[Sjögren-Larsson syndrome. Study of 2 cases].
Two siblings, a 3 1/2 years-old male and a 2 years-old female, with Sjögren-Larsson syndrome (SLS) are described. The SLS is a genetically determined syndrome with autosomal recessive inheritance, characterized by the three main symptoms: congenital laminar ichthyosis, spastic displegia and mental deficiency. Parental consanguinity not was found. Pregnancy and perinatal period of the two children was normal. Ichthyosis was found at birth. Spastic displegia was noted before the age of one year and mental retardation was suspected at the same time. The EEG is abnormal. Glistening dots in the optic fundus were not observed. Diagnostic features of this rare syndrome are reported.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis; D010264:Paraplegia / Q000235:genetics*; D013577:Syndrome
Síndrome de Sjögren-Larsson. Estudio de dos casos.