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Congenital or early infantile CACH syndrome

MedGen UID:
1842419
•Concept ID:
C5680650
•
Disease or Syndrome
Synonym: congenital or early infantile CACH syndrome
 
Monarch Initiative: MONDO:0015519
Orphanet: ORPHA157713

Professional guidelines

PubMed

Congenital Cytomegalovirus: A European Expert Consensus Statement on Diagnosis and Management.
Luck SE, Wieringa JW, Blázquez-Gamero D, Henneke P, Schuster K, Butler K, Capretti MG, Cilleruelo MJ, Curtis N, Garofoli F, Heath P, Iosifidis E, Klein N, Lombardi G, Lyall H, Nieminen T, Pajkrt D, Papaevangelou V, Posfay-Barbe K, Puhakka L, Roilides E, Rojo P, Saavedra-Lozano J, Shah T, Sharland M, Saxen H, Vossen ACTM; ESPID Congenital CMV Group Meeting, Leipzig 2015
Pediatr Infect Dis J 2017 Dec;36(12):1205-1213. doi: 10.1097/INF.0000000000001763. PMID: 29140947
Neonatal hyponatremia: differential diagnosis and treatment.
Marcialis MA, Dessi A, Pintus MC, Irmesi R, Fanos V
J Matern Fetal Neonatal Med 2011 Oct;24 Suppl 1:75-9. doi: 10.3109/14767058.2011.607667. PMID: 21942597
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Recent clinical studies

Etiology

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A
Cytotherapy 2024 Jul;26(7):739-748. Epub 2024 Apr 1 doi: 10.1016/j.jcyt.2024.03.487. PMID: 38613540Free PMC Article
Congenitally corrected transposition: not correct at all.
DeWeert KJ, Lancaster T, Dorfman AL
Curr Opin Cardiol 2023 Jul 1;38(4):358-363. Epub 2023 Mar 28 doi: 10.1097/HCO.0000000000001052. PMID: 37016955
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Stress imaging in congenital cardiac disease.
Robbers-Visser D, Luijnenburg SE, van den Berg J, Moelker A, Helbing WA
Cardiol Young 2009 Dec;19(6):552-62. Epub 2009 Oct 23 doi: 10.1017/S1047951109991818. PMID: 19849877
Cytomegalovirus infection.
Brown HL, Abernathy MP
Semin Perinatol 1998 Aug;22(4):260-6. doi: 10.1016/s0146-0005(98)80014-1. PMID: 9738990

Diagnosis

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Adang LA, Bonkowsky JL, Boelens JJ, Mallack E, Ahrens-Nicklas R, Bernat JA, Bley A, Burton B, Darling A, Eichler F, Eklund E, Emrick L, Escolar M, Fatemi A, Fraser JL, Gaviglio A, Keller S, Patterson MC, Orchard P, Orthmann-Murphy J, Santoro JD, Schöls L, Sevin C, Srivastava IN, Rajan D, Rubin JP, Van Haren K, Wasserstein M, Zerem A, Fumagalli F, Laugwitz L, Vanderver A
Cytotherapy 2024 Jul;26(7):739-748. Epub 2024 Apr 1 doi: 10.1016/j.jcyt.2024.03.487. PMID: 38613540Free PMC Article
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Stress imaging in congenital cardiac disease.
Robbers-Visser D, Luijnenburg SE, van den Berg J, Moelker A, Helbing WA
Cardiol Young 2009 Dec;19(6):552-62. Epub 2009 Oct 23 doi: 10.1017/S1047951109991818. PMID: 19849877
Rubella.
Banatvala JE, Brown DW
Lancet 2004 Apr 3;363(9415):1127-37. doi: 10.1016/S0140-6736(04)15897-2. PMID: 15064032
Congenital afibrinogenemia.
al-Mondhiry H, Ehmann WC
Am J Hematol 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. PMID: 8037188

