Hepatic Sarcoidosis

Abstract

Sarcoidosis is a chronic multisystem disease of unknown etiology characterized by the presence of noncaseating granulomas. We report its unusual presentation in a young child whose hepatic dysfunction raised a diagnostic dilemma. Case Report: A 5-year-old male from Mexico was admitted to the ICU with a hepatopathy. He had a 3-week history of daily high fevers, malaise and rash. Exam revealed an ill-appearing, pale child with mildly icteric sclerae, hepatosplenomegaly, ascites and a hyperpigmented, papular truncal rash. Diagnostic tests revealed: AST 259 U/L, ALT 332 U/L, ALP 1110 U/L, T.bili 2.5 mg/dL, Alb 1.7 g/dL, GGT 400 U/L, ESR 47 mm/hr, PT 15 sec, INR 1.43, PTT 53 sec and IgG 2470 mg/dL. Hgb was 7.7K/mm3; WBC and platelets were normal. Infectious evaluation was negative for viral, bacterial, mycobacterial, fungal and parasitic etiologies, including viral hepatitis A/B/C/E. No toxic, autoimmune, or metabolic causes of liver disease were identified. Chest CT revealed interstitial lung disease and enlarged mediastinal lymph nodes. Tuberculin skin testing and BAL culture/stains for acid fast bacilli were negative. Skin and bone marrow biopsies contained granulomatous foci. Liver biopsy showed necrosis, hepatocyte loss, giant cell transformation and noncaseating, non-necrotizing granulomas. Immunostaining ruled out histiocytosis and NBT testing was negative for chronic granulomatous disease. Elevated serum levels of ACE and aldolase were found. A final diagnosis of sarcoidosis was made and the patient was treated with oral prednisone with prompt resolution of the fever, rash and hepatopathy. Discussion: Recognizing sarcoidosis is challenging due to its nonspecific presentation. Diagnosis hinges on clinicoradiologic features, histologic proof of noncaseating granulomas, and exclusion of alternate disease processes. Up to 40% of patients with sarcoidosis can present with hepatomegaly and 4–7% with hepatitis. Clinically significant hepatic dysfunction is rare. Oral steroids can result in symptomatic and biochemical improvement, although relapse is common upon discontinuation. Ursodeoxycholic acid has been used as adjunctive therapy. [figure 1]Figure 1