2023-06-072023-06-072016-05-25Erdöl, Ş. vd. (2016). "An unusual case of LCHAD deficiency presenting with a clinical picture of hemophagocytic lymphohistiocytosis: Secondary HLH or coincidence?". Journal of Pediatric Hematology Oncology, 38(8), 661-662.1077-41141536-3678https://doi.org/10.1097/MPH.0000000000000626https://journals.lww.com/jpho-online/Fulltext/2016/11000/An_Unusual_Case_of_LCHAD_Deficiency_Presenting.14.aspxhttp://hdl.handle.net/11452/32965There are published reports stating that some of the congenital metabolic diseases, such as lysinuric protein intolerance, multiple sulphatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, might lead to secondary hemophagocytic lymphohistiocytosis (HLH). However, to date, to our knowledge, the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency has never been investigated among patients with HLH. Here, we report on a patient who was referred to our institution for a differential diagnosis of pancytopenia, liver failure, and rhabdomyolysis. The patient was diagnosed with HLH. Further investigation revealed an underlying diagnosis of the LCHAD deficiency. Our case was reported to contribute to the literature, as well as the HLH clinic, emphasizing the consideration of LCHAD deficiency, especially in 1 to 6 months' old infants with laboratory findings of hypoglycemia, metabolic acidosis, and elevated creatine kinase.eninfo:eu-repo/semantics/closedAccessOncologyHematologyPediatricsHemophagocytic lymphohistiocytosisLCHAD deficiencyLiver failureAcidosisCardiomyopathiesCreatine kinaseDiagnosis, differentialDNA mutational analysisHumansHypoglycemiaInfantLipid metabolism, inborn errorsLymphohistiocytosis, hemophagocyticMitochondrial myopathiesMitochondrial trifunctional proteinNervous system diseasesRhabdomyolysisArticle0003880156000312-s2.0-8499467207266166238827769081OncologyHematologyPediatricsHemophagocytic Lymphohistiocytosis; Macrophage Activation Syndrome; Juvenile ArthritisCreatine kinaseMitochondrial trifunctional proteinCase reportClinical featureCreatine kinase blood levelDifferential diagnosisFemaleGene mutationHemophagocytic syndromeHumanHypoglycemiaInfantLaboratory diagnosisLiver failureMetabolic acidosisMultiple acyl CoA dehydrogenase deficiencyMutational analysisPancytopeniaPriority journalReviewRhabdomyolysisAcidosisCardiomyopathiesDeficiencyDna mutational analysisGeneticsHypoglycemiaLipid metabolism, inborn errorsLymphohistiocytosis, hemophagocyticMitochondrial myopathiesNervous system diseases