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Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment
Author(s) -
Mohn Angelika,
De Leonibus Chiara,
de Giorgis Tommaso,
Mornet Etienne,
Chiarelli Francesco
Publication year - 2011
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2011.02228.x
Subject(s) - hypophosphatasia , medicine , anterior fontanelle , fontanelle , pediatrics , surgery , alkaline phosphatase , hydrocephalus , biochemistry , enzyme , chemistry
Hypophosphatasia is characterized by deficiency of serum alkaline phosphatase with defective bone and teeth mineralization. We report on an 11‐month‐old boy who developed a complex clinical picture characterized by bulging anterior fontanelle, growth failure, nephrocalcinosis and impaired bone mineralization during high‐dose calcium and vitamin D supplementation. This therapy had been started 5 months earlier for a presumed diagnosis of nutritional rickets established on the grounds of isolated widened anterior fontanelle. However, laboratory investigations revealed reduced alkaline phosphatase levels associated with hypercalcemia, hypercalciuria, low PTH and normal 25‐hydroxy vitamin D levels. Genetic testing detected a compound heterozygote for the novel mutation (c.262G>A) and the described mutation (c.920C>T) in the ALPL gene. Conclusion: High calcium and vitamin D supplementation should not be started in the presence of isolated signs of nutritional rickets without assessing calcium‐phosphate metabolism. In fact, in rare bone‐mineralizing disorders, this combined therapy might induce severe clinical complications.