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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Krabbe Dz | 1A0 Case 1 History
Case 1 History ---- This is a 9 year old male who died at an outside hospital after an admission for pneumonia. The patient had a long-standing degenerative neurologic disorder of unknown etiology. His baseline activity included smiling and crying appropriately with some awareness of his surroundings. The patient would also follow objects with his eyes. He otherwise required total care including feeding and bathing. In 11/88 the patient was admitted for new onset left sided focal motor clonic seizures. He was treated with Dilantin with apparently good control. EEG performed at that time was markedly abnormal because of diffuse slowing which was not altered by any type of arousal stimuli, thought consistent with a severe organic or metabolic encephalopathy. Head CT without contrast at that time revealed bilaterally symmetric increased lucency of white matter with significant enlargement of all ventricles and definite evidence of atrophy involving the cerebellum, midbrain and pons. In 8/89 the patient apparently had a second prolonged (16 hours) focal seizure controlled eventually with IV phenobarbital. Since that episode the patient was much less alert and responsive. His swallowing was impaired without apparent aspiration. Height and weight were less than the 5th percentile for his age group. He had flexion contractions of all extremities and had little to no response to any type of stimulation and made no spontaneous movements. He had full range of motion on oculocephalic maneuver but did not follow objects or light. (On previous exam 5 months prior the patient had full and conjugate, extraocular movements spontaneously.) His pupils reacted normally to light and his fundi were benign. He responded with sucking to examination of his throat and had a decreased gag reflex. The remainder of his cranial nerves seemed normal. The patient’s motor exam revealed quadriparesis with mildly increased tone throughout. Deep tendon reflexes were mildly increased. Plantar responses were extensor bilaterally which was different from the previous exam 5 months earlier when they were flexor bilaterally. The patient developed respiratory complications and died at the age of 9 years.
