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Washington University Experience | NEURODEGENERATION | Infantile Neuroaxonal Dystrophy (INAD) | 2A0 Case 2 History
Case 2 History ---- The patient was the full term 8 lb. 3 oz product of an uncomplicated pregnancy, labor and delivery born to a 29 year old G5P2Ab1 woman. This 10 year old male has been followed at SLCH since early childhood for a chronic progressive neurologic disease of unknown etiology. His neonatal period and infancy were within normal limits. His developmental milestones were appropriate; however, at 11-12 months of age he was noted to be hypotonic with hypermobile joints, left esotropia and had difficulty bearing weight on his legs. At 19 months of age he was admitted for evaluation of psychomotor retardation, his parents having noted no progression in motor milestones since 11 months of age. Physical examination at 19 months showed him to be irritable and floppy with normal head circumference and normal funduscopic exam. No dysmorphic features or organomegaly were found. X-ray studies showed delayed bone maturation and an EMG showed fibrillation and scarcity of motor units. His pupils were equal, round and reactive to light. Extraocular movements were abnormal due to a left 6th nerve palsy. Facies were symmetric. His hearing appeared to be intact. A gag reflex was present and his tongue was midline. Motor exam showed generalized hypotonia with decreased muscle bulk and strength. Sensation was reportedly intact to pinprick. Muscle stretch reflexes were 2 to 3+ and symmetric. Response to plantar stimulation was extensor bilaterally. Laboratory evaluation included a normal CBC, normal serum electrolytes, fasting glucose, BUN, T4, calcium and phosphorus. Alkaline phosphatase, CPK, and cholesterol were normal. Urine and blood amino acids were normal. Lumbar puncture yielded clear, colorless fluid with a protein of 16 mg%, 11 cells (all monocytes) and a glucose of 47 (simultaneous blood glucose of 72). Skull x-rays showed slight dolichocephaly but were otherwise normal as were chest and spine x-rays. EKG was normal. EEG was read as normal. EMG showed fibrillations and scarcity of motor units, decreased response voltages, but normal nerve conduction velocities. His most recent admission was in January of 1973 (at an age of 3) for weight loss and deterioration in his neurological status. At that time he spoke no words and he could no longer crawl or sit upright. Examination showed a left esotropia, saccadic eye movements and dilated pupils, reacting only slightly to light. The ocular discs were waxy and pale. His muscle mass was decreased and he had hypotonia. An EMG was interpreted as consistent with central anterior horn disease. A sural nerve biopsy was performed including electron microscopic examination which was normal. Brain biopsy was briefly considered. The parents, however, indicated that no future children were planned and none of their present children were close to childbearing age. He was discharged with no clear diagnosis although a diagnosis of possible sudanophilic leukodystrophy was considered. The family history includes a male sibling who had also suffered delayed motor development, strabismus, and blindness by age 5 and died at 9 years of age. There is apparently a younger brother at home who also manifests this ill-defined degenerative disorder. Of interest is a history of a maternal cousin with "cerebral palsy" who died at the age of 3 years and a second maternal cousin who was retarded from birth and survived into adulthood. The child was lost to follow-up but was apparently well cared for at home and died in December of 1981 and was examined by autopsy at an age of 11 years.
