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We report two brothers with microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis. The elderbrother showed nephrotic syndrome from 2 years of age and died of renal failure at 8 years of age. The younger brother showed mild proteinuria from 2 years of age, and his renal function was still preserved at 15 years of age. We propose that our patients may be affected with a mild form of Galloway-Mowat syndrome or another autosomal recessive syndrome with focal segmental glomerulosclerosis and central nervous system abnormalities.

We report a 19-month-old boy with Menkes' syndrome that was complicated by a progressive sliding hiatal hernia. He presented with convulsions, developmental delay, elongation and tortuosity of major cerebral arteries, and diverticulae of the bladder at 4 months of age. Based on the diagnosis of Menkes' syndrome, treatment with intravenous or subcutaneous copper-histidine administration was initiated at 6 months of age. At 13 months of age, he vomited frequently owing to sliding hiatal hernia, which progressed rapidly and required surgical treatment. Connective tissue abnormalities are characteristic complications of Menkes' syndrome. Sliding hiatal hernia is probably one of the connective tissue manifestations and should be carefully evaluated in patients with Menkes' syndrome demonstrating recurrent gastrointestinal and/or respiratory symptoms.

A Japanese boy developed febrile seizures and gait disturbance at 2 years of age and dysarthria a year later. He had generalized tonic-clonic seizures once or twice a year from the age of 4 years. Brain computed tomography (CT) showed symmetric low-density areas in the white matter of the frontal lobes. However, abnormal CT findings fluctuated occasionally, with no apparent change in clinical manifestations. Clinical evaluation at 9 years of age revealed hyper-reflexia, psychomotor retardation, megalencephaly, and slurred nasal speech. Magnetic resonance imaging showed white matter abnormalities, predominantly in the frontal lobes. He was a heterozygote of the Arg239Cys mutation of the glial fibrillary acidic protein gene and was diagnosed with Alexander's disease. Fluctuation of CT findings in white matter may reflect blood-brain barrier dysfunction in Alexander's disease.