Severe scoliosis in a Colombian patient with childhood hypophosphatasia
Case report, 364 - 367Tag this article
Hypophosphatasia (HPP) is a rare inherited disorder of bone and mineral metabolism. In this report, we describe the clinical manifestations and the molecular analysis of a Colombian patient with childhood HPP. In this patient, a homozygous c.892G>A (p.E298K) mutation was detected in the ALPL gene. At 7 years of age, the right thoracic curve measured 30°, which progressed to 40° by the age of 9 years. To our knowledge, only few cases of scoliosis have been reported in HPP. Given this association, we suggest to consider the diagnosis of HPP in all patients with idiopathic infantile scoliosis of rapid progression.
KEY WORDS: case report; hypophosphatasia; scoliosis; Latin America.