Very-Low-Dose Levodopa Therapy for Pediatric Neurological Disorders: A Preliminary Questionnaire in Japan.

Post-synaptic dopamine receptor supersensitivity (DARSS) has been extensively researched by Dr. Masaya Segawa, who has investigated the efficacy of very-low-dose levodopa therapy (VLDT; 0.5-1 mg/kg/day).

Cyclosporine for acute encephalopathy with biphasic seizures and late reduced diffusion.

Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common syndrome among the acute encephalopathies, and is associated with a high incidence of neurologic sequelae. This study examined the efficacy of cyclosporine (CsA) for the treatment of AESD.

Methods: Fourteen children with AESD were recruited and categorized as group A (not receiving CsA) and group B (receiving CsA).

Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation.

A 26-year-old woman with psychomotor developmental delay since late infancy showed rapid deterioration of her psychomotor abilities at the 11 years of age. She had gained the ability to verbally express herself and perform motor activities such as running and dancing in early childhood, but she lost the ability to verbally communicate and was unable to walk independently after this period. She also presented with dystonia in the right extremities, which markedly fluctuated with a periodicity of hours to months.

Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.

Mutations in the gap junction protein gamma-2 gene, GJC2, cause a central hypomyelinating disorder; Pelizaeus-Merzbacher-like disease (PMLD; MIM311601). Using a homozygosity mapping and positional candidate gene approach, we identified a homozygous mutation (c.-167A>G) within the GJC2 promoter at a potent SOX10 binding site in a patient with mild PMLD.

[Care continuity for migraine in children and adolescents].

The prevalence of migraine in the junior high school children in Japan has been reported as 4.8% (male, 3.3%; female, 6.

Rasmussen syndrome combined with IgA deficiency and membranous nephropathy.

A 9-year-old boy diagnosed as having Rasmussen syndrome had congenital IgA deficiency and juvenile alopecia. He developed auditory hallucination and consciousness disturbance with intractable complex partial epileptic status. Anti-glutamate receptor epsilon2 antibodies were detected in his serum and cerebrospinal fluid.

A case of chronic recurrent cerebellar ataxia responding to steroid therapy.

We present a 25-month-old female having unusual cerebellar ataxia responsive to steroid therapy. She had suddenly suffered from action tremor and trunkal ataxia, following antecedent mild respiratory infection. These symptoms lasted for a month, and therefore she was referred to our hospital.

[Preliminary trial of botulinum toxin A therapy for lower extremity spasticity in children with cerebral palsy].

Eleven children with gait disturbance due to cerebral palsy (mean age, 5.6 years, ranging from 2.4 to 11.

Norovirus-associated encephalopathy.

Norovirus is a common cause of gastroenteritis. We describe the case of a 23-month-old girl with encephalopathy possibly associated with norovirus infection. The viral genome was detected in stool, serum and cerebrospinal fluid (CSF) by reverse transcription polymerase chain reaction.

Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review.

We present a 10-year-old female diagnosed having hereditary neuropathy with liability to pressure palsies (HNPP). She had suffered from acute, recurrent monoplegic episodes affecting both the sciatic nerves and the left brachial plexus since the age of 7 years. The paresis seemed to be triggered by hiking and athletic training.

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Charcot-Marie-Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35-p36 and mutation in the kinesin family member 1B-beta (KIF1B) gene had been reported in one pedigree.

Latent cerebral hypoperfusion in a boy with persistent nephrotic syndrome.

Pediatricians are often faced with both bad temper and decreased daily activity in children with persistent nephrotic syndrome. These problems, which might affect both mental and physical development, have been explained as a consequence of general fatigue due to systemic edema and/or long-term hospitalization. However, other factors, such as cerebral hypoperfusion, may be involved.

[A case of Friedreich's ataxia having no abnormal gene].

We report here a 25-year-old girl with Friedreich's ataxia (FA) who showed slowly progressive ataxia, deep sensory disturbance and loss of large myelinated fiber in the sural nerve. There was no evidence of cerebellar atrophy or abnormal values of vitamin E, albumin, CK, and gamma-globulin in the serum. Except for mild mental retardation, her clinical and laboratory findings were consistent with those of FA.

Acute disseminated encephalomyelitis and poststreptococcal acute glomerulonephritis.

We experienced the case of a boy suffering from acute disseminated encephalomyelitis and concomitant acute glomerulonephritis. The multiple lesions observed on MR images, which located mainly in the cortical gray matter, quickly responded to methyl prednisolone pulse therapy. Renal biopsy confirmed the diagnosis of poststreptococcal acute glomerulonephritis.