Kiyoomi Sumi

Pure red cell aplasia during carbamazepine monotherapy

A 7-year-old girl developed pure red cell aplasia during carbamazepine (CBZ) monotherapy for epilepsy. She developed generalized clonic convulsions at the age of 7 years and 8 months. Treatment with CBZ was begun. Two months later she was admitted to our hospital because of severe anemia. Bone marrow examination revealed the almost complete absence of erythroblasts, with normal myelopoiesis and megakaryocytopoiesis, indicating pure red cell aplasia. Following the discontinuation of CBZ, she developed brisk reticulocytosis within 1 week and her hemoglobin level rose to a normal one within 1 month. Although the hematological toxicity of CBZ is well documented, isolated cessation of red cell production is uncommon. A patient who is undergoing treatment with CBZ should be carefully monitored, especially for serious adverse reactions including pure red cell aplasia.

Antiepileptic effects of Clobazam in children

Many benzodiazepines used as anticonvulsants have nitrogen radicals in positions 1 and 4. Clobazam has nitrogen radicals in positions 1 and 5. We studied the antiepileptic effect of clobazam in 36 patients with intractable epilepsies in childhood. Their ages were 1 year 1 month to 16 years 5 months (mean 8 years). The mean initial dose was 0.33 mg/kg of daily doses and increased up to 0.71 mg/kg. Nine cases (primary generalized epilepsy 2/2, secondary generalized epilepsy 7/29) were completely free from seizures, and another 9 (secondary generalized epilepsy 8/29, partial epilepsy 1/5) experienced a decrease of 50% or more in seizure frequency. Seizure frequency did not change in 16, and increased in the other 2 (secondary generalized epilepsy 2/29). The antiepileptic effects were observed on the first day to 10th day after clobazam treatment. There were recurrences of seizures in 4 out of 9 patients with complete control of seizures, 1 month alter in 3 and 10 months later in one. Mean serum clobazam level of 7 improved cases was 73 ng/ml and that of 3 cases with no response was 94 ng/ml. Although mild clinical side effects such as drowsiness were observed transiently in 17 cases, no abnormality was found in laboratory investigations performed.

Nonconvulsive status epilepticus in a child with congenital bilateral perisylvian syndrome

A 9-year-old male with congenital bilateral perisylvian syndrome is described. He had pseudobulbar palsy, mental retardation, and intractable epilepsy. Computed tomography and magnetic resonance images of the brain demonstrated bilateral perisylvian malformations and a diffuse pachygyric appearance. At 8 years of age, he had episodes of excessive drooling, fluctuating impairment of consciousness, unsteady sitting, and frequent head drop that lasted several days. The electroencephalogram demonstrated continuous diffuse slow spike and waves. These findings suggested atypical absence status epilepticus. Intravenous administration of diazepam resulted in transient improvement of clinical and electroencephalographic findings. Status epilepticus recurred within several minutes after diazepam administration. Although no patient has been reported to have a history of status epilepticus among those affected by this syndrome, it seems that atypical absence status can occur more frequently than expected, as seen in Lennox-Gastaut syndrome. After recognition and confirmation of nonconvulsive status epilepticus, immediate treatment must be attempted.

Internal carotid blood flow velocity in children with cerebral palsy by doppler ultrasound method

Cerebral blood flow assessed noninvasively by Doppler ultrasound technique in 30 children with cerebral palsy. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of internal carotid artery were measured before and during brief digital compression of contralateral common carotid artery. Both A/L and d values in children with cerebral palsy were significantly lower than those observed in normal healthy children. In 13 children with spastic hemiplegia, no significant difference in either A/L or d was seen between the non-affected side and affected side both before and during brief digital compression. This data suggests that mean cerebral blood flow decreases in our children with cerebral palsy, and that no lateralization of the decrease in hemispheric cerebral circulation in hemiplegic children may explain by supposing the existence of generalized bilateral brain damage in those subjects.

