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Hirofumi Komaki

Publications and source records attributed to Hirofumi Komaki.

12 recordsLinked to original sources
PubMed2007

[A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder].

Möbius syndrome is a rare disorder characterized by congenital bilateral facial nerve palsy. Abducent palsy or other cranial nerve palsy, facial malformations, limb malformations, and skeletal malformations are common features associated with this syndrome. We report a 9-month-old infant in whom congenital muscular disorder was previously suspected because of facial muscle involvement (mask-like face), respiratory and swallowing disturbances, and hypotonia since birth. After an improvement in the respiratory infection, she showed slightly exaggerated deep tendon reflexes and an improvement in muscle tone. The occurrence of combined facial nerve palsy, glossopharyngeal nerve palsy, vagus nerve palsy, and hypoglossal nerve palsy strongly suggested that she had Möbius syndrome. Finally, the absence of the roots of bilateral facial nerves on an MRI confirmed that the disorder was Möbius syndrome. We propose that a thin slice MRI should be obtained to observe the cranial nerves around the brain stem if patients show symptoms of congenital myopathy or congenital myotonic dystrophy as well as facial nerve and other cranial nerve paralyses.

Brain Stem↗
PubMed2006

Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy.

We report here a case of a 20-year-old woman with facioscapulohumeral muscular dystrophy (FSHD). In this patient, the involvement of facial muscle had been present since early childhood, but obscured due to the complication of profound mental retardation. Epilepsy emerged at eight years of age. Symmetrical limb muscle weakness appeared at 15 years of age, which progressed such that she was wheelchair-bound at 18 years of age. An elevated serum creatine kinase, predominant involvement of hamstrings, scapular and abdominal muscles, as well as an impaired stapedial reflex at high tune, were compatible with the clinical features of FSHD. The diagnosis of 4q35-FSHD was confirmed by detection of a 10kb EcoRI fragment with a p13E-11 probe on a Southern blot. The intellectual disability in this patient was the most severe of all FSHD patients reported to date and has hindered a correct diagnosis. This entity should be included in the differential diagnoses for patients with muscular symptoms and accompanying mental retardation.

Adult↗
PubMed2006

[Pleural effusion associated with long-term dantrolene administration in three patients with severe motor and intellectual disabilities].

Chronic unilateral pleural effusion developed in three patients with severe motor and intellectual disabilities. All patients received 5-15 years of dantrolene administration for their spasticity. The cause of pleural effusion was indistinct, despite close investigations for etiologies such as infection or tumor. The pleural fluid consisted of sterile exudate in all patients. One patient had eosinophilia in his pleural fluid, while peripheral blood eosinophilia was seen in the other two. The pleural biopsy and autopsy specimens revealed only non-specific inflammatory findings. After dantrolene therapy was discontinued, pleural effusion almost disappeared in two patients in the following several months, but the other died of multi-organ failure from another underlying disease. It is important to take chemical pleurisy into consideration when dealing with pleural effusion of unknown etiology. Moreover, respiratory side effect should be examined in patients treated with chronic dantrolene administration.

Adult↗
PubMed2006

[Two boys with non-progressive unilateral atrophy of the calf muscles].

We report here two boys who presented with atrophy of the right calf muscle. The onset was insidious and the symptom was found in infancy in case 2. They were followed for more than 5 years and no progression was seen. No sensory disturbances or autonomic nervous system symptoms were observed. Although needle electric myograph and muscle biopsy findings showed a neurogenic pattern, no cause was confirmed. Recently, a new disease concept of "benign monomelic amyotrophy of lower limb" was established and this could be applied to these patients. This disorder is rare and it is seen in young adults. It is characterized by non-progressive unilateral calf muscle atrophy. There is almost no possibility that this disorder is a variant of spinal muscular atrophy. When a patient presents with unilateral calf muscle atrophy, the treatable causes of the atrophy, including spinal cord disorders or peripheral nerve disorders, should be excluded first. If a confirmed cause cannot be found, then there should be a careful follow-up of the patient, even if the symptoms are stable.

Adolescent↗
PubMed2005

Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs.

This investigation addressed the effect of germanium dioxide (GeO(2))-induced mitochondrial dysfunction on hearing acuity. Guinea pigs were fed chow that contained 0%, 0.15%, or 0.5% GeO(2). The animals that were fed 0.5% GeO(2) for 2 months developed hearing impairment chiefly due to degeneration of stria vascularis and cochlear supporting cells, which exhibited electron-dense mitochondrial inclusions. Cytochrome c oxidase activity was decreased in the skeletal muscles and kidney, which also exhibited electron-dense mitochondrial inclusions. No apparent pathological changes were observed in the utricle, semicircular canal, or among the vestibular nerve fibers, or in the liver or heart. The untreated animals and those treated with 0.15% GeO(2) did not exhibit hearing impairment or pathological changes in any organs. These findings suggest that administration of 0.5% GeO(2) induces mitochondrial dysfunction in the stria vascularis and supporting cells in the cochlea, as in the skeletal muscles and kidney, thereby causing hearing impairment in the guinea pigs.

Animals↗
PubMed2003

A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy.

We report a male patient with Leber's hereditary optic neuropathy (LHON) and hypertrophic cardiomyopathy. Besides a G11778A mutation in the ND4 gene of the mitochondrial DNA (mtDNA), one of the most common mutations in LHON patients, sequencing of total mtDNA revealed a G12192A mutation in the tRNA (His) gene that was recently noted to be a risk factor for cardiomyopathy. Because no case of LHON presenting with cardiomyopathy has been reported, the present finding suggests that the G12192A mutation caused cardiomyopathy as an additional symptom. In the present case, the double pathogenic mtDNA mutations may be associated either synergistically or concomitantly with two different clinical manifestations.

Cardiomyopathies↗
PubMed2003

A novel mtDNA C11777A mutation in Leigh syndrome.

A novel mitochondrial DNA point mutation, a C-to-A mutation at nucleotide position (np) 11,777, was identified in two unrelated patients out of 100 with Leigh syndrome. This mutation converted a highly evolutionary conserved arginine to a serine at codon 340 in ND4 gene. This codon was also converted by a G-to-A mutation at np 11,778, the most common mutation associated with Leber's hereditary optic neuropathy (LHON), but the amino acid replacement was different (R340S vs. R340H). Cybrid study revealed that the percentage of heteroplasmy was correlated with complex I function and that the novel mutation caused a much more deleterious effect than the np 11,778 LHON mutation in complex I activity.

Journal Article↗
PubMed2002

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

Autosomal dominant progressive external ophthalmoplegia is a mitochondrial disorder characterized by multiple large deletions of mitochondrial DNA. A recent study showed pathogenic heterozygous missense mutations in the heart/skeletal muscle isoform of the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients. In one Japanese autosomal dominant progressive external ophthalmoplegia family, we found a novel A-to-G heterozygous mutation at nucleotide 311 of the adenine nucleotide translocator 1 gene, which segregated with affected individuals and could not be detected in the genomic DNA sequence of 120 normal controls. This mutation converted a highly conserved aspartic acid into a glycine at codon 104. Polymerase chain reaction analysis of single muscle fibers showed the presence of one type of deletion in each fiber, suggesting clonal expansion of mitochondrial DNA with deletions. These findings support the pathogenesis of the adenine nucleotide translocator 1 gene mutation in human disease.

Adult↗
PubMed2002

Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy.

A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.

Child, Preschool↗