Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings

Infants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia. We present a case of infantile hypophosphatasia with multiple unexplained fractures but oth...

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Main Authors: Kasra Zarei, John A. Bernat, Yutaka Sato, Rachel Segal, Guru Bhoojhawon
Format: Article
Language:English
Published: Hindawi Limited 2020-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2020/3246762
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spelling doaj-487e6fb562de42479bc242460c588b842020-12-07T09:08:26ZengHindawi LimitedCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/32467623246762Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic FindingsKasra Zarei0John A. Bernat1Yutaka Sato2Rachel Segal3Guru Bhoojhawon4University of Iowa, Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USAUniversity of Iowa, Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USAUniversity of Iowa, Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USAUniversity of Iowa, Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USAUniversity of Iowa, Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USAInfants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia. We present a case of infantile hypophosphatasia with multiple unexplained fractures but otherwise normal radiographs in the setting of biochemical and genetic evidence of hypophosphatasia. Standard screening tests for hypophosphatasia include serum alkaline phosphatase level and genetic testing. Despite the presented case’s positive biochemical and genetic testing, the case did not have any other radiologic finding suggesting infantile hypophosphatasia, such as severe bone mineralization deficits and rickets. While patients with hypophosphatasia can have increased bone fragility, this has been reported in the context of radiologic abnormalities of the skeleton. Thus, this case is potentially the first reported infantile hypophosphatasia case presenting with no findings of rickets on radiographs, raising concern that the fractures and especially the radius head dislocation might be due to physical abuse.http://dx.doi.org/10.1155/2020/3246762
collection DOAJ
language English
format Article
sources DOAJ
author Kasra Zarei
John A. Bernat
Yutaka Sato
Rachel Segal
Guru Bhoojhawon
spellingShingle Kasra Zarei
John A. Bernat
Yutaka Sato
Rachel Segal
Guru Bhoojhawon
Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings
Case Reports in Pediatrics
author_facet Kasra Zarei
John A. Bernat
Yutaka Sato
Rachel Segal
Guru Bhoojhawon
author_sort Kasra Zarei
title Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings
title_short Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings
title_full Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings
title_fullStr Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings
title_full_unstemmed Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings
title_sort mimic for child physical abuse: biochemical and genetic evidence of hypophosphatasia without classic radiologic findings
publisher Hindawi Limited
series Case Reports in Pediatrics
issn 2090-6803
2090-6811
publishDate 2020-01-01
description Infants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia. We present a case of infantile hypophosphatasia with multiple unexplained fractures but otherwise normal radiographs in the setting of biochemical and genetic evidence of hypophosphatasia. Standard screening tests for hypophosphatasia include serum alkaline phosphatase level and genetic testing. Despite the presented case’s positive biochemical and genetic testing, the case did not have any other radiologic finding suggesting infantile hypophosphatasia, such as severe bone mineralization deficits and rickets. While patients with hypophosphatasia can have increased bone fragility, this has been reported in the context of radiologic abnormalities of the skeleton. Thus, this case is potentially the first reported infantile hypophosphatasia case presenting with no findings of rickets on radiographs, raising concern that the fractures and especially the radius head dislocation might be due to physical abuse.
url http://dx.doi.org/10.1155/2020/3246762
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