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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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/3246762 |
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| _version_ | 1850109680626434048 |
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| author | Kasra Zarei John A. Bernat Yutaka Sato Rachel Segal Guru Bhoojhawon |
| author_facet | Kasra Zarei John A. Bernat Yutaka Sato Rachel Segal Guru Bhoojhawon |
| author_sort | Kasra Zarei |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-487e6fb562de42479bc242460c588b84 |
| institution | OA Journals |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-487e6fb562de42479bc242460c588b842025-08-20T02:38:01ZengWileyCase 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 |
| 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 |
| title | 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_short | 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 |
| url | http://dx.doi.org/10.1155/2020/3246762 |
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