salla disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>203368</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1096903</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Free sialic acid storage disorders (FSASDs) are a spectrum of neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Historically, FSASD was divided into separate allelic disorders: Salla disease, intermediate severe Salla disease, and infantile free sialic acid storage disease (ISSD). The mildest type was Salla disease, characterized by normal appearance and absence of neurologic findings at birth, followed by slowly progressive neurologic deterioration resulting in mild-to-moderate psychomotor delays, spasticity, athetosis, and epileptic seizures. Salla disease was named for a municipality in Finnish Lapland where a specific founder variant is relatively prevalent. However, the term Salla has been used in the literature to refer to less severe FSASD. More severe FSASD is historically referred to as ISSD, and is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly; death usually occurs in early childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/203368">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_332304"><div><strong>Neuronal ceroid lipofuscinosis 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332304</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1836841</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/332304">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_376792"><div><strong>Neuronal ceroid lipofuscinosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376792</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN5 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376792">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340540"><div><strong>Neuronal ceroid lipofuscinosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340540</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1850451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4 (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q22; CLN6A (601780) and CLN6B (204300), both caused by mutation in the CLN6 gene (606725) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), both caused by mutation in the CLN8 gene (607837) on 8p23; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q21; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11. CLN9 (609055) has not been molecularly characterized. A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340540">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_924303"><div><strong>Sialidosis type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924303</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4282398</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease. Classification Lowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924303">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aspartylglucosaminuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_7467" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of alpha-mannosidase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_5288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fucosidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile GM1 gangliosidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal ceroid lipofuscinosis 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_203368" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Salla disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_203367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sialic acid storage disease, severe infantile type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_924303" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sialidosis type 2</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32003481">Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taconet S,
|
||
Dreux S,
|
||
Guimiot F,
|
||
Pettazzoni M,
|
||
Allaf B,
|
||
Spaggiari E,
|
||
Rosenblatt J,
|
||
Khung-Savatovsky S</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Apr;40(5):605-611.
|
||
Epub 2020 Feb 11
|
||
doi: 10.1002/pd.5657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32003481" target="_blank">32003481</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22vacuolated%20lymphocytes%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32003481">Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taconet S,
|
||
Dreux S,
|
||
Guimiot F,
|
||
Pettazzoni M,
|
||
Allaf B,
|
||
Spaggiari E,
|
||
Rosenblatt J,
|
||
Khung-Savatovsky S</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2020 Apr;40(5):605-611.
|
||
Epub 2020 Feb 11
|
||
doi: 10.1002/pd.5657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32003481" target="_blank">32003481</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16754648">Batten disease: features to facilitate early diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Collins J,
|
||
Holder GE,
|
||
Herbert H,
|
||
Adams GG</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2006 Sep;90(9):1119-24.
|
||
Epub 2006 Jun 5
|
||
doi: 10.1136/bjo.2006.091637.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16754648" target="_blank">16754648</a><a href="/pmc/articles/PMC1857407" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7793263">Alpha-mannosidosis: the first Turkish case.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camur S,
|
||
Coşkun T,
|
||
Kiper N</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr Jpn</span>
|
||
1995 Apr;37(2):230-2.
|
||
doi: 10.1111/j.1442-200x.1995.tb03305.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7793263" target="_blank">7793263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7149616">The clinical course of mannosidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Autio S,
|
||
Louhimo T,
|
||
Helenius M</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Res</span>
|
||
1982 Apr;14(2):93-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7149616" target="_blank">7149616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1008071">Clinical manifestations of mannosidosis--a longitudinal study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yunis JJ,
|
||
Lewandowski RC Jr,
|
||
Sanfilippo SJ,
|
||
Tsai MY,
|
||
Foni I,
|
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Bruhl HH</span><br />
|
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<span class="medgenPMjournal">Am J Med</span>
|
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1976 Dec;61(6):841-8.
|
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doi: 10.1016/0002-9343(76)90408-3.
|
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<span class="bold">PMID: </span><a href="/pubmed/1008071" target="_blank">1008071</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vacuolated%20lymphocytes%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37227793">Vacuolated lymphocytes, a leading piece of diagnostic evidence for a rare storage disorder.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jamali E,
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Ranjbaran R</span><br />
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<span class="medgenPMjournal">Blood</span>
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2023 May 25;141(21):2662.
|
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doi: 10.1182/blood.2023019735.
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<span class="bold">PMID: </span><a href="/pubmed/37227793" target="_blank">37227793</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34312842">Haemophagocytosis and atypical vacuolated lymphocytes in bone marrow and blood films after SARS-CoV-2 vaccination.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sassi M,
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Khefacha L,
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Merzigui R,
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Rakez R,
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Boukhriss S,
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Laatiri MA</span><br />
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Epub 2021 Jul 27
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doi: 10.1111/bjh.17660.
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<span class="bold">PMID: </span><a href="/pubmed/34312842" target="_blank">34312842</a><a href="/pmc/articles/PMC8444800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/22627044">Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Furusawa Y,
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Mizukami K,
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Yabuki A,
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Kuwamura M,
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Chang HS,
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Hossain MA,
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Rahman MM,
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Uddin MM,
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<span class="bold">PMID: </span><a href="/pubmed/22627044" target="_blank">22627044</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20633042">Vacuolated lymphocytes–a diagnostic clue.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Radhakrishnan K,
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Goel H,
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<span class="bold">PMID: </span><a href="/pubmed/20633042" target="_blank">20633042</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vacuolated%20lymphocytes%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (41)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34312842">Haemophagocytosis and atypical vacuolated lymphocytes in bone marrow and blood films after SARS-CoV-2 vaccination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sassi M,
|
||
Khefacha L,
|
||
Merzigui R,
|
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Rakez R,
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Boukhriss S,
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Laatiri MA</span><br />
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<span class="medgenPMjournal">Br J Haematol</span>
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2021 Dec;195(5):649.
