CHILDHOOD PROGRESSIVE SPINAL MUSCULAR-ATROPHY WITH FACIOSCAPULO-HUMERAL PREDOMINANCE, SENSORY AND AUTONOMIC INVOLVEMENT AND OPTIC ATROPHY

A female child of healthy parents developed rotary nystagmus at the ag e of 15 months. Ophthalmoscopy disclosed incomplete optic atrophy. Blo od tests, EEG and CT scans were normal. At 20 months progressive muscu lar weakness and wasting with limb-girdle distribution commenced, foll owed later by disturbance of gait. From muscle and nerve biopsy the di agnosis of a peripheral neuropathy with neurogenic muscular atrophy wa s made. No mental change occurred. At 23 months she sustained cardiac arrest and was resuscitated; thereafter, she remained in a vegetative state and expired 9 months later. Her brain was markedly atrophic and firm. Diffuse old ischemic necroses and neuronal loss with gliosis wer e found in the cortex, the neostriatum, the thalamus, parts of the low er brainstem, and the cerebellum. Her optic nerves and tracts showed c omplete atrophy. The spinal cord exhibited degeneration and loss of mo tor neurons with cervical accentuation. The intermediolateral nuclei, the dorsal nuclei and the spinal ganglia were also involved. There was demyelination of the posterior funiculi, the pyramidal tracts, and th e sciatic, peroneal, sural, and superior frontal nerve. The voluntary muscles exhibited large group atrophy with liposclerotic change and li mb-girdle predominance. The neck, tongue and ocular muscles were also involved, as were, to a less extent, the lower limbs. Although the los s of motor neurons in the spinal cord and at the bulbar level with the typical pattern of neurogenic muscular atrophy, as well as its distri bution, resemble the facioscapulohumeral type of hereditary motor neur opathy (HMN), early onset, rapid course, sensory and autonomic involve ment, and atrophy of the optic nerve do not fit this or any one type o f HMN.