Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

• DOI: 10.4274/jcrpe.galenos.2019.2018.0263
• Publication Date: 2019-03-29T11:13:52Z
• Authors: Roger Esmel-Vilomara; Susana Hernández; Ariadna Campos-Ma...; Eva González-Roca; Diego Yeste; Félix Castillo
• Keywords: Hypophosphatasia; Failure to Thrive; Rare disease

Hypophosphatasia, a rare genetic disease affecting bone metabolism, is characterized by decreased activity of tissue non-specific alkaline phosphatase (TNAP). The gene encoding TNAP (ALPL) has considerable allelic heterogeneity, which could explain different degrees enzyme resulting in wide clinical variability. We report the case preterm newborn whom corneal opacity was detected at birth. Blood tests performed to investigate this finding showed low concentrations. disappeared within week but remained persistently low. With levels phosphatase, upon suspicion hypophosphatasia, plain radiography changes suggestive rickets. Sequencing ALPL revealed heterozygous variant that not been described literature date. Our patient’s condition may be an atypical neonatal form syndrome, with mild phenotype, very from classic form, can lead severe skeletal and respiratory failure. However, it also early diagnosis childhood associated better prognosis.