Sjogren-Larsson syndrome.
A 9-year-old boy with classical features of Sjogren-Larsson syndrome was reported. He had had diffuse dry skin with ichthyotic scales since birth. The skin biopsy was compatible with ichthyosis. At the age of two he was unable to walk normally and also had learning problems. Neurological examination revealed spastic paraparesis, macular degeneration and mild mental retardation. MRI of the brain and spinal cord revealed subcortical white matter and corpus callosal lesions as well as focal cerebral atrophy and diffuse spinal cord atrophy.
Phanthumchinda
K
K
Department of Medicine, Faculty of Medicine Chulalongkorn University, Bangkok, Thailand.
Srimanuthipol
K
K
Yodnophaklao
P
P
D001706:Biopsy; D002648:Child; D005684:Gait; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D010375:Pedigree; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000235:genetics