A rare clinical association: Barth syndrome and cystic fibrosis

Özet

Barth syndrome (BS) is a rare X-linked recessive metabolic disordercharacterized by cardiomyopathy, hypotonia, neutropenia, growth retardationand 3-methylglutaconic aciduria type II. Cystic fibrosis is a common autosomalrecessive genetic disorder in Caucasians. Herein, we reported a rare clinicalassociation in an infant diagnosed based on clinical and genetic analysis.A six-month old boy admitted with chronic steatorrhea. The diagnosis ofcystic fibrosis was made after clinical and laboratory examinations. Fifteendays later, the patient was presented with restlessness and moaning. Hehad hypoglycemia and lactic acidosis. The patient died three hours afterthe admission. Pedigree analysis revealed similar sudden infant deaths inclose relatives. Postmortem genetic analysis revealed the diagnosis of Barthsyndrome. This is the first case of the association of Barth syndrome withcystic fibrosis. Our case reinforces the importance of pedigree analysis andpostmortem examinations.