1. Recent biochemical studies of Krabbe's globoid cell leucodystrophy (GLD) in the author's laboratory are reviewed. 2. There is a profound deficiency of galactocerebroside β-galactosidase in the brain, liver, spleen, kidney, serum, leucocytes and cultured fibroblasts of patients with GLD. This deficiency has been found in all of the GLD specimens without exception, and it has not been found in any of normal or pathological controls. 3. The same enzymatic deficiency exists in the canine form of GLD. 4. In both human and canine GLD, heterozygous carriers of the disease generally show partially deficient activity of galactocerebroside β-galactosidase. 5. These results indicate that lack of galactocerebroside β-galactosidase is the genetically determined enzymatic defect underlying GLD. A satisfactory hypothesis has been constructed to explain known morphological and biochemical features of the disease on the basis of this deficiency, coupled with two unique features of brain galactocerebroside. 6. It is now possible to make definitive antemortem and prenatal diagnosis of GLD by assaying serum, leucocytes, cultured fibroblasts or aminiotic fluid cells for galactocerebroside β-galactosidase activity, without resorting to brain biopsies.
A 13 year old boy with hemiplegic migraine is reported. Three other family members, a grandfather, an aunt and an uncle are similarly affected. The patient had an attack of severe nausea and vomiting at age 4. He had episodes of nausea, vomiting and headaches every 3-4 months since the age of 5. At 11 years of age he started to have transient hemiparesis and hypesthesia associated with his attacks. The attack would usualy be initiated by blurred vision in the right half of the visual field of each eye. This was followed by numbness around the mouth with difficulty in speech. Numbness and weakness ascended to the right leg to involve the right arm. Then severe throbbing headache developed in about 30-45 minutes. At the height of headache he would vomit repeatedly. During headache the patient felt drowsy and muddled. As these symptoms faded away, visual disturbance and then numbness and weakness gradually decreased. The condition cleared completely in 24-48 hours. Phsical examination revealed convergence insufficiency of the left eye, horizontal nystagmus on lateral gaze and vertical nystagmus on upward gaze. Otherwise neurological examination was unremarkable. EEG's recorded at age 13 and 14 were normal while the waking record performed at age 16 revealed a few 3.5-4.5c/s slow waves in both occipital and post-temporal areas. Carotid angiogram was normal. Vertebral angiography reveald insufficient filling of vertebro-basilar system.
From the histological studies of 36 quadriceps femoris muscle specimens obtained by biopsy from patients with congenital muscular dystrophy, the following characteristic findings were observed; prominent perimysial and endomysial connective tissue infiltration from the eary stage, a little variation in size of the muscle fibers, and rare occurrence of phagocytosis, vacuolar degeneration and hypertrophic fibers. Histochemical examination showed remarkable deformities of end-plates but other findings were rather similar with those of Duchenne type PMD. By electron microscopic examination, focal destruction of sarcolemma by fusion with collagen tissue, autolytic body and dislocation of satellite cells were observed as characteristic findings. Peripheral nerves in biopsied muscle specimen were consisted of thin fibers smaller than 6μ in diameter.
Thirty-two patients with the age varying from 3 to 20 years who had cerebral palsy (15 cases), epilepsy (7 cases) mental retardation (7 cases) and phocomelia (3 cases) were examined by means of electroencephalography before and at certain intervals after the first and second inoculation with Japanese B encephalitis vaccine. Of the 32 patients, only one case of epilepsy showed the marked aggravation of EEG tracing after the second vaccination, His electroencephalogram which was examined 6 months later was greately improved. It seems extremely unlikely that electroencephalographic abnormality will be encountered after inoculation with this vaccine.
Bender Gestalt test in 60 normal children is scored by Koppitz method. The results are as follows: 5 years, 8.6 (σ=3.02), 6 years, 5.6 (σ=2.75), 7 years, 3.65 (σ=2.46). Bender Gestalt test in patients of postencephalitic disturbance (slight mental retards, autonomic epilepsy), minimal brain damage syndrome, and early childhood autism are shown and some problem with it's application in pediatric clinical practice are discussed.
Serial investigations were planned in an attempt to establish a developmental pattern in the EEG of normal children. As a part of this investigation EEGs were taken on 157 neonates and analyzed on each subject. All subjects had normal prenatal and birth histories and normal neonatal developments. Their ages ranged from one day to one month. Their birth weights were between 2900 and 3600 Gm. A characteristic sleep pattern of newborn EEG, “tracè alternant”, was observed. This pattern is characterized by (1) progressive changes from premature type into bilateral synchronous type during the first month of age and (2) its complete disappearance by the end of the first month. The tracè alternant was analyzed as to the morphology and periodicity of the burst -suppression pattern. The similarity of the periodicity between “tracè alternant” and the “hypsarhythmia” was noted. We postulate that the tracè alternant originates from subcortical areas and that its presence suggests functional immaturity of cortico-subcortical connection of the brain.