PONTO-CEREBELLAR HYPOPLASIA: CLINICAL STUDY OF 4 CASES

Objectives: Ponto-cerebellar hypoplasia (PCH) was a heterogeneous group of diseases. The most frequent group was secondary PCH. About a retrospective study the authors purpose to find out the characteristic of PCH in their region.

Methods: retrospective study of child with encephalopathy and PCH in the department of neurology. All patient had a clinical history and neurological and somatic examination. All of them had cerebral imaging. (CT scan or RMI).

Results: Fore cases with encephalopathy and PCH on the MRI were studied. 1st case: child with neonatal hypotonia, progressive microcephaly and deep mental retardation. There was no abnormal mouvements. There was a somatic ichtyosis. 2nd case: child with neonatal hypotonia, progressive microcephaly and deep mental retardation. There was no abnormal mouvements. MRI show partial hypoplasia of the corpus callosum. 3ed case: child with psychomotor retardation, mild mental retardation, abnormal eye mouvements. There is no microcephaly. 4ed case: child with psychomotor retardation, mild mental retardation, microcephaly and chore-athetosic mouvements.

Conclusion: PCH can be secondary to metabolic diseases particularly in the CDG syndrome (carbohydrate deficit glycosylation) and in malformative encephalopathy. The first case can be a metabolic disease because of the ichtyosis. The other observation can be classified as primitive PCH (type I, II or III), but the metabolic screening was necessary.