Perinatal Hypophosphatasia in a Premature Infant
A premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head. Serum alkaline phosphatase was very low on admission. Extensive metaphyseal a...
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2020-04-01
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doaj-502888be9f724f4bb558157b9831a3972020-11-25T03:01:50ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052020-04-011002e139e14710.1055/s-0040-1709512Perinatal Hypophosphatasia in a Premature InfantDeepika Sankaran0Praveen K. Chandrasekharan1Munmun Rawat2Department of Pediatrics, University of California, Davis, Sacramento, CaliforniaDepartment of Pediatrics, University at Buffalo, Buffalo, New YorkDepartment of Pediatrics, University at Buffalo, Buffalo, New YorkA premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head. Serum alkaline phosphatase was very low on admission. Extensive metaphyseal abnormalities, bowing of long bones, and poor ossification of all bones were noted on skeletal survey (radiography). Based on ultrasound evidence of “bowing” and long bone fractures at 26 weeks, amniocentesis was performed that later diagnosed hypophosphatasia by genetic testing while ruling out osteogenesis imperfecta. Although ventilated initially, the infant gradually improved with enzyme replacement therapy (ERT) and was extubated to noninvasive ventilation for 6 weeks. Following clinical deterioration with hypoxic respiratory failure secondary to sepsis at 4 months of age, he succumbed to severe pulmonary hypertension, likely secondary to chronic lung disease and prolonged ventilation. Early diagnosis allowed timely initiation of appropriate therapy. Radiological improvement with the therapy showed promising results in this rare disease. Despite specific novel therapy being available, variability in presentation dictates prognosis in this previously universally fatal condition. The potential unknown effects of ERT on pulmonary vascular remodeling need further investigation.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1709512hypophosphatasiaossificationalkaline phosphatase |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Deepika Sankaran Praveen K. Chandrasekharan Munmun Rawat |
spellingShingle |
Deepika Sankaran Praveen K. Chandrasekharan Munmun Rawat Perinatal Hypophosphatasia in a Premature Infant American Journal of Perinatology Reports hypophosphatasia ossification alkaline phosphatase |
author_facet |
Deepika Sankaran Praveen K. Chandrasekharan Munmun Rawat |
author_sort |
Deepika Sankaran |
title |
Perinatal Hypophosphatasia in a Premature Infant |
title_short |
Perinatal Hypophosphatasia in a Premature Infant |
title_full |
Perinatal Hypophosphatasia in a Premature Infant |
title_fullStr |
Perinatal Hypophosphatasia in a Premature Infant |
title_full_unstemmed |
Perinatal Hypophosphatasia in a Premature Infant |
title_sort |
perinatal hypophosphatasia in a premature infant |
publisher |
Thieme Medical Publishers, Inc. |
series |
American Journal of Perinatology Reports |
issn |
2157-6998 2157-7005 |
publishDate |
2020-04-01 |
description |
A premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head. Serum alkaline phosphatase was very low on admission. Extensive metaphyseal abnormalities, bowing of long bones, and poor ossification of all bones were noted on skeletal survey (radiography). Based on ultrasound evidence of “bowing” and long bone fractures at 26 weeks, amniocentesis was performed that later diagnosed hypophosphatasia by genetic testing while ruling out osteogenesis imperfecta. Although ventilated initially, the infant gradually improved with enzyme replacement therapy (ERT) and was extubated to noninvasive ventilation for 6 weeks. Following clinical deterioration with hypoxic respiratory failure secondary to sepsis at 4 months of age, he succumbed to severe pulmonary hypertension, likely secondary to chronic lung disease and prolonged ventilation. Early diagnosis allowed timely initiation of appropriate therapy. Radiological improvement with the therapy showed promising results in this rare disease. Despite specific novel therapy being available, variability in presentation dictates prognosis in this previously universally fatal condition. The potential unknown effects of ERT on pulmonary vascular remodeling need further investigation. |
topic |
hypophosphatasia ossification alkaline phosphatase |
url |
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1709512 |
work_keys_str_mv |
AT deepikasankaran perinatalhypophosphatasiainaprematureinfant AT praveenkchandrasekharan perinatalhypophosphatasiainaprematureinfant AT munmunrawat perinatalhypophosphatasiainaprematureinfant |
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