Pediatric hepatic sarcoidosis presenting as hypersplenism and portal hypertension.

Abstract

Paediatric sarcoidosis is a rare multisystem granulomatous disorder with highly variable manifestations. Predominant hepatic involvement without pulmonary or systemic features is exceedingly uncommon in children and poses significant diagnostic challenges, particularly when liver enzymes are normal. We report a mid-childhood female presenting with massive splenomegaly, pancytopenia and portal hypertension without constitutional or respiratory symptoms. Extensive evaluation excluded infectious, autoimmune, metabolic and genetic causes. Liver biopsy revealed well-formed non-necrotising granulomas consistent with sarcoidosis, while gallium scintigraphy demonstrated isolated splenic uptake without pulmonary or lymph node involvement. Despite prolonged corticosteroid and azathioprine therapy, severe hypersplenism persisted, necessitating elective splenectomy, following which haematological parameters normalised with marked clinical improvement. No systemic manifestations developed during the 1-year follow-up. This case highlights that normal liver enzymes do not exclude significant hepatic sarcoidosis and that refractory hypersplenism may require splenectomy when medical therapy fails.