A Case of Juvenile Gaucher's Disease With Intraneuronal Lipid Storage

The juvenile form of Gaucher's disease with chronic involvement of the nervous system appears to be distinctly rare.Cases have been described by Evans (1916), Reiss and Kato (1932), Myers (1937), Bird (1948), andBrain (1954).Lipid storage was noted in the nerve cells in the only two cases com- pletely examined histologically, namely those of Bird and Brain.This report describes the pathological and bio- chemical observations made in a further case believed to bolong to this rare variant of Gaucher's disease.Case Report The patient, a girl, was born on April 14, 1949, and died at the age of 8 years 9 months on January 16, 1958.She was the eldest of six siblings and her parents (non- Jewish) are alive and healthy.Delivery at term was uneventful and thereafter she apparently developed nor- mally until the age of 5 years, when she started school.Her scholastic progress was unsatisfactory and she was transferred to a special school at the age of 6 years, where she was found to have a mental age of 3 years, to be restless, incontinent, destructive, and unsteady on her feet.Mental deterioration continued, necessitating her removal from school and she began to have major epileptic fits with clonic movements of the right side of the body in February 1957.Examination of the nervous system at that time was quite negative, and in particular the fundi oculi were normal.The erythrocyte sedi- mentation rate was 35 mm. in one hour.Electroencephalography showed bilateral, symmetrical, slow wave-and-spike discharges.Cerebrospinal fluid con- tained protein, 12 mg.per 100 ml., sugar 75 mg.per 100 ml., chlorides 736 mg. per 100 ml., and culture was sterile.A cerebral biopsy (April 23, 1957) revealed equivocal changes in some neurones which were thought to be consistent with, but not diagnostic of, cerebral lipidosis.During the subsequent months she became aphasic and developed athetoid movements in all limbs, general hyper-reflexia, bilateral extensor plantar responses and spasticity of the right arm.She was now confined to bed and despite anticonvulsant drugs, frequent brief