Distal myopathy with rimmed vacuoles in a case of opercular syndrome.

We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c.

[Juvenile myoclonic epilepsy misdiagnosed as focal epilepsy: variability of myoclonic seizures].

We report two male patients with juvenile myoclonic epilepsy. They had been diagnosed as having partial epilepsy for three years. They had various myoclonic seizures characterized by truncal and head torsion, stepping backward, and inability to reach objects, as well as asymmetric myoclonic jerks of the upper extremities.

Hemiconvulsion-hemiplegia syndrome and elevated interleukin-6: case report.

We report a 2-year-old boy who developed hemiconvulsion-hemiplegia syndrome with left-sided hemiplegia after a seizure lasting 35 minutes. The interleukin-6 level in the cerebrospinal fluid 2 hours after seizure onset was elevated to levels seen in patients with encephalitis. At 1 year after onset of the seizure, the patient remained hemiplegic on the left side, and magnetic resonance imaging showed severe right hemispheric atrophy.

Molecular study of electron transfer flavoprotein alpha-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II.

Background: Electron transfer flavoprotein is a mitochondrial matrix protein composed of alpha- and beta-subunits (ETF alpha and ETF beta, respectively). This protein transfers electrons between several mitochondrial dehydrogenases and the main respiratory chain via ETF dehydrogenase (ETF-DH). Defects in ETF or ETF-DH cause glutaric acidemias type II (GAII).

Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.

Background: Distal myopathy with rimmed vacuoles (DMRV) is an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles. The disease locus has been mapped to chromosome 9p1-q1, the same region as the hereditary inclusion body myopathy (HIBM) locus. HIBM was originally described as rimmed vacuole myopathy sparing the quadriceps; therefore, the two diseases have been suspected to be allelic.

A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation.

A girl with partial trisomy 5q35qter and partial trisomy 13pterq31 shows a less severe clinical course.

Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is clinically classified into severe, intermediate, and myopathic forms. We identified mutations in three unrelated Japanese patients with VLCAD deficiency: two with the myopathic form and one with the intermediate form, all compound heterozygotes of K264E/M437V, A416T/1798delA, and P89S/IVS16-3delAA, respectively. We characterized four missense mutations, K264E, M437V, A416T, and P89S, by transisent expression analysis, using SV40-transformed fibroblasts derived from a VLCAD-null patient, as recipient cells.

Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis.

The molecular basis of double cortex syndrome was investigated in 2 male patients. Magnetic resonance imaging of the patients' heads showed diffuse subcortical band heterotopia, as is seen in female patients. We found a heterozygous mutation for Asp50Lys or Arg39Stop in both patients.

[A case of peculiar type of post-encephalitic/encephalopathic epilepsy: efficacy of bromide in the control of intractable seizures].

A 5-year-old boy with a peculiar type of post-encephalitic/encephalopathic epilepsy is reported. He had been healthy showing normal development before its onset. Five days after the onset of an upper respiratory infection, he had a severe generalized seizure, that evolved into intractable seizures.

[Acute disseminated encephalomyelitis in a 3-month-old infant].

Acute disseminated encephalomyelitis (ADEM) is a demyelinating disease showing multifocal central nervous system lesions due to an autoimmune disorder. We reported a 3-month-old girl with ADEM. One week after having a cold, she presented with somnolence, poor feeding and vomiting.

A variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect.

We report a 17-year-old female patient with a variant form of congenital bilateral perisylvian syndrome (CBPS). She had pseudobulbar palsy, partial epilepsy and mild pyramidal symptoms predominantly in the left hand. Magnetic resonance imaging revealed asymmetric perisylvian and perirolandic polymicrogyric cortical dysplasia and septum pellucidum defect.

[Magnetoencephalographic and electrocorticographic studies on the epileptogenic focus in a patient with Kojewnikow syndrome].

Partial motor seizures occur, followed after a variable interval by well-localized myoclonic jerks, in the patients with Kojewnikow syndrome, or epilepsia partialis continua. However, the epileptogenic focus remains to be established. We studied the epileptogenic focus of a 17-year-old boy with intractable Kojewnikow syndrome.

[Effect of the ketogenic diet for West syndrome into which early infantile epileptic encephalopathy with suppression-burst was evolved].

A male infant with early infantile epileptic encephalopathy (EIEE) was reported. Tonic spasms in series appeared since 1 month after birth and EEG showed a typical suppression-burst pattern. The patient was treated with a high-dose pyridoxal phosphate and thyrotropin-releasing hormone (TRH), but seizures were not controlled.