Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs. We performed a genetic study that confirmed the diagnosis and revealed a c.436delC mutation of the C2orf37 gene. Therefore, WSS is an important consideration in patients presenting with movement disorders and intellectual disability. A high consanguinity contributes to the clustering of such rare autosomal recessive syndromes.

[Foot and diabetic neuropathy: about 205 cases]. / Pied et neuropathie diabetique: a propos de 205 cas.

Diabetic neuropathy is a serious and disabling complication of diabetes mellitus. It occurs in all types and at any moment of the evolution of diabetes. It can be worsened by arteriopathy or an associated cutaneous infection. Our study is about 205 diabetic patients with a peripheral neuropathy. In 27 patients (14% of cases) there are also trophic disorders: callus in zones of support (17 cases), mal perforant (6 cases) and burns (5 cases). Arteritis of the lower limbs was present in 50 % of cases. The authors discuss the physiopathology and management of diabetic neuropathy.