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A Diagnostic Dilemma: Job Syndrome Mimics Abusive Trauma     
Yazarlar
Dr. Öğr. Üyesi Serbülent KILIÇ
Kastamonu Üniversitesi, Türkiye
Arzu Oto
Türkiye
Orhan Görükmez
Türkiye
Ayşenur Metin
Özet
In some cases, making of physical abuse diagnosis can be difficult if the findings were derived from an unusual disease or an unexpected finding of a common disease. A female infant was admitted to emergency department of our hospital, who was suffering from loss of consciousness. Examination and imaging methods revealed subarachnoid hemorrhage, old and new femur fractures, bilateral retinal hemorrhage. Performing genetic tests with multidisciplinary approach concluded that our case was found to have a mutation, DOCK8 (NM_001190458; c.2071G>A; p.Val691Met), suggests to Job syndrome (JS). JS is not only an immunodeficiency syndrome but also can be manifested by skeletal and connective tissue disorders. The fractures were most likely due to JS. Physicians must be aware of these probabilities. On the other hand, though it was only reported in a heterozygous form in GenomAD (genome aggregation database) it has big value that it was homozygous in our case.
Anahtar Kelimeler
Child abuse | Job syndrome | physical abuse
Makale Türü Özgün Makale
Makale Alt Türü ESCI dergilerinde yayımlanan tam makale
Dergi Adı Turkish Journal of Pediatric Emergency and Intensive Care Medicine
Dergi ISSN 2146-2399
Dergi Tarandığı Indeksler ESCI
Makale Dili İngilizce
Basım Tarihi 07-2024
Cilt No 11
Sayı 2
Sayfalar 133 / 136
Doi Numarası 10.4274/cayd.galenos.2024.73626
Makale Linki http://dx.doi.org/10.4274/cayd.galenos.2024.73626
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Atıf Sayıları
A Diagnostic Dilemma: Job Syndrome Mimics Abusive Trauma

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