title: [Auto-immune hepatitis in chronic granulomatous disease in a 2-year-old girl].
abstract: BACKGROUND
  Chronic granulomatous disease is a rare inherited primary immune deficiency disease characterized by recurrent infection and an increased susceptibility to autoimmunity disorders. We report on the case of a girl with autoimmune hepatitis in chronic granulomatous disease to describe the clinical and biological features and treatment implications for patients with chronic granulomatous disease associated with autoimmune disorders.
  
  
  METHODS
  An 18-month-old girl was referred to our department for investigation of hepatomegaly. She was the third child of non-consanguineous parents. Her two elder sisters had died from infectious diseases at an early age. She had elevated liver transaminase levels with a normal gamma globulin concentration. Negative results were found for all autoimmune markers (antinuclear antibody, anti-smooth muscle, anti-liver-kidney microsomal, anti-liver cytosol and anti-soluble liver antigen). Her liver biopsy showed features of interface hepatitis with portal fibrosis. The diagnosis of seronegative autoimmune hepatitis was established. Treatment with corticosteroids and azathioprine led to clinical improvement with normalization of transaminases. Six months after initial presentation, at the age of 2 years, she was readmitted for fever. Staphylococcus aureus bacteremia was identified with multiple foci of infection (skin infection, arthritis of the right elbow, pneumonia, buttock abscess). The immunological workup revealed chronic granulomatous disease. The course was marked by a fatal outcome despite appropriate antibiotics and intensive care.
  
  
  CONCLUSIONS
  Early diagnosis of the association between chronic granulomatous disease and autoimmune disorders allows for appropriate treatments, improves the quality of life for affected patients, and reduces the risk of mortality.
authors: Service de pédiatrie, urgences et de réanimation pédiatriques, CHU Hédi Chaker, route El Aïn, Km 0,5, 3029 Sfax, Tunisie; Faculté de médecine, Sfax, Tunisie. Electronic address: abdelhedigargourilamia@yahoo.fr.
authors: L
authors: L
authors: Gargouri
authors: Service de pédiatrie, urgences et de réanimation pédiatriques, CHU Hédi Chaker, route El Aïn, Km 0,5, 3029 Sfax, Tunisie; Faculté de médecine, Sfax, Tunisie.
authors: F
authors: F
authors: Safi
authors: Service de pédiatrie, urgences et de réanimation pédiatriques, CHU Hédi Chaker, route El Aïn, Km 0,5, 3029 Sfax, Tunisie; Faculté de médecine, Sfax, Tunisie.
authors: I
authors: I
authors: Mejdoub
authors: Service de pédiatrie, urgences et de réanimation pédiatriques, CHU Hédi Chaker, route El Aïn, Km 0,5, 3029 Sfax, Tunisie; Faculté de médecine, Sfax, Tunisie.
authors: B
authors: B
authors: Maalej
authors: Laboratoire de cyto-immunologie, institut Pasteur, Tunis, Tunisie.
authors: N
authors: N
authors: Mekki
authors: Faculté de médecine, Sfax, Tunisie; Service d'anatomopathologie, CHU Habib Bourguiba, Sfax, Tunisie.
authors: H
authors: H
authors: Mnif
authors: Laboratoire de cyto-immunologie, institut Pasteur, Tunis, Tunisie.
authors: I
authors: I
authors: Ben Mustapha
authors: Laboratoire de cyto-immunologie, institut Pasteur, Tunis, Tunisie.
authors: M R
authors: MR
authors: Barbouche
authors: Faculté de médecine, Sfax, Tunisie; Service d'anatomopathologie, CHU Habib Bourguiba, Sfax, Tunisie.
authors: T
authors: T
authors: Boudawara
authors: Service de pédiatrie, urgences et de réanimation pédiatriques, CHU Hédi Chaker, route El Aïn, Km 0,5, 3029 Sfax, Tunisie; Faculté de médecine, Sfax, Tunisie.
authors: A
authors: A
authors: Mahfoudh
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D016470:Bacteremia / Q000175:diagnosis; D002675:Child, Preschool; D003422:Critical Care; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D019693:Hepatitis, Autoimmune / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007223:Infant; D013203:Staphylococcal Infections / Q000175:diagnosis
chemical_list: D000900:Anti-Bacterial Agents