In 1971, the effects of the administration of normal human plasma to patients affected by mucopolysaccharidoses ( I and II) have been evaluated by Di Ferrante et al. In this report, the pattern of urinary acid mucopolysaccharide excretion after the administration of normal human plasma to various patients with mucopolysaccharidoses ( I and IV), new type of mucolipidosis, I -cell disease or GM1gangliosidosis (type I and type 2) has been studied using the cetylpyridinium chloride (CPC) precipitation method as described by Di Ferrante et al. Furthermore, the effects obtained with this treatment were also described.
Screening program for hyperuric acidemia in childhood revealed 6 cases which showed a persistent elevation of serum uric acid. Among them, case H. Y. showed a negligible activity of HGPRT and normal activity of APRT in erythrocytes. Case K. T. showed a moderate decrease in HGPRT and normal levels of APRT, suggesting a genetic variant of HGPRT deficiency. Case I. S. showed a normal level of HGPRT and a moderate decrease in APRT. The remaining cases were normal in both HGPRT and APRT.
The authors presented one family of benign form of X-linked pseudohypertrophic muscular dystrophy, which included six patients and three definite carriers. It was noteworthy that ages of the onset of the disease wera as early as three to six years, different from the deescribed by Becker.
Presenting an autopsy case of globoid cell leucodystrophy, the diffuse cerebral sclerosis is discussed from clinical and laboratory aspects. A boy aged 3 years and 5 months at the time of death was the first child from parents with consanguinous marriage. He was born uncomplicatedly after fulltime normal pregnancy with birth weight of 2, 500gm. Hyperirritability developed and his mental and motor function began to regress at the age of 10 months. At the age of 1 year 1 month, opisthotonus appeared with hypertonicity of muscle and increased deep reflexes. Since 1 year and 7 months of age, generalized tonic convulsions developed, and decerebrated rigidity appeared before the age of 2. In advanced stage, optic atrophy and frequent hyperpyretic episodes were observed. However, muscle hypotonia or hyporeflexia were not noticed.
It is frequent finding to see lipoma formation with spina bifida and these combination is usually included in spina bifida occulta. We have experienced 2 cases of these. These were operated and its structure was investigated. Spina bifida and protrusion of the meninges with lipoma was observed. From these findings we can not conclude that this is merely a lipoma formation inside the spinal canal or spina bifida occulta, and the term lipomeningocele may be an adequate name. Ingraham (1943) used the term lipomeningoce le, and lipomeningomyelocele. Emery (1969) studied the cases of lipoma of caucla equina and lipomatous mass associated with spina bifida and classified these in 6 different types. To attempt comple te excision of lipomatous mass is usually unwise. Decompression and cosmetic operation are usually the aim of operation. We mentioned that the term sp ina bifida occulta include lipomeningocele and lipomeningomyelocele and operative finding of 2 cases of these conditions was described. Also other papers on lipomatous mass associated with spinal cord were reviewed.
A case of maple syrup urine disease was reported. This female infant was hospitalized at the 15th day after birth, abecause of poor sucking and fever. Two weeks after hospitalization peculiar odor of maple syrup in the urine was detectected and 2, 4dinitrophenylhydrazine reaction of the urine became positive. At 31/2 months of age treatment wa s begun by the diet without valine, leucine and isoleucine. But she died of pneumonia at the age of 41/2months.
A patient, 11 year old boy, is described with a occulsion of the circle of willis developed three months after the removal of cerebellar astrocytoma. Pre-and postoperative angiograms show ed no abnormal vasculature in the supratentrial region except internal hydrocephalus. Several attacks of transient hemiparesis were initiated two months postoperatively. Generalized convulsion followed with right side hemiplegia and with motor aphsia was noticed three months after the operation. Four vessel angiograms revealed typical patterns of the occulsion of the circle of Willis when these symptomes were prominent. Authors concluded that abnormal vascular network was the collateral pathway secondarily due to the occulsion of the circle of Willis. It is suggested that the cause of vascular occulsion may not correlate with cerebellar tumor.
A case of minor seizure statuus of a 5 year old boy with diffuse slow waves on his electroencephalogram was described. Two of thre e members of his family were epileptics, the father has had psychomotor seizures, and the elder sister has had generalized tonic-clonic convulsions and attacks of headache. The patient had experienced sudden onset of pure petit mal attacks two weeks before the status, and the attacks gradually increaded in spite of DPA administration. Cloudiness of consciousness developed in a few hours, attained to coma, and gradually cleared to disappear within about 10 hours. The EEG showed irregular high voltage slow waves scattered with diffuse spikes, but rhythmic spike-wave burst, which was shown before and after the minor seizure status, was not observed. As the conscio usness cleared up, slow waves were taken place by faster waves and rhythmic spikewaves appeared. The attacks were effectively controled by ethosuccimide and phenobarbital.
Clinical manifestations of head injury in children seemed to be different from those of adults. Particularly, abdominal symptoms appeared more frequently in children after head injury. The authors have reviewed the abdominal symptoms in 280 head injured child ren. The results are as follows: Thirty-five percent of all head injured children have revealed vomiting (31% among 216 cases of mild grade injury, and 52% among 64 cases of severe grade injury). Correlation between EEG findings and abdominal symptoms had been stu died in 52 cases of mild grade of head injury. Higher incidence of abnormal EEG were observed in cases with recurrent vomitng, and also the abnormality of EEG has lasted longer.