title: An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence?
abstract: There 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.
authors: Departments of *Pediatrics, Division of Metabolism†Medical Genetics‡Pediatrics, Division of Hematology, Uludag University Faculty of Medicine, Gorukle, Bursa, Turkey.
authors: Sahin
authors: S
authors: Erdol
authors: Mehmet
authors: M
authors: Ture
authors: Birol
authors: B
authors: Baytan
authors: Tahsin
authors: T
authors: Yakut
authors: Halil
authors: H
authors: Saglam
mesh_terms: D000138:Acidosis; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics; D003402:Creatine Kinase; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D007003:Hypoglycemia; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis*; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics; D063991:Mitochondrial Trifunctional Protein / Q000172:deficiency* / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics; D012206:Rhabdomyolysis / Q000175:diagnosis* / Q000235:genetics
chemical_list: D063991:Mitochondrial Trifunctional Protein; D003402:Creatine Kinase