Case Report of Congenital Muscular Dystrophy,Frontal Lissencephaly and Temporal Pachygyria

The etiology of isolated lissencephaly is related to genetic defects but a minority of cases is associated with a vascular or an infection insult. We report a case of a preterm infant, small for gestational age (birthweight < 3° centile) associated with microcephaly. The first examination at birth revealed joint deformities such as arthogryposis and neurological abnormalities. Parents were not consanguineous.

The brain ultrasound scan raised the possibility of the suspect of lissencephaly and the cerebral MR imaging showed a frontal temporal absence of gyration with a smooth and thin cortex, enlarged subarachnoid spaces and white matter hypomyelination. The muscle biopsy specimen was studied and immunohistochemical method demonstred an abnormal glycosylation of the protein α-dystroglican in some muscle fibers. The chromosomal analysis was normal and we also excluded the classical type I lissencephaly associated with the 17 chromosome.

The autopsy confirmed lissencephaly in the frontal and the parietal brain regions and pachygiria in the temporal ones. Moreover macroscopic examination demonstred the muscular atrophy and the severe arthrogryposis. So the patient had a first diagnosis of congenital muscular dystrophy and the brain has still been evaluating to search for the same histochemical pattern seen in the muscle.