[A familial brain malformation syndrome with symptomatic hypernatremia].
A familial cerebral malformation combined with chronic hypernatremia is reported. We found three children of a Moroccan family with microcephaly and hypoplasia of the frontal brain. The frontal parts of the lateral ventricles were absent. Two of the children had a defect of the midline structures with fusion of the lateral ventricles similar to holoprosencephaly. Further clinical symptoms were generalized spasticity, delay of mental development and hypodipsia.
D001921:Brain / Q000002:abnormalities*; D002648:Child; D004453:Echoencephalography; D005260:Female; D006801:Humans; D006955:Hypernatremia / Q000235:genetics*; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014057:Tomography, X-Ray Computed
Ein familiäres Hirnmissbildungssyndrom mit symptomatischer Hypernatriämie.