Menkes Disease Mimicking Child Abuse
Althouygh Menkes disease has well‐recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5‐month‐old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficie...
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| Veröffentlicht in: | Pediatric dermatology 2017-05, Vol.34 (3), p.e132-e134 |
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| container_end_page | e134 |
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| container_issue | 3 |
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| container_title | Pediatric dermatology |
| container_volume | 34 |
| creator | Droms, Rebecca J. Rork, Jillian F. McLean, Riley Martin, Madelena Belazarian, Leah Wiss, Karen |
| description | Althouygh Menkes disease has well‐recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5‐month‐old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse. |
| doi_str_mv | 10.1111/pde.13106 |
| format | Article |
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We describe a 5‐month‐old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. 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We describe a 5‐month‐old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse.</description><subject>Child abuse & neglect</subject><subject>Child Abuse - diagnosis</subject><subject>Diagnosis, Differential</subject><subject>Emergency Service, Hospital</subject><subject>Follow-Up Studies</subject><subject>Fractures</subject><subject>Fractures, Multiple - diagnosis</subject><subject>Fractures, Multiple - diagnostic imaging</subject><subject>Hematoma</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Premature</subject><subject>Long bone</subject><subject>Male</subject><subject>Menkes Kinky Hair Syndrome - diagnosis</subject><subject>Menkes Kinky Hair Syndrome - diagnostic imaging</subject><subject>Menkes syndrome</subject><subject>Mimicry</subject><subject>Radiography - methods</subject><subject>Rib</subject><subject>Risk Assessment</subject><subject>Spine</subject><subject>Spine (cervical)</subject><subject>Trauma</subject><issn>0736-8046</issn><issn>1525-1470</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kEtPwkAQgDdGI4ge_AOmiR70UJjpPro9EsBHAtGDnjd9THWhLdi1Mfx7i0UPJs5lLl--mXyMnSMMsZ3RJqMhcgR1wPooA-mjCOGQ9SHkytcgVI-dOLcEAK0UHrNeoDlqkLLPrhZUrch5U-soduQtbGnTla1evcmbLTJvnDSOTtlRHheOzvZ7wF5uZ8-Te3_-ePcwGc_9lMv2UpBzIqESiRkQah7oUAIJTEUAqn0pSoGDxjDNpYxRRBwCDZgnIsAsy2LFB-y6827q9XtD7sOU1qVUFHFF68YZ1GGEEURKt-jlH3S5buqq_c5gFIAUSogdddNRab12rqbcbGpbxvXWIJhdOtOmM9_pWvZib2ySkrJf8qdVC4w64NMWtP3fZJ6ms075BWe1cw0</recordid><startdate>201705</startdate><enddate>201705</enddate><creator>Droms, Rebecca J.</creator><creator>Rork, Jillian F.</creator><creator>McLean, Riley</creator><creator>Martin, Madelena</creator><creator>Belazarian, Leah</creator><creator>Wiss, Karen</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope></search><sort><creationdate>201705</creationdate><title>Menkes Disease Mimicking Child Abuse</title><author>Droms, Rebecca J. ; Rork, Jillian F. ; McLean, Riley ; Martin, Madelena ; Belazarian, Leah ; Wiss, Karen</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3536-2f3ee46b51d0e18328750e41c42061479c030817cf55a149302801fb421ddda63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Child abuse & neglect</topic><topic>Child Abuse - diagnosis</topic><topic>Diagnosis, Differential</topic><topic>Emergency Service, Hospital</topic><topic>Follow-Up Studies</topic><topic>Fractures</topic><topic>Fractures, Multiple - diagnosis</topic><topic>Fractures, Multiple - diagnostic imaging</topic><topic>Hematoma</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Premature</topic><topic>Long bone</topic><topic>Male</topic><topic>Menkes Kinky Hair Syndrome - diagnosis</topic><topic>Menkes Kinky Hair Syndrome - diagnostic imaging</topic><topic>Menkes syndrome</topic><topic>Mimicry</topic><topic>Radiography - methods</topic><topic>Rib</topic><topic>Risk Assessment</topic><topic>Spine</topic><topic>Spine (cervical)</topic><topic>Trauma</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Droms, Rebecca J.</creatorcontrib><creatorcontrib>Rork, Jillian F.</creatorcontrib><creatorcontrib>McLean, Riley</creatorcontrib><creatorcontrib>Martin, Madelena</creatorcontrib><creatorcontrib>Belazarian, Leah</creatorcontrib><creatorcontrib>Wiss, Karen</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Droms, Rebecca J.</au><au>Rork, Jillian F.</au><au>McLean, Riley</au><au>Martin, Madelena</au><au>Belazarian, Leah</au><au>Wiss, Karen</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Menkes Disease Mimicking Child Abuse</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2017-05</date><risdate>2017</risdate><volume>34</volume><issue>3</issue><spage>e132</spage><epage>e134</epage><pages>e132-e134</pages><issn>0736-8046</issn><eissn>1525-1470</eissn><abstract>Althouygh Menkes disease has well‐recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5‐month‐old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>28318055</pmid><doi>10.1111/pde.13106</doi><tpages>3</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Child abuse & neglect Child Abuse - diagnosis Diagnosis, Differential Emergency Service, Hospital Follow-Up Studies Fractures Fractures, Multiple - diagnosis Fractures, Multiple - diagnostic imaging Hematoma Humans Infant Infant, Premature Long bone Male Menkes Kinky Hair Syndrome - diagnosis Menkes Kinky Hair Syndrome - diagnostic imaging Menkes syndrome Mimicry Radiography - methods Rib Risk Assessment Spine Spine (cervical) Trauma |
| title | Menkes Disease Mimicking Child Abuse |
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