A Rare Case of Glycogen Storage Disease Type 1a Presenting with Hemophagocytic Lymphohistiocytosis (HLH)
| العنوان: | A Rare Case of Glycogen Storage Disease Type 1a Presenting with Hemophagocytic Lymphohistiocytosis (HLH) |
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| المؤلفون: | Hedyeh Saneifard, Simin Karizi Zarea, Marjan Shakiba, Ali Sheikhy, Bibishahin Shamsian |
| المصدر: | Case Reports in Pediatrics Case Reports in Pediatrics, Vol 2020 (2020) |
| بيانات النشر: | Hindawi, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, endocrine system, Case Report, Pallor, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, medicine, Glycogen storage disease, 030304 developmental biology, 0303 health sciences, Hemophagocytic lymphohistiocytosis, Respiratory distress, business.industry, General Medicine, medicine.disease, Poor Feeding, Diarrhea, 030220 oncology & carcinogenesis, Prednisolone, medicine.symptom, Differential diagnosis, business, medicine.drug |
| الوصف: | Background. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome characterized by fever, respiratory distress, massive hepatomegaly, and bicytopenia. It is classified into primary (congenital) and secondary (acquired) types. There are many diseases associated with secondary HLH, but glycogen storage disease is a novel cause of secondary HLH. Case Presentation. In this case, we present a five-month-old female infant with recurrent fever, poor feeding, pallor, and prolonged diarrhea for two months. With a diagnosis of HLH, the patient was treated with IVIG and prednisolone. After treatment was initiated, the patient’s general condition improved. All metabolic workup was normal. We did whole-exome sequencing that confirmed glycogen storage disease (GSD) type 1. Conclusion. Metabolic diseases are one of the severe causes of secondary HLH in infants; hence, complete metabolic assessment is mandatory in these patients, and GSD must be included in the differential diagnosis of HLH metabolic causes. |
| اللغة: | English |
| تدمد: | 2090-6811 2090-6803 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91d45e75beb3232b499bbc5fb0f47f18Test http://europepmc.org/articles/PMC7673914Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....91d45e75beb3232b499bbc5fb0f47f18 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20906811 20906803 |
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