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Washington University Experience | NEURODEGENERATION | Infantile Neuroaxonal Dystrophy (INAD) | 1A0 Case 1 History
Case 1 History ---- The patient was first seen at 3 years of age for evaluation of delayed development from the outset with a progressive course. An eye movement problem (Duane's syndrome) was incompletely treated surgically. A neurologic exam found increased tone and bilateral extensor plantar responses. Her discharge diagnosis was congenital encephalopathy with psychomotor retardation. She began to lose previously attained skills (crawling, sitting alone, pulling to a stand, and peek-a-boo). A family history was positive for neurological disease (seizures, a “slow” uncle). ---- Neurological exam revealed pale discs and a question of macular degeneration, grossly full visual fields, coarse nystagmus on left lateral gaze and slight rotatory nystagmus. Motor exam revealed generalized increased tone and decreased power. She had bilateral Babinski signs, snout and root but no palmomental, grasp or tonic neck reflexes. Blood and urine amino acid analysis was normal. EEG was mildly abnormal with slight excessive delta waves, indeterminate. CT scan of the head was normal. EMG and nerve conduction studies demonstrated findings consistent with chronic neuropathic involvement. Skull films were normal. Lumbar puncture revealed clear acellular fluid with a protein of 10, glucose of 51 with normal protein electrophoretic pattern. An ophthalmology consult diagnosed bilateral optic atrophy with poor acuity and congenital nystagmus. The clinical impression was severe psychomotor retardation, a mixture of increased and decreased tone, hyperreflexia, bilateral Babinski signs, and a striking granulomaculopathy coupled with optic atrophy thought to represent infantile neuroaxonal dystrophy (INAD) (DDx: Leigh's disease, B-12 transport abnormalities, and ceroid lipofuscinosis). A sural nerve biopsy suggested INAD. She was followed at six month intervals and was noted to have progressive deterioration in her neurological function. When seen at 4 1/2 years of age she lay quiet, unresponsive and motionless on the examining table with lower extremities extended and upper extremities held abducted at the shoulders and flexed at the elbows. There was spasticity and even rigidity to passive movement in the upper extremities. The Babinski responses persisted. When seen in January 1977 at the age of 6 the patient was noted to have developed occasional episodes of opisthotonic and decerebrate posturing with occasional clonic movements of the upper extremities. Phenobarbital Rx was begun with the thought that her clonic movements represented seizure activity. At the age of 6 1/2 she was in a persistent vegetative state with bilateral quadriparesis, gaze-dependent jerk nystagmus with constant wandering of the eyes, optic atrophy and mild macular degenerative change, markedly blunted and delayed responses to painful stimuli, and general quietness. When seen again six months later, she had developed choking at feeding time and drooling. She had episodes of periodic breathing with brief spells of apnea. She died at 8 years of age. ---- At autopsy the brain weighed 1050g with prominent cerebellar atrophy. The histopathology is characterized by the presence of numerous spheroids (dystrophic axonal swellings) throughout the peripheral and central nervous systems.
