PDF(Pubmed)
Abstract：
Pontocerebellar hypoplasia type 9 (PCH9) is a rare, autosomal, recessive, neurodevelopmental disorder caused by a mutation in the AMPD2 gene. Despite its rarity, it presents distinctive clinical and neuroradiological features. Diagnosing it is challenging yet crucial for appropriate management. We describe a 21-month-old boy with clinical and neuroradiological manifestations of the diagnosis, including characteristic signs such as an eight-configured midbrain and hypoplasia of the brainstem and cerebellar structures. Genetic evaluation confirmed homozygous missense mutations in the AMPD2 gene. This case highlights the pathognomonic neuroradiological features of pontocerebellar hypoplasia type 9 that point toward diagnosis.
摘要：
9型前脑小脑发育不全(PCH9)是一种罕见的，常染色体,隐性,由AMPD2基因突变引起的神经发育障碍。尽管它很罕见,它具有独特的临床和神经放射学特征。诊断它是具有挑战性的，但对于适当的管理至关重要。我们描述了一个21个月大的男孩的临床和神经放射学表现的诊断，包括特征性体征，例如八位中脑和脑干和小脑结构发育不全。遗传评估证实了AMPD2基因中的纯合错义突变。此病例突出了9型桥小脑发育不全的病理神经放射学特征，该特征指向诊断。
