Jornal de doenças genéticas e relatórios genéticos

A Case of Wolf-Hirschhorn Syndrome and Familial Mediterranean Fever

Kazuaki Matsumoto* and Masayasu Ohta

Wolf-Hirschhorn syndrome is a genetic syndrome that includes growth failure, mental retardation, congenital heart disease, typical facial features and epilepsy. This syndrome is associated with a microdeletion of the short arm of chromosome 4. Familial Mediterranean fever is a hereditary autoinflammatory disorder characterized by fever and serosal inflammation that affects abdomen, chest and joints. This disorder is associated with mutations in MEFV located on chromosome 16p. We report a case of a child with Wolf-Hirschhorn syndrome presenting with recurrent fever, vomiting and diarrhea and diagnosed with familial Mediterranean fever. MEFV sequence showed complex allele mutations. Colchicine shortens the duration and ameliorates the severity of symptoms, which avoid hospitalization. We discuss the difficulty in diagnosing these two relatively rare comorbities and review literatures.