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Congenital hydrocephalus

MedGen UID:
9336
•Concept ID:
C0020256
•
Congenital Abnormality
Synonyms: Congenital Hydrocephalus; Hydrocephalus, Congenital
SNOMED CT: Congenital hydrocephalus (47032000); Hydrocephalus in newborn (47032000); Congenital hydrocephaly (47032000); Primary hydrocephaly (47032000); Primary hydrocephalus (47032000); Congenital hydrencephalus (47032000); Congenital hydrencephaly (47032000); Congenital dilatation of cerebral ventricles (47032000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Related genes: CCDC88C, WDR81, MPDZ
 
Monarch Initiative: MONDO:0016349
OMIM® Phenotypic series: PS236600
Orphanet: ORPHA2185

Definition

A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly. [from ORDO]

Professional guidelines

PubMed

Birth defects after incestuous mating: calculating the probability of causality and reflecting on the desirability of genetic testing.
Ten Kate LP, Rath M, Felbor U, Frints SM
Eur J Med Genet 2013 May;56(5):243-4. Epub 2013 Mar 5 doi: 10.1016/j.ejmg.2013.02.007. PMID: 23470695
Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.
Schrander-Stumpel C, Fryns JP
Eur J Pediatr 1998 May;157(5):355-62. doi: 10.1007/s004310050830. PMID: 9625330
Medical and surgical aspects in the treatment of congenital hydrocephalus.
Lorber J
Neuropadiatrie 1971 Feb;2(3):239-46. doi: 10.1055/s-0028-1091785. PMID: 4941783

Recent clinical studies

Etiology

Congenital hydrocephalus diagnosed in a nonagenarian: Case report.
Martinez F, Rotter J, Graffeo C, Lanzino G
Neuroradiol J 2023 Dec;36(6):752-754. Epub 2023 Feb 17 doi: 10.1177/19714009221150850. PMID: 36803070Free PMC Article
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Duy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T Jr, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT
Nat Neurosci 2022 Apr;25(4):458-473. Epub 2022 Apr 4 doi: 10.1038/s41593-022-01043-3. PMID: 35379995Free PMC Article
Congenital hydrocephalus associated with myeloschisis.
Jeelani Y, McComb JG
Childs Nerv Syst 2011 Oct;27(10):1585-8. Epub 2011 Sep 17 doi: 10.1007/s00381-011-1560-4. PMID: 21928024
Regulatory factor X4 variant 3: a transcription factor involved in brain development and disease.
Zhang D, Zeldin DC, Blackshear PJ
J Neurosci Res 2007 Dec;85(16):3515-22. doi: 10.1002/jnr.21356. PMID: 17510980Free PMC Article
Management of apparently isolated fetal ventriculomegaly.
Gupta JK, Bryce FC, Lilford RJ
Obstet Gynecol Surv 1994 Oct;49(10):716-21. doi: 10.1097/00006254-199410000-00027. PMID: 7816396

Diagnosis

Paediatric hydrocephalus.
Kahle KT, Klinge PM, Koschnitzky JE, Kulkarni AV, MacAulay N, Robinson S, Schiff SJ, Strahle JM
Nat Rev Dis Primers 2024 May 16;10(1):35. doi: 10.1038/s41572-024-00519-9. PMID: 38755194
Fetal Ventriculomegaly and Hydrocephalus - What Shouldn't be Missed on Imaging?
Sira LB, Kozyrev DA, Bashat DB, Constantini S, Roth J, Shiran SI
Neurol India 2021 Nov-Dec;69(Supplement):S298-S304. doi: 10.4103/0028-3886.332286. PMID: 35102980
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L
Childs Nerv Syst 2020 Aug;36(8):1645-1660. Epub 2020 Jan 31 doi: 10.1007/s00381-020-04526-5. PMID: 32006096
Hydrocephalus in children.
Kahle KT, Kulkarni AV, Limbrick DD Jr, Warf BC
Lancet 2016 Feb 20;387(10020):788-99. Epub 2015 Aug 6 doi: 10.1016/S0140-6736(15)60694-8. PMID: 26256071
Congenital hydrocephalus.
Partington MD
Neurosurg Clin N Am 2001 Oct;12(4):737-42, ix. PMID: 11524294

Therapy

Effect of tolvaptan on hyponatremia in a dog with syndrome of inappropriate secretion of antidiuretic hormone.
Yamamoto H, Kimura K, Horikirizono H, Tamura Y, Kambayashi S, Baba K, Okuda M, Mizuno T, Igase M
J Vet Med Sci 2023 Oct 17;85(10):1047-1051. Epub 2023 Aug 16 doi: 10.1292/jvms.23-0243. PMID: 37587049Free PMC Article
Detection of Malpositioned VP Shunt Catheter by Radionuclide CSF Cisternography.
Jo N, Edhayan G, Owji S, Villanueva-Meyer J, Bhargava P
Clin Nucl Med 2023 Mar 1;48(3):e110-e111. Epub 2023 Jan 10 doi: 10.1097/RLU.0000000000004525. PMID: 36723893
Pulmonary arterial hypertension due to ventriculoatrial shunts: A case report and literature review.
Otero-Fernández P, Negreira-Caamaño M, Moreno-Flores A, Calvo-Alonso M, Sosa-Cabezas JP, Mateos-Romero A, Villena-Martín M
Neurochirurgie 2022 Dec;68(6):684-687. Epub 2022 Apr 21 doi: 10.1016/j.neuchi.2022.03.002. PMID: 35461815
Over-shunting associated myelopathy.
Howard BM, Sribnick EA, Dhall SS
J Clin Neurosci 2014 Dec;21(12):2242-4. Epub 2014 Jul 25 doi: 10.1016/j.jocn.2014.05.014. PMID: 25070631
Congenital hydrocephalus.
Mitra DK, Srinivas M
Indian J Pediatr 1997 Nov-Dec;64(6 Suppl):15-21. PMID: 11129876

