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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Pelizaeus-Merzbacher Dz | 2A0 Case 2 History
Case 2 History (This is a case from the AANP Diagnostic Slide Session 1986, Case 3) ---- This 3 1/2 year old boy with severe psychomotor retardation, was born to non-consanguineous parents after a normal pregnancy and delivery. His birth weight was 4054 grams, length 53.5 cm, head circumference 37 cm and he appeared normal. At one month of age he developed "nodding movements" of the head. He exhibited head lag and the lower limbs were stiff with occasional scissoring. Two months later, he had roving eye movements, poor head control, cortical blindness, spasticity and hepatomegaly. Seizures developed shortly afterwards. The initial EEG was normal, as was the CT scan. Initially a poor feeder, his only weight gain was associated with a switch in formula (he was lactose intolerant). However, as time progressed his parameters (weight, length and head circumference) began to decline. Seizures proved impossible to control for any prolonged period of time. Later EEGs showed generalized abnormalities with or without evidence of seizure activity. An extensive investigation and numerous consultations (including other centers) failed to provide any diagnostic insights. Skin biopsy was not informative for a diagnosis. CSF protein, glucose, cells were normal. Measles and Toxoplasma antibodies were negative. Lactic acid blood levels and amino acid screens were normal (CSF was not done). Hexaminidase A, B glucosidase, B galactosidase, sphingomyelinase, oligosaccharides, and mucopolysaccharides were all normal. Liver biopsy demonstrated changes consistent with toxic injury. ---- At autopsy, the child weighed approximately 13 kg, had a body length of 97 cm and a head circumference of 49 cm. The brain weighed 1140 grams and had a normal gyral pattern.
