Mueen Mohyud Din, Ghazanfar Ali Sheikh, Attia Tul Qudus, Shamaila Iqbal.
Perinatal form of Hypophosphatasia.
Pak Paed J Jan ;27(4):178-80.

A baby boy was delivered by elective repeat C-section. This baby weighed 3.3 Kg at birth and had APGAR score of one at one minute and seven at five minutes. Following delivery, he was intubated in operation room and positive pressure ventilation given. On transfer to NICU he was put on mechanical ventilation. He was a healthy looking baby with good spontaneous activity. No dysmorphic features were present. There was good bilateral air entry. He was maintaining Oxygen saturation Of more than 90 with FiO2 Of 0.40 and had no significant CO2 retention. CVS examination was normal. Liver was 3 cm and spleen 2 cm below the costal margins while being ventilated. Sucking, rooting, swallowing and Other basic neonatal reflexes were normal. He had bilateral symmetrical movements with slightly decreased muscle power. His initial chest X-ray had poorly expanded lungs that showed improvement on subsequent films. Ribs and other bones were noted to be incompletely Ossified and were variously reported to be as Osteogenesis Imperfecta or bony dysplasia with no specific diagnosis. Other workup was normal. His LFTs showed alkaline phosphatase level Of 11 U/L. Repeat alkaline phosphatase level was 17 U/L and a diagnosis Of hypophosphatasia was suspected.

PakMediNet -Pakistan's largest Database of Pakistani Medical Journals - http://www.pakmedinet.com