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Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome

MedGen UID:
678170
Concept ID:
C0796122
Disease or Syndrome
SNOMED CT: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome (442511009)
 

Definition

Cerebellar and ocular atrophic disease with delayed or absent psychomotor development, hypotonia, convulsions, hyperreflexia, transient or persistent edema, and dysmorphic facies. [from MCA/MR]

Recent clinical studies

Etiology

Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K
Brain Dev 2008 May;30(5):349-55. Epub 2007 Dec 11 doi: 10.1016/j.braindev.2007.10.006. PMID: 18065176
Huisman TA, Klein A, Werner B, Straube T, Boltshauser E
AJNR Am J Neuroradiol 2006 Aug;27(7):1555-8. PMID: 16908579
D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C
J Child Neurol 2005 May;20(5):454-6. doi: 10.1177/08830738050200051801. PMID: 15968934
Shevell MI, Colangelo P, Treacy E, Polomeno RC, Rosenblatt B
Pediatr Neurol 1996 Nov;15(4):337-9. PMID: 8972535
Somer M, Salonen O, Pihko H, Norio R
AJNR Am J Neuroradiol 1993 Jul-Aug;14(4):861-7. PMID: 8352158

Diagnosis

Hady-Cohen R, Ben-Pazi H, Adir V, Yosovich K, Blumkin L, Lerman-Sagie T, Lev D
Eur J Paediatr Neurol 2018 Nov;22(6):1133-1138. Epub 2018 Jul 26 doi: 10.1016/j.ejpn.2018.07.003. PMID: 30100179
Gawlinski P, Posmyk R, Gambin T, Sielicka D, Chorazy M, Nowakowska B, Jhangiani SN, Muzny DM, Bekiesinska-Figatowska M, Bal J, Boerwinkle E, Gibbs RA, Lupski JR, Wiszniewski W
Pediatr Neurol 2016 Jul;60:83-7. Epub 2016 Apr 9 doi: 10.1016/j.pediatrneurol.2016.03.011. PMID: 27343026Free PMC Article
Huisman TA, Klein A, Werner B, Straube T, Boltshauser E
AJNR Am J Neuroradiol 2006 Aug;27(7):1555-8. PMID: 16908579
Klein A, Schmitt B, Boltshauser E
Eur J Paediatr Neurol 2004;8(6):317-21. doi: 10.1016/j.ejpn.2004.08.006. PMID: 15542387
Vanhatalo S, Somer M, Barth PG
Neuropediatrics 2002 Apr;33(2):100-4. doi: 10.1055/s-2002-32371. PMID: 12075493

Therapy

Caraballo RH, Pozo AN, Gomez M, Semprino M
Pediatr Neurol 2011 Apr;44(4):259-64. doi: 10.1016/j.pediatrneurol.2010.11.007. PMID: 21397166

Prognosis

Huisman TA, Klein A, Werner B, Straube T, Boltshauser E
AJNR Am J Neuroradiol 2006 Aug;27(7):1555-8. PMID: 16908579
D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C
J Child Neurol 2005 May;20(5):454-6. doi: 10.1177/08830738050200051801. PMID: 15968934
Klein A, Schmitt B, Boltshauser E
Eur J Paediatr Neurol 2004;8(6):317-21. doi: 10.1016/j.ejpn.2004.08.006. PMID: 15542387
Shevell MI, Colangelo P, Treacy E, Polomeno RC, Rosenblatt B
Pediatr Neurol 1996 Nov;15(4):337-9. PMID: 8972535

Clinical prediction guides

Caraballo RH, Pozo AN, Gomez M, Semprino M
Pediatr Neurol 2011 Apr;44(4):259-64. doi: 10.1016/j.pediatrneurol.2010.11.007. PMID: 21397166
Tohyama J, Akasaka N, Osaka H, Maegaki Y, Kato M, Saito N, Yamashita S, Ohno K
Brain Dev 2008 May;30(5):349-55. Epub 2007 Dec 11 doi: 10.1016/j.braindev.2007.10.006. PMID: 18065176
Fujimoto S, Yokochi K, Nakano M, Wada Y
Neuropediatrics 1995 Oct;26(5):270-2. doi: 10.1055/s-2007-979771. PMID: 8552220
Haltia M, Somer M
Acta Neuropathol 1993;85(3):241-7. PMID: 8460530

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