Biomedical subjects

S Akaboshi

Publications and source records attributed to S Akaboshi.

At least 37 records · Page 2Linked to original sources

PubMed1997

Peroxisomal bifunctional enzyme deficiency: serial neurophysiological examinations of a case.

We report on a case of 21-month-old girl with peroxisomal bifunctional enzyme deficiency, which was diagnosed by means of complementation analysis. Serial neurophysiological examinations were also carried out. The motor and sensory nerve conduction velocities of the median nerve showed lower borderline values at 3 months of age and were within range at 11 months of age. Later, those velocities gradually decreased. The electrically elicited blink reflex at 3 months of age showed the prolongation of latencies of R1, R2 and R2' and the interpeak latencies of R1-R2 and R1-R2'. Furthermore, R1, R2 and R2' showed prolonged latencies at 11 months of age and were absent at 15 months of age. The auditory brainstem response (ABR) showed, bilaterally, normal latency of wave I, prolonged interpeak latencies of waves I-V. At 11 months of age, waves III and IV-V of ABR were detected, but their amplitude was very low. At the age of 15 months ABR was absent. These results and the following report are valuable for understanding the pathogenesis of neurological symptoms.

3-Hydroxyacyl CoA Dehydrogenases↗

PubMed1997

Bile acid profiles in a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.

Bile acid profiles in serum, urine and bile from an infant with a peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (D-bifunctional protein) deficiency were analyzed by means of gas-liquid chromatography, gas-liquid chromatography-mass spectrometry, and high-performance liquid chromatography. As in such several peroxisomal disorders as Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, the accumulation of C27-bile acid intermediates was also demonstrated in the infant with D-bifunctional protein deficiency, accounting for 74% of the total bile acids in serum, 59% in urine, and 35% in bile. In addition, the major constituents of the C27-bile acids were (24R,25R)- and (24R,25S)-3alpha,7alpha,12alpha,24-tetrahydroxy-5be ta-cholestanoic acids along with small amounts of their 24S counterparts. Since immunoreactive acyl-CoA oxidase, L-bifunctional protein, and thiolase were all present in the liver, the impairment of the oxidative side-chain cleavage in bile acid biosynthesis is considered to be due to the defect of D-bifunctional protein.

17-Hydroxysteroid Dehydrogenases↗

PubMed1997

Epilepsy in peroxisomal diseases.

PURPOSE: To clarify the electroclinical manifestation of epileptic seizures and the evolution of epilepsy in patients with peroxisomal diseases. METHODS: Retrospective review of the medical records and EEGs of 14 patients with peroxisomal diseases: seven with Zellweger syndrome (ZS), two with neonatal adrenoleukodystrophy (NALD), two with acyl-CoA oxidase deficiency (AOXD), two with bifunctional enzyme deficiency (BFED), and one with rhizomelic chondrodysplasia punctata (RCDP). The diagnoses were made by biochemical analysis and pathological examinations in our laboratory. RESULTS: Patients manifested serious neurologic deficits in the neonatal period or in early or late infancy. Patients with ZS or AOXD had partial motor seizures originating in the arms or legs or corners of the mouth. Their seizures did not culminate in generalized tonic-clonic seizures and were easily controlled by antiepileptic drugs (AEDs). Interictal EEGs of the patients with ZS showed infrequent bilateral independent multifocal spikes, predominantly in the frontal motor cortex and its surrounding regions. The EEGs of patients with AOXD showed interictal fast theta activity, predominantly in the frontocentral regions. Patients with BFED also had partial motor seizures in early infancy, but the seizures were intractable, evolving in one case to myoclonic seizures. Interictal EEGs of patients with BFED showed bilateral independent multifocal spikes that evolved to bilateral diffuse high-voltage slow waves in one case and to a hypsarythmic pattern in another case as the disease progressed. Patients with NALD had intractable tonic seizures or epileptic spasms. Interictal EEGs showed high-voltage slow waves and bilateral independent multifocal spikes, evolving in one patient to a flat pattern. The patient with RCDP, whose interictal EEGs showed frequent multifocal independent spikes, did not have epileptic seizures. CONCLUSIONS: The age of epilepsy onset or the duration of survival is related to the types of seizures occurring in patients with peroxisomal diseases. Neonates or young infants usually have partial motor seizures (facial twitching or clonic convulsions of the arms or legs) of various multifocal origins. Older infants may have generalized seizures at the onset of the disease or evolutionally. Seizure intractability is usually less severe in patients with ZS or AOXD than in patients with NALD or BFED. There is no relation between the electroclinical characteristics of epilepsy and the genetic complementation groups in peroxisomal diseases.

Acyl-CoA Oxidase↗

PubMed1996

[A case of heat stroke with cortical laminar necrosis on vascular boundary zones].

We report a 10-month-old boy with heat stroke because he was left in a car. He showed hyperthermia, coma and convulsions at the time of his admission. Liver dysfunction and coagulopathy were observed, but they were improved after several days. Consciousness was gradually recovered, but currently he shows neurological sequelae. Cranial CT showed brain edema until the 7th hospital day. Cranial MRI on the fortieth hospital day showed the finding of cortical laminar necrosis in the vascular boundary zones. This finding suggest that brain ischemia was related with the neurological involvement of heat stroke.

