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Washington University Experience | METABOLIC | Alpha-Fucosidosis | 1A0 Case 1 - History
Case 1 History (AANP Diagnostic Slide Session 1996, Case 3) ---- This boy was delivered by caesarian section for breech presentation at term. Facial asymmetry, torticollis and bilateral congenital hip dislocation were seen soon after birth. Early development was normal but he presented at 21 months with developmental delay, hearing loss and spastic diplegia. Developmental assessment indicated an 8-9 months delay. Brainstem evoked potentials confirmed sensorineural hearing loss. By 2 years there was severe delay, by 3 he was definitely regressing and by 4 he was unable to crawl, with marked spasticity and bulbar palsy. Head circumference remained at the fiftieth percentile. Generalized seizures commenced at 5 years and he died of a chest infection at the age of 6. His younger brother presented with hearing loss at 7 months of age. At 4 years old he is now developmentally at a 3 year level and there is significant speech delay.
Autopsy results of this case showed the fixed brain was small (1050 grams). Coronal slices revealed dilated ventricles, very firm white centrum semi-ovale and cystic disintegrating subcortical U-fibers, thin callosum, soft and greyish-brown basal nuclei and variably thinned cortex.
