A Forensic Autopsy Case of Lissencephaly for Evaluating the Possibility of Child Abuse

Korean J Leg Med 2013;37:84-89. English.

Department of Legal Medicine, College of Medicine, Korea University, Seoul, Korea

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

Department of Forensic Medicine, National Institute of Scientific Investigation, Seoul, Korea, sjsme@korea.kr

A 9-year-old Korean boy with lissencephaly was found dead at home. He had previously been diagnosed with lissencephaly that presented with infantile spasm on the basis of magnetic resonance imaging and electroencephalogram results. Antemortem chromosomal banding revealed a normal karyotype. A legal autopsy was requested to eliminate the possibility of neglect or abuse by his parents. The autopsy findings revealed type I lissencephaly with the associated microcephaly. No external wounds or decubitus ulcers were noted. Postmortem fluorescence in situ hybridization for the LIS1 locus and nucleotide sequence analysis of the whole coding regions of the LIS1 gene did not reveal any deletions. The antemortem and postmortem findings revealed that lissencephaly syndrome was associated with isolated lissencephaly sequence. External causes of death were excluded by the full autopsy and toxicology test results. Because patients with mental retardation are frequently victimized and suffer neglect or abuse, thorough external and internal examinations should be conducted at the time of autopsy.

Key Words : Lissencephaly, Child neglect, Child abuse, Forensic pathology, Autopsy

Case report