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 spectr um of the oculo-encephalo-hepato-renal syndrome. He had severe mental retar dation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failur e. Magnetic resonance imaging demonstrated cerebral dysplasia (left dominan t abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brain stem. 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-re nal syndrome are reviewed. (C) 1999 by Elsevier Science Inc. All rights res erved.