Therapy

Red Blood Cell Transfusion: 2023 AABB International Guidelines.
Carson JL, Stanworth SJ, Guyatt G, Valentine S, Dennis J, Bakhtary S, Cohn CS, Dubon A, Grossman BJ, Gupta GK, Hess AS, Jacobson JL, Kaplan LJ, Lin Y, Metcalf RA, Murphy CH, Pavenski K, Prochaska MT, Raval JS, Salazar E, Saifee NH, Tobian AAR, So-Osman C, Waters J, Wood EM, Zantek ND, Pagano MB
JAMA 2023 Nov 21;330(19):1892-1902. doi: 10.1001/jama.2023.12914. PMID: 37824153
Efficacy of nirsevimab against respiratory syncytial virus lower respiratory tract infections in preterm and term infants, and pharmacokinetic extrapolation to infants with congenital heart disease and chronic lung disease: a pooled analysis of randomised controlled trials.
Simões EAF, Madhi SA, Muller WJ, Atanasova V, Bosheva M, Cabañas F, Baca Cots M, Domachowske JB, Garcia-Garcia ML, Grantina I, Nguyen KA, Zar HJ, Berglind A, Cummings C, Griffin MP, Takas T, Yuan Y, Wählby Hamrén U, Leach A, Villafana T
Lancet Child Adolesc Health 2023 Mar;7(3):180-189. Epub 2023 Jan 9 doi: 10.1016/S2352-4642(22)00321-2. PMID: 36634694Free PMC Article
Prenatal management of congenital diaphragmatic hernia.
Danzer E, Rintoul NE, van Meurs KP, Deprest J
Semin Fetal Neonatal Med 2022 Dec;27(6):101406. Epub 2022 Nov 17 doi: 10.1016/j.siny.2022.101406. PMID: 36456433
Are Some Randomized Clinical Trials Impossible?
Rios JJ, Richards BS, Stevenson DA, Oberlander B, Viskochil D, Gross AM, Dombi E, Widemann BC, Plotkin SR, May CJ, Ullrich NJ, Goldstein RY, Jain V, Schorry EK; NFCTC Consortium
J Pediatr Orthop 2021 Jan;41(1):e90-e93. doi: 10.1097/BPO.0000000000001650. PMID: 32852366
Interventions for congenital talipes equinovarus (clubfoot).
Bina S, Pacey V, Barnes EH, Burns J, Gray K
Cochrane Database Syst Rev 2020 May 15;5(5):CD008602. doi: 10.1002/14651858.CD008602.pub4. PMID: 32412098Free PMC Article

Prognosis

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Spontaneous Coronary Artery Dissection: Clinical Outcomes and Risk of Recurrence.
Saw J, Humphries K, Aymong E, Sedlak T, Prakash R, Starovoytov A, Mancini GBJ
J Am Coll Cardiol 2017 Aug 29;70(9):1148-1158. doi: 10.1016/j.jacc.2017.06.053. PMID: 28838364
Transient tachypnea of the newborn.
Guglani L, Lakshminrusimha S, Ryan RM
Pediatr Rev 2008 Nov;29(11):e59-65. doi: 10.1542/pir.29-11-e59. PMID: 18977854
Congenital and neonatal pneumonia.
Nissen MD
Paediatr Respir Rev 2007 Sep;8(3):195-203. Epub 2007 Sep 6 doi: 10.1016/j.prrv.2007.07.001. PMID: 17868917
Hematopoietic stem cell transplantation for mucopolysaccharidoses and leukodystrophies.
Sauer M, Grewal S, Peters C
Klin Padiatr 2004 May-Jun;216(3):163-8. doi: 10.1055/s-2004-822629. PMID: 15175961

Clinical prediction guides

Paediatric hip ultrasound.
Donnan M, Anderson N, Hoq M, Donnan L
Bone Joint J 2023 Oct 1;105-B(10):1123-1130. doi: 10.1302/0301-620X.105B10.BJJ-2023-0143.R1. PMID: 37777201
Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access.
Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A
Lancet 2022 Jan 22;399(10322):372-383. doi: 10.1016/S0140-6736(21)02017-1. PMID: 35065785Free PMC Article
Congenital Portosystemic Shunts: Clinical Presentations, Imaging, Case Selection, and Feasibility of Transcatheter Closure.
Karmegaraj B, Kappanayil M, Rajeshkannan R, Koneti NR, Kumar RK
JACC Cardiovasc Imaging 2021 Dec;14(12):2470-2476. Epub 2020 Nov 25 doi: 10.1016/j.jcmg.2020.09.028. PMID: 33248961
Ultrasonography in the Diagnosis and Management of Developmental Dysplasia of the Hip.
Edmonds EW, Hughes JL, Bomar JD, Brooks JT, Upasani VV
JBJS Rev 2019 Dec;7(12):e5. doi: 10.2106/JBJS.RVW.19.00063. PMID: 31880623
Autism and congenital blindness.
Hobson RP, Lee A, Brown R
J Autism Dev Disord 1999 Feb;29(1):45-56. doi: 10.1023/a:1025918616111. PMID: 10097994

Recent systematic reviews

Congenital Zika syndrome: A systematic review.
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Aortic Valve Interventions in Pediatric Patients.
Bouhout I, Ba PS, El-Hamamsy I, Poirier N
Semin Thorac Cardiovasc Surg 2019 Summer;31(2):277-287. Epub 2018 Nov 2 doi: 10.1053/j.semtcvs.2018.10.009. PMID: 30391499
Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis.
van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW
J Am Coll Cardiol 2011 Nov 15;58(21):2241-7. doi: 10.1016/j.jacc.2011.08.025. PMID: 22078432
Neonatal pulmonary hypertension.
Steinhorn RH
Pediatr Crit Care Med 2010 Mar;11(2 Suppl):S79-84. doi: 10.1097/PCC.0b013e3181c76cdc. PMID: 20216169Free PMC Article

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