A case in the spectrum of the oculo-encephalo-hepato-renal syndrome

An 18-year-old male is presented with unprecedented central nervous system findings (cerebral dysplasia and sacral meningocele) possibly in the spectrum of the oculo-encephalo-hepato-renal syndrome. He had severe mental retardation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failure. Magnetic resonance imaging demonstrated cerebral dysplasia (left dominant abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brainstem. A sacral meningocele was observed first at 16 years of age. His renal function gradually worsened after 11 years of age. His liver function was normal. The previously reported 72 cases with the oculo-encephalo-hepato-renal syndrome are reviewed.