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Case ReportOpen Access
Hypophosphatasia : The Importance of Alkaline Phosphatase in Bone Mineralization
Jaruratanasirikul S 
,
Chanvitan P
,
Chanvitan P The authors describe a neonate who was diagnosed with "perinatal hypophosphatasia". The
clinical manifestations in this patient were small head size, soft calvarium (caput membranaceum).
and short bowing forearms and legs. Laboratory investigations revealed hypercalcemia at 12.7
mg/dl, hyperphosphatemia 8.6 mg/dl, and extremely low alkaline phosphatase 0 unit/L. Roentgenographic
studies of the skull showed calcification only at frontal bone and base of the skull. Spines
were small and flattened. Long bones were hypomineralized and deformed. The functions of alkaline
phosphatase to bone development and mineralization were reviewed. Because perinatal hypophosphatasia
is a fatal condition and inherited as an autosomal recessive pattern, prenatal diagnosis is
necessary. The most reliable and suitable method in our facility is serial ultrasonography
from which the diagnosis can be made by the second trimester.
Key word : Alkaline Phosphatase, Bone Mineralization, Hypercalcemia, Hypophosphatasia
clinical manifestations in this patient were small head size, soft calvarium (caput membranaceum).
and short bowing forearms and legs. Laboratory investigations revealed hypercalcemia at 12.7
mg/dl, hyperphosphatemia 8.6 mg/dl, and extremely low alkaline phosphatase 0 unit/L. Roentgenographic
studies of the skull showed calcification only at frontal bone and base of the skull. Spines
were small and flattened. Long bones were hypomineralized and deformed. The functions of alkaline
phosphatase to bone development and mineralization were reviewed. Because perinatal hypophosphatasia
is a fatal condition and inherited as an autosomal recessive pattern, prenatal diagnosis is
necessary. The most reliable and suitable method in our facility is serial ultrasonography
from which the diagnosis can be made by the second trimester.
Key word : Alkaline Phosphatase, Bone Mineralization, Hypercalcemia, Hypophosphatasia
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