Pak J Med Sci 2007 Vol. 23 No. 4 www.pjms.com.pk 643 Case Repor t ALPERS DISEASE: REPORT OF TWO FAMILIAL CASES M. Bar zegar 1 , Mazyar Hashemilar 2 ABSTRACT Alpers syndrome is usually characterized by a clinical triad of psychomotor retardation, intractable epilepsy and liver failure in infants and young children. It is a hereditary disease with an autosomal recessive pattern of inheritance. Definitive diagnosis is shown by postmortem examination of the brain and liver. There is no known treatment. In this article two familial cases are reported. KEY WORDS: Alpers syndrome, Neuronal degeneration, Liver disease, Progressive cerebral poliodystrophy. Pak J Med Sci July - September 2007 Vol. 23 No. 4 643-646 1. M. Barzegar, Associate Professor of Pediatric Neurology, Tabriz Children’s Hospital, 2. Mazyar Hashemilar, Assistant Professor of Neurology, 1-2: Tabriz University of Medical Sciences, Tabriz – Iran. Correspondence Mazyar Hashemilar, Razi Hospital, El Goli Road, Tabriz – Iran. E-mail: mhashemilar@yahoo.com * Received for Publication: March 19, 2007 * Revision Received: March 24, 2007 * Accepted: June 5, 2007 INTRODUCTION Alpers disease, a syndrome of unknown etiology, represents a group of disorders char- acterized by a rapidly progressive encephal- opathy with intractable seizures and diffuses neuronal degeneration. In most of patients liver involvement is present and an autosomal re- cessive pattern of transmission is suggested. A diagnosis of Alpers disease should be made only in the absence of known metabolic dis- ease or an antecedent event. Along with clini- cal features suggestive of Alpers disease, neuroimaging should exclude other diagnos- tic possibilities and should show progressive brain atrophy on successive studies, with rela- tive sparing of the white matter. Seizure types include myoclonic, focal, and generalized tonic clonic convulsions. Treatment is supportive and prognosis is poor. CASE REPORT An eighteen months old boy was admitted to our centre due to progressive psychomotor deterioration, hypotonia and seizures since seven months ago. He has been healthy up to eleven months old, with normal developmen- tal milestones and beginning to walk with help. His mother and father had a far familial rela- tionship and did not have any neurologic prob- lem. They have two healthy children, a fifteen years old daughter and a three years old son. Their second child, a girl had died when four- teen moths old, following a three months pe- riod of illness. Her disease had begun with sei- zures. A refractory status epilepticus had oc- curred during the course of her disease which was controlled by sodium valproate. After- wards she had become flaccid, had repeated vomiting bouts and become jaundiced. Valproic acid has been stopped following results of liver enzyme assays which showed significant elevation. Her progressive mental deterioration, followed by generalized myoclonic status and flaccidity. She had died following aspiration pneumonia three months after onset of illness. A brain CT scanning had shown cerebral atrophy.