Article
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.
BMC neurology - 10 Jan 2022
Yamada Mamiko, Suzuki Hisato, Adachi Hiroyuki, Noguchi Atsuko, Miya Fuyuki, Takahashi Tsutomu, Kosaki Kenjiro
Abstract excerpt
BACKGROUND: Pontocerebellar hypoplasia (PCH) is increasingly known as a degenerative disease rather than simple "hypoplasia". At least 21 disease-causing genes have been identified for PCH so far. Because PCH is very heterogenous, prognostic prediction based solely on clinical or radiologic findings is not feasible. CASE PRESENTATION: Here, we report two siblings who had a fulminant neonatal course. The...
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