Yukihiko Katafuchi

A pilot study on the anticonvulsive effects of a thyrotropin-releasing hormone analog in intractable epilepsy.

In 1981, Inanaga et al reported on the efficacy of DN-1417 (a TRH analog) in the treatment of degenerative myoclonus epilepsy and other forms of intractable epilepsy. Following this report, we studied the efficacy and safety of DN-1417 treatment in 10 intractable epileptic children ranging in age from 6 months to 11 years (mean 4 years), including 7 with Lennox syndrome (LS), 2 with West syndrome (WS) and 1 with degenerative myoclonus epilepsy (DME). The daily dose was from 0.02 to 0.05 mg/kg, initially, and then was increased to 0.05 mg/kg. Complete control of seizures was achieved in 2 patients with LS, a 50% or greater decrease in seizure frequency was observed in one patient each with LS and DME and a less than 50% decrease in 1 with LS and 2 with WS. There was no change in 2 LS cases, and 1 LS case became worse. Activation of psychic activities, such as psychomotor activity, facial expression and motivation, was also noted in 7 of the 10 patients. Furthermore, improvement of motor function was noted in 5 patients. Electroencephalographic abnormalities improved in 2 completely seizure free patients with LS in which EEG ameliorated along with clinical seizure control.

Partial Trisomy 6P With Agenesis of the Corpus Callosum and Choanal Atresia

ents, a 30-year-old mother with the karyotype of translocation 3q;6p and a 32-year-old father with a normal karyotype. Their first child was a healthy 4-year-old boy with a normal karyotype. The second child died of congestive heart failure 2 days after birth, with multiple malformations. Her karyotype was 46,XX,3q+, and the derivative chromosome was presumed to be the short arm of chromosome 6. The patient was delivered by cesarean section at 34 weeks’ gestation because of fetal distress. At birth, he weighed 1820 g, showed no spontaneous respiration, and was cyanotic. His length and head circumference were 40.0 cm and 30.8 cm, respectively. He had an odd face with frontal bossing; a flat occiput; blepharophimosis and blepharoptosis with nystagmus; a high, flattened nasal root with a bulbous bridge; a long philtrum; low-set, malformed ears with preauricular pits; a small mouth; a pointed chin; and a short, broad neck (Figure 1). Choanal atresia and sacral dimples were observed. Ultrasonograms of the heart and kidneys were normal. Cranial ultrasonogram and computed tomographic and magnetic res-

Adrenoleukodystrophy: fatty acid analysis of total glycerophospholipids in erythrocyte membranes

ABSTRACT – The saturated fatty acids released from the erythrocyte membranes of four patients with adrenoleukodystrophy (ALD) and 14 diseased controls were analyzed by high performance liquid chromatography. The ratios of C26:0 to other saturated fatty acids in ALD were higher than those of diseased controls, and neither false‐positive nor false‐negative samples were observed. These results suggest that a study of fatty acids of total glycerophospholipids in erythrocyte membranes by high performance liquid chromatography is a useful diagnostic method of ALD.

Very long-chain fatty acids in neutral lipids and glycerophospholipids of adrenoleukodystrophy-cultured skin fibroblasts

Three major lipid fractions, i.e., cholesterol ester, triacylglycerol and glycerophospholipids, were investigated cultured fibroblasts to clarify whether very long-chain fatty acids were accumulated or not. Abnormally accumulated very long-chain fatty acids were confirmed in all three lipid fractions. Our results support our previous report that there may be a generalized abnormal metabolism of very long-chain fatty acids in adrenoleukodystrophy.

Cortical blindness in acute carbon monoxide poisoning

A 3-year-old boy had persistent cortical blindness following acute carbon monoxide poisoning. He was believed to have suffered anoxic brain damage due to incomplete combustion of the briquette-type solid fuel. Computed tomographic (CT) scan of the brain and visual evoked potentials (VEP) in the early stage were normal. However, on the 20th hospital day CT scan showed leukomalacia and VEP showed an absence of N1-, and P1-waves which was well correlated with the clinical feature at that time.

Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy)

An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking non-progressive, complete external ophthalmoplegia and mild ptosis. A muscle biopsy specimen showed non-specific myopathic changes, including mild variation in fiber size, mild type 1 fiber predominance, type 2B fiber deficiency and slightly increased acid phosphatase activity. Complete ophthalmoplegia may thus be seen not only in myotubular myopathy but also in various forms of congenital non-progressive myopathy.

A Childhood Form of Huntington’s Disease Associated with Marked Pyramidal Signs

The case of a childhood form of Huntingtons disease in a 9-year-old boy is reported. The patient had complaints of generalized convulsions from the age of 4, and progressive motor disabilities and mental deterioration from the age of 6. His father had suffered from Huntingtons disease for 10 years, and his paternal uncle and aunt, who died at the age of 52, were diagnosed as having this disease. Neurological examination revealed severe mental retardation and marked pyramidal signs. He has no signs or symptoms of involuntary movement, muscular rigidity or ataxia. Axial computed tomography showed marked dilatation of the frontal horns and suggested caudate atrophy. This case is atypical of a childhood form of Huntingtons disease because of the lack of muscular rigidity and choreiform movement. But computed tomographic findings correspond to that typically seen in cases of adult Huntingtons disease.

Subacute necrotizing encephalomyelopathy (Leigh disease): report of a case with Lennox-Gastaut syndrome

More than 100 cases of Leigh disease have been reported. None have shown Lennox-Gastaut syndrome. We report here the first known case of Leigh disease with Lennox-Gastaut syndrome, and discuss the clinical course in detail. A 3 1/2-year-old-boy was admitted with multiple symptoms and despite various therapies he died at age of ten years. Serial CT showed marked cerebral atrophy, ventricular dilatation, and an arachnoid cyst in the posterior fossa. Histopathological findings on autopsy of the brain and spinal cord were consistent with those characteristic of Leigh disease. In the chronic course of Leigh disease, the cerebral cortex was also involved and the Lennox-Gastaut syndrome might be complicated.

A case of Isaacs syndrome with high CSF protein and a large cisterna magna

An 11-year-old boy exhibited continuous muscle fiber activity. He had suffered from stiffness of his hands, difficulty in relaxing his hands after gripping, and making skilled movements with his fingers. His clinical symptoms improved after treatment with carbamazepine. Electromyography (EMG) showed that he had continuous electrical discharges both at rest and during sleep. These discharges completely disappeared after the peripheral nerve was blocked with Lidocaine. An evoked electromyogram showed suppression of abnormal discharges after the F response. These electrophysiological findings indicated that the disorder originated in the spinal anterior horn cells. CT scanning showed a large cisterna magna in the posterior cranial fossa. Protein in the cerebrospinal fluid was elevated.

Response to Jeret

4. Jeret JS, Serur D, Wisniewski K, Lubin RA: Clinicopathological findings associated with agenesis of the corpus callosum. Brain Dev 1987;9:255-264. 5. Bijlsma JB, Wijffels JC, Tegelaers WH: C8 trisomy mosaicism syndrome. Helv Paediatr Acta 1972;27:281-298. 6. Gustavson KH, Hagberg B, Santesson B: Mosaic trisomy in the 6-12 group in a patient with multiple congenital abnormalities. Acta Paediatr Scand 1967;56:681-686. 7. Higurashi M, Naganuma M, Matsui I, Kamoshita S: Two cases of trisomy C6-12 mosaicism with multiple congenital malformations. J Med Genet 1969;6:429-434. 8. Lejeune J, Dutrillaux B, Rethore MO, et al: Sur trois cas de trisomie C. Ann Genet 1969;12:28-35.