de Koning T J, de Vries L S, Groenendaal F, Ruitenbeek W, Jansen G H, Poll-The B T, Barth P G
Department of Metabolic Diseases, University Children's Hospital, Utrecht, The Netherlands.
Neuropediatrics. 1999 Apr;30(2):93-5. doi: 10.1055/s-2007-973467.
Pontocerebellar hypoplasias are congenital disorders of brain morphogenesis which include such diverse etiologies as carbohydrate-deficient glycoprotein syndrome type 1, cerebromuscular dystrophies (Walker-Warburg syndrome, Fukuyama syndrome, muscle-eye-brain disease) and at least two types of autosomal recessive neurodegenerations known as pontocerebellar hypoplasia type I and II. Pontocerebellar hypoplasia type 1 is a lethal phenotype and clinical features include congenital contractures, respiratory insufficiency, central and peripheral motor dysfunction and spinal anterior horn degeneration. Type 2 is characterized by progressive microcephaly, extrapyramidal dyskinesia and normal spinal cord findings. In this paper, we describe a girl, born at 33 weeks of gestation, presenting with respiratory insufficiency and multiple contractures. MRI scan of the brain demonstrated pontocerebellar hypoplasia and cortical and diffuse periventricular white matter abnormalities. Postmortem examination showed pontocerebellar hypoplasia with extensive gliosis of the periventricular white matter and of the basal ganglia with normal spinal cord findings. Histology of skeletal muscle was normal. Biochemical analysis demonstrated multiple deficiencies of respiratory chain enzymes in skin fibroblasts. This case demonstrates a lethal phenotype of pontocerebellar hypoplasia without spinal cord abnormalities associated with a respiratory-chain disorder. The diagnostic workup in a patient whose brain image shows pontocerebellar hypoplasia should include a search for respiratory-chain impairment.
脑桥小脑发育不全是脑形态发生的先天性疾病，其病因多种多样，包括1型糖蛋白缺乏综合征、脑肌营养不良（沃克-沃尔堡综合征、福山综合征、肌肉-眼-脑疾病）以及至少两种常染色体隐性神经退行性疾病，即脑桥小脑发育不全I型和II型。脑桥小脑发育不全I型是一种致死性表型，临床特征包括先天性挛缩、呼吸功能不全、中枢和外周运动功能障碍以及脊髓前角变性。II型的特征是进行性小头畸形、锥体外系运动障碍以及脊髓检查结果正常。在本文中，我们描述了一名孕33周出生的女孩，她出现呼吸功能不全和多处挛缩。脑部MRI扫描显示脑桥小脑发育不全以及皮质和脑室周围弥漫性白质异常。尸检显示脑桥小脑发育不全，脑室周围白质和基底神经节广泛胶质增生，脊髓检查结果正常。骨骼肌组织学正常。生化分析表明皮肤成纤维细胞中呼吸链酶存在多种缺陷。该病例显示了一种脑桥小脑发育不全的致死性表型，无脊髓异常，与呼吸链疾病相关。对于脑部影像显示脑桥小脑发育不全的患者，诊断检查应包括寻找呼吸链损伤。
