Diagnosis of Hypophosphatasia

Objective: HPP (Hypophosphatasia) is a congenital disease characterized by a deficiency of tissue-specific ALP (alkaline phosphatase), which causes the generation of abnormal bone and tooth tissue. The clinical manifestations are variable, from neonatal forms with high mortality to milder adult forms with fractures and osteomalacia. The present study reports a clinical case of HPP, with emphasis on the physical characteristics and laboratory tests. The patient was attended at the medical genetics outpatient clinic of the Association of Parents and Friends of the Exceptional of Manaus (Associação de Pais e Amigos dos Excepcionais-APAE/Manaus). Methodology: For the case report, anamnesis, peripheral blood G-band karyotyping, Vitamin and ALP dosage and resonance examination were performed. Results: A.M.M.S, 9 years, non-consanguineous parents, no bone disease in the family, with one sister from the mother. Birth weight AGA without intercurrence. The patient presented a slight delay in psycho-motor development and was diagnosed with craniostenosis through CNS imaging examination. The physical examination, in addition to a short stature, showed dolichocephaly, frontal bossing, curved tibias and great dental compromise with many early cavities and loss of teeth. Laboratory evaluation: ALP dosage: 63/L (N = 69-325); Vitamin B6 dosage: 27.4 (5.2-34.1). The mother and the younger sister also had an ALP result below that expected for the age. Conclusions: The clinical phenotype and laboratory diagnosis of the patient were compatible with ICD Q78 HPP.