González de Dios J, García-Alix A, Cabañas F, Quero J, Moya M
Departamento de Pediatrá, Hospital Universitario San Juan, Alicante.
Rev Neurol. 1995 Sep-Oct;23(123):1041-6.
Cerebellum malformations are frequently diagnosed since the advent of the neuroradiological studies (computed tomography, magnetic resonance imaging and ultrasonography). Cerebellar hypoplasia is found in association with a wide variety of neurologic and systemic disorders. Clinical picture in newborn may be different than in other periods of life. Two characteristics are interesting in neonatal period: their relation with abnormal respiratory control and mental retardation. The pathophysiology of cerebellar hypoplasia is uncertain, however experimental studies suggest than an abnormality of the Bergman glia may lead to the observed granulle cell layer deficiency in this malformation. It is tempting to speculate that a similar migrational abnormality in the cerebrum accounts for the intellectual impairment seen in some affected patients. Respiration is a complex neural function requiring precise coordination of numerous neural circuits. Cerebellar hypoplasia may be important in the pathogenetic mechanism of abnormal respiratory control due to cerebellar respiratory control disturbance. Also diaphragmatic dysfunction may occur in association with cerebellar atrophy. We report two newborns with cerebellar hypoplasia (vermis and hemispheres) associated with central respiratory and neurological dysfunction, and mental retardation.
自神经放射学研究（计算机断层扫描、磁共振成像和超声检查）问世以来，小脑畸形的诊断屡见不鲜。小脑发育不全常与多种神经和全身疾病相关。新生儿期的临床表现可能与生命中的其他时期不同。新生儿期有两个特征值得关注：它们与呼吸控制异常和智力发育迟缓的关系。小脑发育不全的病理生理学尚不确定，然而实验研究表明，伯格曼神经胶质细胞的异常可能导致该畸形中观察到的颗粒细胞层缺陷。人们不禁推测，大脑中类似的迁移异常可解释一些受影响患者出现的智力障碍。呼吸是一种复杂的神经功能，需要众多神经回路的精确协调。由于小脑呼吸控制紊乱，小脑发育不全可能在异常呼吸控制的发病机制中起重要作用。此外，膈肌功能障碍可能与小脑萎缩相关。我们报告了两名患有小脑发育不全（蚓部和半球）并伴有中枢性呼吸和神经功能障碍以及智力发育迟缓的新生儿。
