Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency.

We report a 3-month-old male with infantile hypophosphatasia who later developed Pseudotumor cerebri. At the age of 3 months, he was referred to our hospital because of pneumonia and respiratory insufficiency. He had short extremities, and radiographs of the bones were consistent with lack of metaphyseal mineralization and bowed lower extremities. Vomiting and bulging fontanelle developed 3 months after admission, and CSF opening pressure was notably high at 430 mm/H2O. Hypophosphatasia is a very rare cause of pseudotumor cerebri. This report is the first case where PTC is associated with hypophosphatasia and responded well to corticosteroid therapy.

Primary hypophosphatemic rickets: an uncommon cause of bowed legs

This paper describes a 9-year-old girl with primary hypophossphatemic ricketts, an uncommon cause of bowed legs. A simple screening for patients presenting with bowed legs is suggested and the importance of using age-related standards for comparison of biochemical results is emphasized

Hipofosfatasia: perda precoce de dentes decíduos / Hypophosphatasia: premature loss of deciduous teeth

Hipofosfatasia é uma doença metabólica hereditária, relativamente rara, responsável pela perda prematura de dentes decíduos. Devido à esfoliaçäo precoce dos dentes, freqüentemente é o dentista o primeiro a diagnosticar a doença, especialmente nos casos mais brandos. O diagnóstico pode ser feito a partir de alguns sinais clínicos, como a perda precoce e espontânea de um ou mais dentes anteriores hígidos, ausência de imflamaçäo gengival, alteraçöes radiográficas, tais como perda óssea alveolar, câmaras pulpares amplas, e achados laboratoriais, como o baixo nível de fosfatase alcalina no soro, e a presença de fosfoetanolamina na urina. Dois casos de pacientes com hipofosfotasia säo descritos, um dos quais acompanhado durante 7 anos, permitindo mostrar que a doença é autolimitante, näo afetando a dentiçäo permanente