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Late infantile CACH syndrome

MedGen UID:
1826172
Concept ID:
C5680648
Disease or Syndrome
Synonym: late infantile CACH syndrome
 
Monarch Initiative: MONDO:0015520
Orphanet: ORPHA157716

Professional guidelines

PubMed

Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, Rubin JP, Wenger DA, Burton BK, Escolar ML, Kurtzberg J
Mol Genet Metab 2021 Sep-Oct;134(1-2):53-59. Epub 2021 Apr 3 doi: 10.1016/j.ymgme.2021.03.016. PMID: 33832819
Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K
J Neurosci Res 2016 Nov;94(11):1118-25. doi: 10.1002/jnr.23891. PMID: 27638597
van Rappard DF, Boelens JJ, Wolf NI
Best Pract Res Clin Endocrinol Metab 2015 Mar;29(2):261-73. Epub 2014 Oct 16 doi: 10.1016/j.beem.2014.10.001. PMID: 25987178

Recent clinical studies

Etiology

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
Fumagalli F, Zambon AA, Rancoita PMV, Baldoli C, Canale S, Spiga I, Medaglini S, Penati R, Facchini M, Ciotti F, Sarzana M, Lorioli L, Cesani M, Natali Sora MG, Del Carro U, Cugnata F, Antonioli G, Recupero S, Calbi V, Di Serio C, Aiuti A, Biffi A, Sessa M
J Inherit Metab Dis 2021 Sep;44(5):1151-1164. Epub 2021 May 4 doi: 10.1002/jimd.12388. PMID: 33855715
Harrington M, Whalley D, Twiss J, Rushton R, Martin S, Huynh L, Yang H
Orphanet J Rare Dis 2019 Apr 29;14(1):89. doi: 10.1186/s13023-019-1060-2. PMID: 31036045Free PMC Article
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948
Tullu MS, Muranjan MN, Kondurkar PP, Bharucha BA
Indian Pediatr 2000 Sep;37(9):939-46. PMID: 10992329

Diagnosis

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
Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K
J Neurosci Res 2016 Nov;94(11):1118-25. doi: 10.1002/jnr.23891. PMID: 27638597
Rodriguez D
Handb Clin Neurol 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. PMID: 23622383
Gieselmann V, Krägeloh-Mann I
Neuropediatrics 2010 Feb;41(1):1-6. Epub 2010 Jun 22 doi: 10.1055/s-0030-1253412. PMID: 20571983
Tullu MS, Muranjan MN, Kondurkar PP, Bharucha BA
Indian Pediatr 2000 Sep;37(9):939-46. PMID: 10992329

Therapy

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
Elgün S, Waibel J, Kehrer C, van Rappard D, Böhringer J, Beck-Wödl S, Just J, Schöls L, Wolf N, Krägeloh-Mann I, Groeschel S
Orphanet J Rare Dis 2019 Jun 11;14(1):136. doi: 10.1186/s13023-019-1113-6. PMID: 31186049Free PMC Article
van Rappard DF, Königs M, Steenweg ME, Boelens JJ, Oosterlaan J, van der Knaap MS, Wolf NI, Pouwels PJW
J Neurol 2018 Mar;265(3):659-668. Epub 2018 Jan 30 doi: 10.1007/s00415-018-8765-3. PMID: 29383515Free PMC Article
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948
Martin HR, Poe MD, Provenzale JM, Kurtzberg J, Mendizabal A, Escolar ML
Biol Blood Marrow Transplant 2013 Apr;19(4):616-24. Epub 2013 Jan 22 doi: 10.1016/j.bbmt.2013.01.010. PMID: 23348427

Prognosis

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
Martin P, Hagberg GE, Schultz T, Harzer K, Klose U, Bender B, Nägele T, Scheffler K, Krägeloh-Mann I, Groeschel S
Clin Neuroradiol 2021 Dec;31(4):969-980. Epub 2020 Nov 23 doi: 10.1007/s00062-020-00975-2. PMID: 33226437Free PMC Article
Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K
J Neurosci Res 2016 Nov;94(11):1118-25. doi: 10.1002/jnr.23891. PMID: 27638597
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948
Rodriguez D
Handb Clin Neurol 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. PMID: 23622383

Clinical prediction guides

Amedick LB, Martin P, Beschle J, Strölin M, Wilke M, Wolf N, Pouwels P, Hagberg G, Klose U, Naegele T, Kraegeloh-Mann I, Groeschel S
Neuropediatrics 2023 Aug;54(4):244-252. Epub 2023 Apr 13 doi: 10.1055/a-2073-4178. PMID: 37054976Free PMC Article
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
Fumagalli F, Zambon AA, Rancoita PMV, Baldoli C, Canale S, Spiga I, Medaglini S, Penati R, Facchini M, Ciotti F, Sarzana M, Lorioli L, Cesani M, Natali Sora MG, Del Carro U, Cugnata F, Antonioli G, Recupero S, Calbi V, Di Serio C, Aiuti A, Biffi A, Sessa M
J Inherit Metab Dis 2021 Sep;44(5):1151-1164. Epub 2021 May 4 doi: 10.1002/jimd.12388. PMID: 33855715
Komatsuzaki S, Zielonka M, Mountford WK, Kölker S, Hoffmann GF, Garbade SF, Ries M
Genet Med 2019 Oct;21(10):2208-2215. Epub 2019 Mar 22 doi: 10.1038/s41436-019-0480-7. PMID: 30899093
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L
Science 2013 Aug 23;341(6148):1233158. Epub 2013 Jul 11 doi: 10.1126/science.1233158. PMID: 23845948

Recent systematic reviews

Chang SC, Eichinger CS, Field P
Eur J Med Res 2024 Mar 18;29(1):181. doi: 10.1186/s40001-024-01771-1. PMID: 38494502Free PMC Article
Chang SC, Bergamasco A, Bonnin M, Bisonó TA, Moride Y
Orphanet J Rare Dis 2024 Feb 21;19(1):80. doi: 10.1186/s13023-024-03044-w. PMID: 38383398Free PMC Article
Balbi P, Salvini S, Fundarò C, Frazzitta G, Maestri R, Mosah D, Uggetti C, Sechi G
J Neurol 2010 Dec;257(12):1955-62. Epub 2010 Aug 20 doi: 10.1007/s00415-010-5706-1. PMID: 20721574
Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS
J Child Neurol 2010 May;25(5):572-80. Epub 2009 Dec 28 doi: 10.1177/0883073809341669. PMID: 20038527Free PMC Article

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