Search results for "Hereditary sensory and autonomic neuropathy"
showing 2 items of 2 documents
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation
2018
Abstract Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Tumorlike swellings of many joints and skeletal signs of Charcot neuropathy developed in adolescence which, together with a history of self-mutilation, led to a clinical suspicion of CIPA confirmed by identification of a novel homozygous variant c.1795G > T in the NTRK1 gene in blood lymphocytes. Both parents were hete…
Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion
1989
We observed three children in a Turkish family who from early childhood had deformations of the feet and torpid ulcers with subfocal osteomyelitis and osteolysis, which subsequently led to amputations. The fingers showed ainhumlike constriction bands and spontaneous amputations. Neurologic studies revealed an almost complete sensory and autonomic loss affecting all modalities and a marked involvement of motor fibers. The clinical symptoms fulfill many of the hallmarks of hereditary sensory and autonomic neuropathy type II, including autosomal recessive inheritance, onset of symptoms in childhood, and mutilating acropathy. A high urinary excretion of sphingomyelin and lecithin suggests that …