Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation.

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G>A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.

Here we report two cases of isolated diffuse mesangial sclerosis (IDMS) with early onset end-stage renal failure. These female patients did not show abnormalities of the gonads or external genitalia. Direct sequencing of WT1 PCR products from genomic DNA identified WT1 mutations in exons 8 (366 Arg>His) and 9 (396 Asp>Tyr). These mutations have been reported previously in association with Denys-Drash syndrome (DDS) with early onset renal failure. Therefore we suggest that, at least in part, IDMS is a variant of DDS and that investigations for the WT1 mutations should be performed in IDMS patients. In cases with identified WT1 mutations, the same attention to tumor development should be required as in DDS patients, and karyotyping and serial abdominal ultrasonograms to evaluate the gonads and kidney are warranted.

Corneal endothelial changes as a clinical diagnostic indicator of dentatorubropallidoluysian atrophy.

OBJECTIVE: To present a rare case of patient diagnosed with dentatorubropallidoluysian atrophy (DRPLA) accompanied by corneal endothelial cell loss. METHODS: A 37-year-old man with choreoathetoid movement and cerebellar ataxia was diagnosed with DRPLA based on a DNA analysis compared with that of healthy control subjects. We examined the best corrected visual acuity, color vision, light reflex, topography, corneal thickness, fundus, fluorescein angiograpic findings, the visual field, ERG, specular microscopy as well as MRI and serologic tests. RESULTS: The best corrected visual acuity was 20/20 in both eyes by Snellen chart, and the other ocular findings were within normal limits except for a significantly decreased corneal endothelial cell density, 876 cells/mm in the right eye and 941 cells/mm in the left eye. CONCLUSIONS: A patient with neurodegenerative disorders such as choreathetoid movement, myoclonic seizure, cerebellar ataxia, and dementia should be examined specifically by specular microscopy because corneal endothelial cell loss is the only clinical diagnostic indicator of DRPLA.