Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy.
Rud syndrome consists in the association of oligophrenia and hypogonadism with congenital ichthyosis; in the majority of cases, epilepsy, short stature or delayed in growth are also found. We described a child with such a syndrome. In addition to the classical findings, the patient had retinitis pigmentosa and hypertrophic polyneuropathy. Histological studies, including ultrastructural findings of a sural nerve biopsy, showed signs of a chronic demyelinative neuropathy with onion bulb formation. The world literature was reviewed and only nine other cases fulfilled our criteria for inclusion in Rud syndrome. This case represents the one with the most extensive neurological involvement ever reported.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000175:diagnosis; D006201:Hair Diseases / Q000175:diagnosis; D006801:Humans; D006984:Hypertrophy; D007006:Hypogonadism / Q000175:diagnosis*; D007057:Ichthyosis / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000473:pathology; D012035:Refsum Disease / Q000175:diagnosis; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D012859:Sjogren's Syndrome / Q000175:diagnosis; D013577:Syndrome; D014983:Xeroderma Pigmentosum / Q000175:diagnosis