Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome / 대한소아소화기영양학회지

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

Surgical Treatment of Posterosuperior Hip Dislocation in A Patient with Hereditary Sensory Autonomic Neuropathy Type IV: A Case Report

A 4-year old female patient with a diagnosis of hereditary sensory autonomic neuropathy type IV (congenital insensitivity to pain with anhidrosis) since the age of 1 year, sustained a posterior hip dislocation. During her initial stay at the hospital, an attempt at manual reduction failed. Open reduction, capsulorrhaphy, and Salter operation were done at 36 days after the index dislocation. After the operation there was a 23-degree acetabular index, and there were several abnormal round whitish gray fibrous nodules. There was also severe wound discharge, skin abrasion, and erythema on the patient's back and buttocks due to loss of protective sensation. After conservatively treating the wound and skin problems with prone positioning, we achieved a final acetabular index of 26 degrees. The patient did not have protective sensation in her hip joint. We were able to check for increasing instability after the index operation.