Brain↗

PubMed1995

Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome.

The carbohydrate-deficient glycoprotein syndrome is a newly recognised genetic disorder characterised by mental retardation, liver disfunction during infancy, cerebellar ataxia and atrophy, polyneuropathy, growth retardation, stroke-like episodes, and the appearance of carbohydrate-deficient fractions of multiple glycoproteins in the serum. The neuroradiological findings have been known as features of olivopontocerebellar atrophy. However, whether the abnormalities in the cerebellum and brain stem progress after birth is not known. We have carried out serial CT and MRI on three Japanese patients with this syndrome at different ages. A small cerebellum, with peculiar enlargement of the cisterna magna, and a small brain stem are present in infancy and atrophy of the anterior vermis and from before backwards in the cerebellar hemispheres seem to progress throughout early childhood.

Adolescent↗

PubMed1995

[Clinical studies of learning disability. Part II: A prospective study of children with risk factors for learning disability at three year-old screening].

We followed children with the risk factors for learning disability (LD) at the three year-old screening prospectively. The five risk factors were speech delay, hyperkinesia, delayed social skill, delayed comparative conception (big and small, long and short) and mutistic behaviour. We evaluated seventeen elementary school children using WISC-R and the Pupil Rating Scale Revised. Six of them were diagnosed as normal, six were learning-disabled, and five were mentally retarded children. We proposed that the screening of LD at three years by the risk factors were effective but only partially.

Child↗

PubMed1995

[Niemann-Pick disease type C].

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder, but the basic defect has not yet been clarified. Diagnostic biochemical makers are intracellular accumulation of free cholesterol or the decreased esterification of exogenous cholesterol. The differences in the severity of defective esterification are related to the onset of the disease. Genetically, an abnormal gene is located on the human chromosome 18. Biochemically, many drugs, i.e. imipraine, progesterone and bafilomycin A1 are known to interfere with cholesterol esterification. Clinically, vertical supranuclear gaze palsy and cataplexy are specific symptoms. The filipin stain of the foamy cell in bone marrow is available for rapid diagnosis. Many therapies, i.e. dimethyl sulfoxide, low-cholesterol diet and transplantations, have been challenged but improvement of neurological symptoms have not been reported.

Animals↗

PubMed1994

Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.

We describe four infants with a novel subtype of an isolated deficiency of one of the peroxisomal beta-oxidation enzymes with detectable enzyme protein. The patients showed characteristic clinical and biochemical abnormalities, including hypotonia, psychomotor retardation, hepatomegaly, typical facial appearance, accumulation of very-long-chain fatty acids, and decreased lignoceric acid oxidation. However, beta-oxidation enzyme proteins were detected by immunoblot analyses, and large peroxisomes were identified by immunofluorescence staining. In order to identify the underlying defect in these patients, complementation analysis was introduced using fibroblasts from these patients and patients with an established deficiency of either acyl-CoA oxidase or bifunctional enzyme, as identified by immunoblotting. In the complementing combinations, fused cells showed increased lignoceric acid oxidation, resistance against 1-pyrene dodecanoic acid/UV selection, and normalization of the size and the distribution of peroxisomes. The results indicate that two patients with a more severe clinical course were suffering from bifunctional enzyme deficiency and that the other two infants, who were siblings and had a less severe clinical presentation, were the first patients with acyl-CoA oxidase deficiency with detectable enzyme protein.

3-Hydroxyacyl CoA Dehydrogenases↗

PubMed1992

The carbohydrate deficient glycoprotein syndrome in three Japanese children.

We describe 3 children (from two families) with a multisystemic disorder characterized by mental retardation, nonprogressive ataxia, polyneuropathy, hepatopathy during infancy and growth retardation. Due to the clinical similarities to a recently recognized disorder associated with carbohydrate-deficient transferrin, we examined serum transferrin by means of isoelectric focusing, and found increases in disialo transferrin and asialotransferrin. Removal of sialic acid with neuraminidase revealed the same transferrin phenotypes as in their parents. Similarly, carbohydrate-deficient fractions of serum alpha 1-antitrypsin were also detected. Therefore, the diagnosis was made of the recently identified carbohydrate-deficient glycoprotein syndrome. This is a genetic disorder with distinctive clinical features and multiple carbohydrate-deficient glycoproteins. These seem to be the first reported Japanese patients with this syndrome.

Adolescent↗

PubMed1989

A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy.

The pathological findings for a sural nerve biopsy specimen in a case of neonatal adrenoleukodystrophy are described. The density and total number of myelinated fibers in the patient showed no significant changes compared with controls. On electric microscopy, however, thickness of the myelin was smaller in the patient than in controls. Some linear or trilamellar inclusion bodies were found in Schwann cells and fibroblasts, similar to those found in X-linked adrenoleukodystrophy. Büngner's bands were also seen on electron microscopy, and myelin ovoids and balls were seen in teased fibers. These results show that a sural nerve biopsy is useful for the diagnosis of neonatal adrenoleukodystrophy. We suspect that axonal or neuronal degeneration occurs with changes in myelin in neonatal adrenoleukodystrophy.

Adrenoleukodystrophy↗

PubMed1988