ESPE Abstracts

Introduction: Hypophosphatasia is a rare genetic disorder characterized by impaired mineralization (“calcification”) of bones and teeth. However, there is variable presentation from asymptomatic to severe presentation.

Case: Seven-Year-old boy presented at age of 2 weeks with excessive crying. On evaluation he was found to have low Alkaline Phosphatase (ALP) level. The parents are consanguineous with negative family history of similar presentation. The clinical examination was not significant. He was evaluated by multidisciplinary team for the excessive crying and everything else was negative. The baby was admitted for observation for one week, improved and discharged home. As he has persisted low ALP, he had Whole Exome Sequencing (WES) which reported as homozygous mutation in the ALPL gene, suggesting of autosomal recessive hypophosphatasia. During first 3 years of live he had frequent viral illnesses (gastrointestinal and respiratory), 2-3 admissions per year. However, no admission in last 2 years. He didn’t show any manifestation of the disease. The growth parameters and development are normal for age. He has no history of fracture and has normal dentition. The ALP for parents was low mother 38[iU/l], father 58 [iU/L]. The genetic test confirm that heterozygous state of parents. The serial biochemical profile is listed in Table 1. below throughout the years of follow up. The normal range of ALP for age and sex is listed in Table 2.

Conclusion: Hypophosphatasia is very rare disease with heterogenous in presentation. Following up such cases is important as more clinical features will appear as child grown up.