Sanfilippo type C syndrome in two sisters.
Two sisters are described with mucopolysaccharidosis (MPS) Sanfilippo type C syndrome. This diagnosis is emphasized to be easily overlooked due to subtile clinical and radiological deviations, but should be considered in any case of unspecific progressive mental retardation, especially when sleep disturbance, aggressivity and hyperactivity are prominent symptoms.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D009083:Mucopolysaccharidoses / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis / Q000235:genetics*