[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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The diagnosis of the infantile and adult types of Gaucher's disease and the carrier state by the β-glucosidase activities in peripheral blood leukocytes, granulocytes and mononuclear cells was studied. The β-glucosidase activities in three kinds of cells were found to have two pH optima, one at 3.5, the other at 5.0. The enzyme activity at pH 3.5 in mononuclear cells was about 2 and 4 fold as high as in leukocytes and granulocytes.
The β-glucosidase activities at pH 3.5 from the patients with both types of Gaucher's disease were diminished in three kinds of cells, while the enzyme activities at pH 5.0 overlapped the lowest value of heterozygotes. The enzyme activities from five parents at pH 3.5 in mononuclear cells did not overlap the lowest value of normal subjects. On the other hand, the enzyme activities at pH 3.5 in both granulocytes and leukocytes of five parents overlapped the normal values.
Thus the measurement of β-glucosidase activity at pH 3.5 in mononuclear cells makes it possible to distinguish three groups of individuals, Gaucher's patients, heterozygous carriers and normal subjects.

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An 8-year-old boy with idiopathic basal ganglia calcification was reported. He was brought to our clinic on July 12th, 1978 because of gait disturbance and intension tremor of the left hand. The family history was not particular. His gestational and neonatal history was unremarkable. He had generalized convulsions at the ages of 20 days and 27 days. A slight delay in intellectual milestones was recognized but he did well until 10 months before admission. On admission neurological examination revealed horizontal nystagmus at lateral gaze, slurred speech, and intention tremor, dysmetria, dysdiadochokinesia of the left hand. Equilibrium reaction was slightly disturbed on the left side. Laboratory studies were within normal range including complete blood count, urinalysis and blood chemistry. The analysis of cerebrospinal fluid was normal. The endcrinological studies revealed normal secretion of GH, TSH, FSH, LH, and cortisol. Ellsworth-Howard test gave a normal result. An electroencephalogram showed slight slow dysrhythmga in the background activities especially on the right occipital region but did not show any abnormal paroxysmal activities. Roentgenography and computed tomography of the skull disclosed bilaterally symmetric calcification in the basal ganglia and dentate nuclei. Angiographies of both caroteid and the right vertebral artery were normal.
Our case did not show any clinical features and laboratory data of the following disorderes; hypoparathyroidism, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, hyperthyroidism, toxoplasmosis, tuberous sclerosis, Cockayne's syndrome. From these findings, this patient was considered to be a case of idiopathic basal ganglia calcification.

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Neuroradiological study was carried out on a 3 year-old girl with Sturge-Weber syndrome. There were port-wine mark hemangiomas on her right upper arm, face and chest, associated with left spastic hemiparesis.
X ray examination of the skull showed thicking of right side calvarium of central bone and upward elevation of petrous ridge and no abnormal calcifications.
Computed tomography revealed brain atrophy of right hemisphere and high density area on frontal lobe of the right hemisphere. The right cerebral hemisphere was well enhanced by injection of contrast medium.
RI cisternography (Yb) and RI Brain scan (Tc) also revealed high concentration of the radioisotopes on right cerebral hemisphere.
CAG examination revealed atrophic findings and venous hemangioma on right hemisphere.
It seems to be possible to obtain these findings also be puted tomography.

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The present case is probably a rare and variant type of spinal muscular atrophy, similar to Charcot-Marie-Tooth type of progressive muscular atrophy (Dyck PJ and Lampert EH: Arch Neurol 18: 603, 1968) with difference in age of onset and in clinical findings of selective muscular weakness in anterior tibial muscle without signs of muscular involvement of the upper extremities.
This 6-year-2-month old boy was a product of nonrelated parents without neuromuscular disorders in the family history. He was noticed to have disability of dorsal flexion in the foot joints at 6 months of age, and steppage gait on walking later. Motor development was normal. Running was possible at 2 years of age, except flaccid drop feet persisting without improvement. He was a slender but alert boy.
Neurological examination revealed normal cranial nerves without cerebellar signs or sensory disturbance. No evidence of ataxia, fasciculation and contracture of joints was observed. Deep tendon reflexes in the lower extremities were all hypoactive without pathological reflexes. Flaccid drop feet with pes cavus and hammer toes were persisting.
Muscle testing (Daniels L) revealed trace in anterior tibial muscle, good in peroneal muscle, and or normal in other muscles of all the upper and lower extremities. Blood chemistry was normal.
Motor nerve conductinn velocity, terminal latency and M wave amplitude in the right median, tibial and peroneal nerves were all normal. Sensory nerve conduction velocity, action potential in the right median and sural nerves were also normal. Strength-duration curve and chronaxy were normal in peroneal muscle, but showed a partial denervation pattern in anterior tibial muscle.
Light and electron microscopic findings of biopsied sural nerve were normal. However, histochemical studies of biopsied quadriceps femoris disclosed predominance of type I fiber with small group atrophy, and reduced number of type 2 fiber with hypertrophy. An increase in both glycogen particles and myofibrils with dense cytoplasmic bodies surrounded by lighter halos and myeloid bodies in atrophied muscle fibers was observed electron-microscopically.

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