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||
Epub 2021 Jul 27
|
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doi: 10.1111/bjh.17660.
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<span class="bold">PMID: </span><a href="/pubmed/34312842" target="_blank">34312842</a><a href="/pmc/articles/PMC8444800" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31926949">Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wright GA,
|
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Georgiou M,
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Robson AG,
|
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Ali N,
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Kalhoro A,
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Holthaus SK,
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Pontikos N,
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Oluonye N,
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de Carvalho ER,
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Neveu MM,
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Weleber RG,
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Michaelides M</span><br />
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<span class="medgenPMjournal">Ophthalmol Retina</span>
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2020 Apr;4(4):433-445.
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Epub 2019 Nov 13
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doi: 10.1016/j.oret.2019.11.005.
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<span class="bold">PMID: </span><a href="/pubmed/31926949" target="_blank">31926949</a><a href="/pmc/articles/PMC7479512" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20107902">PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Hagemans ML,
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Stigter RL,
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van Capelle CI,
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van der Beek NA,
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Winkel LP,
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van Vliet L,
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Hop WC,
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Reuser AJ,
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Beishuizen A,
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Epub 2010 Jan 27
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<span class="bold">PMID: </span><a href="/pubmed/20107902" target="_blank">20107902</a><a href="/pmc/articles/PMC2861182" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vacuolated%20lymphocytes%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37160316">Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Hussein S,
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Evans AG,
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Fitzsimmons JM,
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Leong N,
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Buldo M,
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Segal JP,
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Jajosky AN,
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Rothberg PG,
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Liesveld JL,
|
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Oltvai ZN</span><br />
|
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<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
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2023 Apr;9(2)
|
||
Epub 2023 May 9
|
||
doi: 10.1101/mcs.a006241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37160316" target="_blank">37160316</a><a href="/pmc/articles/PMC10240839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9763912">Congenital sialidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ovali F,
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Samanci N,
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Güray A,
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Akdoğan Z,
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Akdeniz C,
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Dağoğlu T,
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Petorak I</span><br />
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<span class="medgenPMjournal">Turk J Pediatr</span>
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<span class="bold">PMID: </span><a href="/pubmed/9763912" target="_blank">9763912</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/8740579">Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Piraud M,
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Froissart R,
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Mandon G,
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Bernard A,
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<span class="bold">PMID: </span><a href="/pubmed/8740579" target="_blank">8740579</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/7149616">The clinical course of mannosidosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Autio S,
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Louhimo T,
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Helenius M</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/7149616" target="_blank">7149616</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/1008071">Clinical manifestations of mannosidosis--a longitudinal study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yunis JJ,
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Lewandowski RC Jr,
|
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Sanfilippo SJ,
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Tsai MY,
|
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Foni I,
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Bruhl HH</span><br />
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<span class="medgenPMjournal">Am J Med</span>
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1976 Dec;61(6):841-8.
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doi: 10.1016/0002-9343(76)90408-3.
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<span class="bold">PMID: </span><a href="/pubmed/1008071" target="_blank">1008071</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vacuolated%20lymphocytes%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (17)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37160316">Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El Hussein S,
|
||
Evans AG,
|
||
Fitzsimmons JM,
|
||
Leong N,
|
||
Buldo M,
|
||
Segal JP,
|
||
Jajosky AN,
|
||
Rothberg PG,
|
||
Liesveld JL,
|
||
Oltvai ZN</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Mol Case Stud</span>
|
||
2023 Apr;9(2)
|
||
Epub 2023 May 9
|
||
doi: 10.1101/mcs.a006241.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37160316" target="_blank">37160316</a><a href="/pmc/articles/PMC10240839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32003481">Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Taconet S,
|
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Dreux S,
|
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Guimiot F,
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Pettazzoni M,
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Allaf B,
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Spaggiari E,
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Rosenblatt J,
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Khung-Savatovsky S</span><br />
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<span class="medgenPMjournal">Prenat Diagn</span>
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2020 Apr;40(5):605-611.
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||
Epub 2020 Feb 11
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||
doi: 10.1002/pd.5657.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32003481" target="_blank">32003481</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31926949">Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wright GA,
|
||
Georgiou M,
|
||
Robson AG,
|
||
Ali N,
|
||
Kalhoro A,
|
||
Holthaus SK,
|
||
Pontikos N,
|
||
Oluonye N,
|
||
de Carvalho ER,
|
||
Neveu MM,
|
||
Weleber RG,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2020 Apr;4(4):433-445.
|
||
Epub 2019 Nov 13
|
||
doi: 10.1016/j.oret.2019.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31926949" target="_blank">31926949</a><a href="/pmc/articles/PMC7479512" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7149616">The clinical course of mannosidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Autio S,
|
||
Louhimo T,
|
||
Helenius M</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Res</span>
|
||
1982 Apr;14(2):93-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7149616" target="_blank">7149616</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/939543">Aspartylglucosaminuria: unique biochemical and ultrastructural characteristics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Isenberg JN,
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Sharp HL</span><br />
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1976 Jul;7(4):469-81.
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<span class="bold">PMID: </span><a href="/pubmed/939543" target="_blank">939543</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vacuolated%20lymphocytes%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (15)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
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|
||
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|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Vacuolated%20lymphocytes" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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