Cerebral blood flow changes in orthostatic dysregulation fainters

The changes in blood flow of both the internal carotid and the vertebral artery during orthostatic test with or without fainting attack were studied in 25 healthy children and 30 patients with orthostatic dysregulation (OD). In healthy children and non-fainted OD patients, no change in blood flow occurred in either the internal carotid artery or the vertebral artery during orthostatic test. On the other hand, a significant decrease in blood flow of the internal carotid artery and/or the vertebral artery occurred during fainting of OD patients. These data suggest that three mechanisms might be involved in fainting of OD patients; a decrease in blood flow of the internal carotid artery, the vertebral artery and a decrease in blood flow of both these arteries.

Intravenous Flunitrazepam for Status Epilepticus

Flunitrazepam (FZP) was administered intravenously, with success, to two patients with status epilepticus. Case 1 was a patient with a tonicclonic status epilepticus. Intravenous phenytoin had no effect. Case 2 had minor status epilepticus. With the intravenous administration of FZP, diluted 1:10 with distilled water at a dose of 0.03 mg/kg at a slow rate, both patients were relieved of the status epilepticus. Unlike diazepam, FZP neither looks cloudy when diluted with distilled water nor causes angialgia. No disturbances in circulation or respiration occurred. Considering that FZP has a strong anticonvulsant action on status epilepticus, it can be expected to be a useful therapeutic agent for status epilepticus in infants and children.

Chromatographic study of serum hexosaminidase in normal and GM 2-gangliosidosis.

Abstract β- N -Acetylhexosaminidase in normal human serum was separated into four components by DEAE-cellulose chromatography. The first three peaks were all heat stable. Neither conversion from heat-labile to heat-stable components, nor mutual conversion among heat-stable components occurred by heat treatment of serum. Serum hexosaminidase of Tay—Sachs disease patients had a high level of heat-stable components, especially of I 1 and I 2 , and this was similar to that of brain tissue. The activity of each component of a heterozygote of Tay—Sachs disease and Sandhoffs disease was intermediate between the normal and patient levels.

A Clinical Study of Seizures Induced by Hot Bathing

Infantile convulsions are often caused by fever and diarrhea, but some infants and children have seizures induced by hot bathing2, although many Japanese enjoy taking a hot bath for a long time. There are a few reports with regard to seizures induced by hot bathing. Bathing seizures can be divided into seizures alone induced by hot bathing and various epilepsies induced by hot bathing. The latter will be read in another paper. The seizures alone which were induced by hot bathing were studied clinico-electroencephalographically in this paper.

Studies on Cerebral Lipidosis Prenatal Diagnosis of Tay‐Sachs Disease*

In the attempt to diagnose TSD, amniotic fluid was obtained by amniocentesis in a mother whose first child was TSD. Amniotic fluid and uncultured amniotic cells showed absence of hexosaminidase A. The fetus was diagnosed as TSD and the pregnancy was terminated through artificial abortion. Hexosaminidase A in the fetal brain and liver was deficient and an increase of ganglioside Gm2 was observed in the brain of the affected fetus.

A clinical study on febrile non-convulsive seizures

lated’ seizures, while severe myoclonic epilepsy in infancy is a eight patients (25%) with FNC and 44 (11%) with convulsive syndrome which has the worst prognosis among these categories. febrile seizures. The type of subsequent epilepsy was partial in all We evaluated the clinical features and prognosis of epilepsy FNC patients, while only 70% of patients with febrile convulsive cases with ‘fever-related’ grand ma1 seizures. seizures had subsequent partial epilepsy. Subjects and Methods. From January 1981 to December 1985, 550 cases were diagnosed as having epilepsy, febrile convulsion or other situation-related seizures starting in the first year of life. We selected 128 cases in whom the seizure type was mainly grand ma1 and who were followed up until at least 6 years of age. Epilepsy cases were classified into four groups based on two criteria with or without the tendency to be provoked by fever (‘fever-related’), and control of fits for 2 or more years vs. less than 2 years. Febrile convulsions were divided into two groups: total fits exceeding 5 vs. 5 or less. In each case, age at seizure onset, family history of convulsion, etiology, seizure type, epilepsy classification and developmental prognosis were evaluated. Conclusion. These results suggest that subsequent epilepsy develops more frequently in patients with FNC than in those with febrile convulsive seizures, and that epilepsy in FNC patients is partial and therefore has a relatively benign prognosis.