Skip to main content

Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment

Buy Article:

$51.00 plus tax (Refund Policy)



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.

Keywords: Calcium; Growth failure; Hypophosphatasia; Vitamin D; Widened anterior fontanelle

Document Type: Research Article


Affiliations: 1: Department of Paediatrics, University Hospital of Chieti, Chieti, Italy 2: Laboratoire SESEP, Centre Hospitalier de Versailles, Le Chesnay, France

Publication date: July 1, 2011


Access Key

Free Content
Free content
New Content
New content
Open Access Content
Open access content
Subscribed Content
Subscribed content
Free Trial Content
Free trial content
Cookie Policy
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more