[P1-174] A case of Krabbe disease associated with hydrocephalus
We present the case of a female patient with Krabbe disease associated with communicating hydrocephalus. The female patient was born at 39 weeks of gestation via normal vaginal delivery following an uneventful pregnancy. Her parents were not consanguineous and there was no family history of Krabbe disease. She developed normally for the first 3 months. However, from 4 months of age, she became significantly irritable. At 6 months of age, she developed seizures and was admitted to our hospital. Magnetic resonance imaging (MRI) showed dilatation of the lateral, third, and fourth ventricles and hyperintense periventricular lesions on T2-weighted images. High intensity lesions on T2-weighted image were also seen in the deep white matter of the cerebellum. Cerebrospinal fluid protein levels were elevated and a nerve conduction study showed increased latency. Galactocerebrosidase enzymatic activity was significantly low and molecular analysis revealed compound heterozygous mutations of the galactosylceramidase gene (GALC). Based on these findings, she was diagnosed with Krabbe disease associated with communicating hydrocephalus. To treat the communicating hydrocephalus, a ventriculoperitoneal shunt was placed. However, the shunt was removed because of recurrent infections. Because she had already had symptoms of the disease before diagnosis, bone-marrow transplantation was not indicated. Krabbe disease is rarely associated with communicating hydrocephalus. The initial symptoms and cerebral MRI findings of Krabbe disease associated with hydrocephalus and those associated with hydrocephalus alone are similar. However, hyperintense cerebellar regions on T2-weighted images are specific for Krabbe disease and allow it to be distinguished from hydrocephalus.