L-2 hydroxyglutaric aciduria (L-2-HGA) is an autosomal recessive organic acid metabolic disorder characterized by seizures, cerebellar ataxia, and intellectual disability. Although many cases have been reported worldwide, only four adult cases have been reported in Japan. Herein, we present a case of a 10-year-old girl with seizures, intellectual disability, and ataxic gait. Brain MRI showed high signal intensity on T2-weighted images and low signal intensity on T1-weighted images in the subcortical white matter predominantly in the bilateral frontal lobes, as well as similar abnormal signal areas in the bilateral globus pallidus and the dentate nucleus. Urine organic acid analysis revealed elevated 2-hydroxyglutarate. Complex heterozygous mutations of NM_024884.3 : c.829C>T (p.Arg277^*) and c. 187 T>C (p.Ser63Pro) were found in L2HGDH gene analysis, providing a diagnosis of L-2-HGA. The patient was treated with flavin adenine dinucleotide, but there was no improvement in the extent of the lesions on MRI, while spasticity of the lower limbs and intentional tremor progressed. The distribution of brain lesions observed by MRI in L-2-HGA patients is very characteristic and helpful for diagnosis of L-2-HGA. Suspecting L-2-HGA from MRI findings is important for early diagnosis.

  Subcutaneous immunoglobulin is now available to suppress the progression of hypokinesia in chronic inflammatory demyelinating polyneuritis. In the present case, although intravenous immunoglobulin, which was effective at the time of recurrence, caused aseptic meningitis, subcutaneous immunoglobulin was safely used instead in this case. For this intractable disease, it is necessary to consider subcutaneous immunoglobulin as a treatment option at home to prevent relapse.

  This pilot study examined the effects of bright light therapy (BLT) on children with circadian rhythm sleep-wake disorder associated with school refusal. Study participants were 12 children (age : 13-15 years). They were randomly divided into two groups based on the therapy they underwent for 3 weeks : inpatient therapy alone (IT) and IT plus BLT (plus BLT) groups. Two participants dropped out of the study. The wake-up time regressed/relapsed 2 weeks after discharge in the IT group (5 patients) but was maintained in the plus BLT group (5 patients). Moreover, the plus BLT group showed significantly lower insomnia severity questionnaire scores. These results suggest that BLT is effective for children.