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

Kasra Zarei; John A. Bernat; Yutaka Sato; Rachel Segal; Guru Bhoojhawon

doi:10.1155/2020/3246762

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

Journal article

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

Kasra Zarei, John A. Bernat, Yutaka Sato, Rachel Segal and Guru Bhoojhawon

Case reports in pediatrics, Vol.2020, pp.1-4

11/24/2020

DOI: 10.1155/2020/3246762

PMCID: PMC7707996

PMID: 33299629

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Abstract

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.

Pediatrics

Life Sciences & Biomedicine

Science & Technology

Details

Title: Subtitle: Mimic for Child Physical Abuse: Biochemical and Genetic Evidence of Hypophosphatasia without Classic Radiologic Findings
Creators: Kasra Zarei - Roy J. and Lucille A. Carver College of Medicine
John A. Bernat - Roy J. and Lucille A. Carver College of Medicine
Yutaka Sato - Roy J. and Lucille A. Carver College of Medicine
Rachel Segal - Roy J. and Lucille A. Carver College of Medicine
Guru Bhoojhawon - Roy J. and Lucille A. Carver College of Medicine
Resource Type: Journal article
Publication Details: Case reports in pediatrics, Vol.2020, pp.1-4
DOI: 10.1155/2020/3246762
PMID: 33299629
PMCID: PMC7707996
NLM abbreviation: Case Rep Pediatr
ISSN: 2090-6803
eISSN: 2090-6811
Publisher: Hindawi Publishing Group
Number of pages: 4
Language: English
Date published: 11/24/2020
Academic Unit: Radiology; Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984320006002771

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