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[A case of hypophosphatasia in an infant].

Scotta Ms, M D Marzani, Gianluca Abbati, A Panza, C Bailo

Abstract

Hypophosphatasia is a rare familial disease characterized by abnormalities of the skeleton, low serum alkaline phosphatase level and presence of abnormal quantities of phosphorylethanolamine in plasma and urine. The biochemical bases of inadequate calcification of the bone matrix are unknown. We report the case of a 4 month-old infant who presented symptoms of rickets. Laboratory analysis showed normal serum Ca and P levels, low serum alkaline phosphatase activity, PEA level increased in plasma and urine. X-ray examination of the bones disclosed poor mineralization and the presence of focal defects of the skull. The therapeutic problems are discussed.

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Key concepts: Hypophosphatasia, Alkaline phosphatase, Rickets, Calcification, Urine, Internal medicine, Endocrinology, Skeleton (computer programming)