Prognosis

Paediatric hydrocephalus.
Kahle KT, Klinge PM, Koschnitzky JE, Kulkarni AV, MacAulay N, Robinson S, Schiff SJ, Strahle JM
Nat Rev Dis Primers 2024 May 16;10(1):35. doi: 10.1038/s41572-024-00519-9. PMID: 38755194
Fetal Ventriculomegaly and Hydrocephalus - What Shouldn't be Missed on Imaging?
Sira LB, Kozyrev DA, Bashat DB, Constantini S, Roth J, Shiran SI
Neurol India 2021 Nov-Dec;69(Supplement):S298-S304. doi: 10.4103/0028-3886.332286. PMID: 35102980
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray A, Juarez-Peñalva S, Petracchi F, Igarzabal L
Childs Nerv Syst 2020 Aug;36(8):1645-1660. Epub 2020 Jan 31 doi: 10.1007/s00381-020-04526-5. PMID: 32006096
A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.
Alazami AM, Maddirevula S, Seidahmed MZ, Albhlal LA, Alkuraya FS
Hum Genet 2019 Jan;138(1):105-107. Epub 2018 Nov 27 doi: 10.1007/s00439-018-1963-3. PMID: 30483960
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R
Hum Mutat 2016 Aug;37(8):727-31. Epub 2016 May 9 doi: 10.1002/humu.22998. PMID: 27060491Free PMC Article

Clinical prediction guides

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.
Liu XY, Song X, Czosnyka M, Robba C, Czosnyka Z, Summers JL, Yu HJ, Gao GY, Smielewski P, Guo F, Pang MJ, Ming D
Mil Med Res 2024 Aug 12;11(1):54. doi: 10.1186/s40779-024-00560-5. PMID: 39135208Free PMC Article
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Almannai M, AlAbdi L, Maddirevula S, Alotaibi M, Alsaleem BM, Aljadhai YI, Alsaif HS, Abukhalid M, Alkuraya FS
Hum Genet 2023 Mar;142(3):399-405. Epub 2022 Dec 23 doi: 10.1007/s00439-022-02513-1. PMID: 36564622
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.
Reish O, Aspit L, Zouella A, Roth Y, Polak-Charcon S, Baboushkin T, Benyamini L, Scheetz TE, Mussaffi H, Sheffield VC, Parvari R
Hum Mutat 2016 Aug;37(8):727-31. Epub 2016 May 9 doi: 10.1002/humu.22998. PMID: 27060491Free PMC Article
Fetal germinal matrix and intraventricular haemorrhage diagnosed by MRI.
Fukui K, Morioka T, Nishio S, Mihara F, Nakayama H, Tsukimori K, Fukui M
Neuroradiology 2001 Jan;43(1):68-72. doi: 10.1007/s002340000488. PMID: 11214652

Recent systematic reviews

Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Greenberg ABW, Mehta NH, Allington G, Jin SC, Moreno-De-Luca A, Kahle KT
JAMA Netw Open 2023 Nov 1;6(11):e2343384. doi: 10.1001/jamanetworkopen.2023.43384. PMID: 37991765Free PMC Article
An eye on the future for defeating hydrocephalus, ciliary dyskinesia-related hydrocephalus: review article.
Hasanain AA, Soliman MAR, Elwy R, Ezzat AAM, Abdel-Bari SH, Marx S, Jenkins A, El Refaee E, Zohdi A
Br J Neurosurg 2022 Jun;36(3):329-339. Epub 2022 May 17 doi: 10.1080/02688697.2022.2074373. PMID: 35579079
Inflammatory Markers in Cerebrospinal Fluid from Patients with Hydrocephalus: A Systematic Literature Review.
Lolansen SD, Rostgaard N, Oernbo EK, Juhler M, Simonsen AH, MacAulay N
Dis Markers 2021;2021:8834822. Epub 2021 Feb 2 doi: 10.1155/2021/8834822. PMID: 33613789Free PMC Article
A systematic review of the risks factors associated with the onset and natural progression of hydrocephalus.
Walsh S, Donnan J, Morrissey A, Sikora L, Bowen S, Collins K, MacDonald D
Neurotoxicology 2017 Jul;61:33-45. Epub 2016 Mar 18 doi: 10.1016/j.neuro.2016.03.012. PMID: 27000516
Maternal environmental risk factors for congenital hydrocephalus: a systematic review.
Kalyvas AV, Kalamatianos T, Pantazi M, Lianos GD, Stranjalis G, Alexiou GA
Neurosurg Focus 2016 Nov;41(5):E3. doi: 10.3171/2016.8.FOCUS16280. PMID: 27798989

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