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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Metachromatic Leukodystrophy | 1A0 Case 1 History
Case 1 History ---- This 14 year old male was the 7 lb. 12 oz. product of a full-term normal pregnancy. Birth was uncomplicated and the first few years of development were unremarkable. At the age of 2, the parents noticed that he was walking pigeon-toed and, in general, was somewhat less coordinated than his peers. At age 3, the parents noted that his gait was abnormally slow and shuffling. In grade school a teacher drew attention to his pronounced motor difficulties, i.e., he could not sit cross-legged in kindergarten, could not use scissors, write or color. He had a labile disposition. The Metropolitan Readiness Test scored him at the 36th percentile, which was significantly below most of his classmates. There was no history of consanguinity and family history was negative; two older sisters were healthy. Neurological examination revealed definite mental slowness and poor recent memory. There was mild weakness in the lower extremities, especially of the dorsiflexors of the feet. All DTR's were hyperactive and symmetrical, with bilateral ankle clonus and extensor plantar reflexes. Coordination and rapid alternating movements were poor, especially in the right upper extremity. There was mild ataxia on finger-to-nose testing. The gait was ataxic, slow and shuffling. An LP was normal, except for a CSF protein of 71.0 mg%. Two EEG's showed a moderate non-localizing slow dysrhythmia. Skull x-ray was normal. An EMG showed some fibrillations and reduced units in the hypothenar eminence and anterior tibialis. Nerve conduction velocities were slowed. Arylsulfatase A activity was absent from 3AM urine samples. He became incontinent of urine and spasticity increased to the point where he was confined to a wheelchair. Pallor of the optic discs was noted. His DTR's were absent in the lower extremities, but remained hyperactive in the upper extremities. He developed contractures of both feet in plantar reflexion, blindness, marked optic atrophy, occasional massive flexion spasms of the whole body, especially when asleep, and he required nasogastric intubation for feeding. Over the next 2 years he developed difficulty with head control and sitting, scoliosis and nystagmus, with total inability to speak. He progressed to a bed-ridden vegetative existence, finally succumbing to inanition and infection at age 14.
