Almost all congenital ISJXG cases, people that have visceral involvement even, experience disease regression without specific treatment;4 however, severe morbidity continues to be reported in a few full situations, which need supportive chemotherapy and interventions.10,22,28 Treatment protocols recommended for patients with symptoms who have unresectable lesions are those used for LCH. or molecular genetic defect has been identified. This case demonstrates that the autopsy is a handy tool, because hepatic infiltration, which was not considered clinically, determined a restrictive respiratory impairment. In our opinion, this was the direct cause of death. were negative. Serum tumor markers as alpha-fetoprotein, human chorionic gonadotropin, and carcinoembryonic antigen were negative. The platelet count ranged from 4,000 to 18,000/ mm3 (reference range [RR]; 142-424 x 103/mm3), hemoglobin range was 7.5-11.3 g/dL (RR;12.2-18.1 g/dL); peripheral blood leukocyte count range was 4,580-8,520/mm3 (RR; 4.60-10.20 x 103/mm3). Electrolytes showed persistent hyponatremia (sodium range 124-133 mEq/L [RR; 132-144 mEq/L]). However, potassium and renal function tests were within the normal limits. Three days after admission she was suffering from anasarca, and liver function tests showed low serum albumin 1.4 g/dL (RR; 3.50-5.00 g/dL) and notable coagulopathy with an increased Prothrombin Time and a I.N.R of 2.52 (RR; 1); serum aspartate aminotransferase range was 11-325 UI/L (RR; 12-50 UI/L), alanine aminotransferase range was 1.1-55 UI/L (RR; 10-40 UI/L), -glutamyl transpeptidase 24.3 UI/L (RR; 10-40 EC-17 disodium salt UI/L), total bilirubin range 2.59-8.75 mg/dL (RR; 0.20-1.00 mg/dL), alkaline phosphatase 38.54 UI/L (RR; 50-136 UI/L), and C-reactive protein 47.72 mg/L (RR; 5 mg/L). Serum immunoglobulin levels were: IgG 169 mg/dL (RR; 100-360 mg/dL), IgM 14 mg/dL (RR; 26-122 mg/dL), IgA 3 mg/dL (RR; 7-37 mg/dL), and IgE 0.71 (UI/mL, 1.5). Serologic testing for syphilis was negative. A second abdominal ultrasound revealed retroperitoneal lymphadenopathy and ascites, and the kidneys were normal. The clinical course following admission was of rapid deterioration with worsening hepatomegaly, hyperbilirubinemia, abdominal distention, abdominal circumference 43.5 cm (Figure 1A) and ascites, radiological thoracoabdominal images showed bilateral diaphragm elevation (Figure 1B) and intestinal distention. Open in a separate window Figure 1 A C Gross examination of the corpse showing marked abdominal distention (abdominal circumference 43.5 cm). Note the skin nodules (arrows) on the upper left extremity and lower right extremity, and genital edema; B C Plain thoraco-abdominal radiograph demonstrating the enlarged liver and diaphragm elevation. On the fourth day a limited bone marrow aspirate showed no abnormal infiltrate or hemophagocytosis, and an excisional skin biopsy was taken. The patient died on the fifth day with respiratory distress syndrome (respiratory rate 70 breaths per minute), without evidence of hemorrhage. PATHOLOGIC FINDINGS Due to the working diagnosis of congenital leukemia, a skin excisional biopsy was received and was evaluated immediately by fine needle aspiration (FNA) (caliber 26), which disclosed large histiocytic-like cells (Figure 2); therefore, the diagnosis of histiocytosis was suggested. The surgical specimen was studied on formalin-fixed and paraffin-embedded tissue sections. Open in a separate window Figure 2 Cytological example obtained by FNA of the skin biopsy. Disclosed monotonous histiocytic type cells. Cytologic features allowed us to suggest the diagnosis of histiocytosis. FNA = fine needle aspiration. (H&E stain), EC-17 disodium salt A (100 X), B (400 X). Light microscopic study at low magnification revealed a dense cellular nodule poorly demarcated involving the entire dermis. At higher magnification, the predominant cells appeared to be histiocytes, with occasional eosinophils. There were few Touton giant cells (Figure 3), but EC-17 disodium salt no cells with foamy cytoplasm, nuclear atypia, or mitotic figures. Open Rabbit Polyclonal to A20A1 in a separate window Figure 3 Photomicrographs of the skin biopsy showing dermal expansion for infiltration of histiocytes and occasional Touton giant and eosinophil cells (H&E stain) A (40X), B (100X), C (400 X), and D (400_X). The diagnosis of JXG was made. Immunohistochemical staining showed that all histiocytes were positive for CD68, CD163, and Factor XIIIa, and negative for S-100, CD1a, and langerin (Figure 4) (CD68/KP-1:700/Biocare, CD163/1:50/BioSb, Factor XIIIa/1:200/Biocare, S-100/1:3800/Dako, CD1a/1:500/Dako, and langerin/1:40/BioSb, respectively). Open in a separate window Figure 4 Photomicrographs of the skin biopsy. Immunohistochemistry was positive for CD68 (A) and Factor XIIIa (C), and negative for CD1a (B) and S-100 (D). Autopsy permission was restricted to the thoracic and abdominal organs. The infant had generalized edema, an EC-17 disodium salt abdominal circumference of 43.5 cm, ascites,.