Autoimmune Overlap Syndrome in A 4 Year Old Girl – A Case Report

Background: The overlap syndrome is characterized by the simultaneous occurrence of more than one autoimmune disease.

Objective: We aimed to present the difficulties encountered in diagnosing and treating a young child with an overlap syndrome.

Case report: We present the case of a 4 year old female patient who was diagnosed with autoimmune hepatitis, primary sclerotic cholangitis and ulcerative colitis. The patient was being investigated for loss of appetite, weight loss, hepatosplenomegaly and bloody stools. The onset was 5 months prior to the diagnosis with bloody stools. Infectious causes were considered and the patient was treated accordingly. She had recurrent fever and hepatosplenomegaly. Laboratory tests showed severe anemia, high transaminases, cholestasis, high inflammatory markers, hypergammaglobulinemia (50,8 g/dl) and high fecal calprotectine (1370 mcg/g). Viral causes of liver cytolysis were excluded. Due to the persistence of liver cytolysis further investigations were performed and LKM1 antibodies were positive. At the time of the diagnosis the child was completely nonimmunized. Subsequently she received first doses of all mandatory vaccines but no following doses. The colonoscopy showed rectal mucosa with hyperemic patches, histopathological examination being consistent with ulcerative colitis. The liver biopsy displayed advanced hepatic fibrosis and cholangitis. Thus, correlating all data, the diagnostic of an overlap syndrome (autoimmune hepatitis and primary sclerotic cholangitis) associated with ulcerative colitis was established. She received systemic corticotherapy, tapered afterwards (complete exclusion was not possible due to recurrence of bloody stools and liver cytolysis) and azathioprine since the time of diagnosis.

Conclusions: Overlap syndrome is a possibility that should be considered in patients with autoimmune diseases. Further investigations should be conducted in order to establish a complete diagnosis of these patients in order to treat them accordingly.