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 age of 15 months. Ophthalmoscopy disclosed incomplete optic atrophy. Blood tests, EEG and CT scans were normal. At 20 months progressive muscular weakness and wasting with limb-girdle distribution commenced, followed later by disturbance of gait. From muscle and nerve biopsy the diagnosis of a peripheral neuropathy with neurogenic muscular atrophy was 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 were found in the cortex, the neostriatum, the thalamus, parts of the lower brainstem, and the cerebellum. Her optic nerves and tracts showed complete atrophy. The spinal cord exhibited degeneration and loss of motor 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 the sciatic, peroneal, sural, and superior frontal nerve. The voluntary muscles exhibited large group atrophy with liposclerotic change and limb-girdle predominance. The neck, tongue and ocular muscles were also involved, as were, to a less extent, the lower limbs. Although the loss of motor neurons in the spinal cord and at the bulbar level with the typical pattern of neurogenic muscular atrophy, as well as its distribution, resemble the facioscapulo-humoral type of heredity motor neuropathy (HMN), early onset, rapid course, sensory and autonomic involvement, and atrophy of the optic nerve do not fit this or any one type of HMN.

[Subtotal resection of the small intestine in newborn infants and infants. Results of an inquiry]. / Die subtotale Dünndarmresektion beim Neugeborenen und Säugling. Ergebnis einer Rundfrage

A circular was sent to eight clinics and 36 cases of children with extensive resections of the small intestine are reported. The reasons for the resections of the intestine were atresia and stenosis in the largest number of cases, then volvulus and lastly necrotizing enteritis. The residual intestine was measured with the measuring tape in only eight cases. The method of measurement in the other cases was not given. Surgery was unilateral in 26 cases and bilateral in ten. Surgical measures to slow passage were not used. The most frequent single causes of death were sepsis or pulmonary complications. The cause of death was a true malabsorption in only two cases. The main difficulties in the postoperative phase are ensuring adequate parenteral uptake of calories and the complications due to cava-catheter sepsis.