Sarcoidosis del adulto de inicio en la infancia: a proposito de un caso / Pediatric-onset adult type sarcoidosis: A case report

La sarcoidosis, un trastorno multiorgánico de etiología desconocida que afecta varios órganos, es poco frecuente en los niños. Se desconocen la incidencia y la prevalencia reales de la sarcoidosis infantil. Al igual que en los adultos, muchos niños con sarcoidosis tal vez no presentan síntomas y la enfermedad cursa sin diagnosticarse. Es fundamental realizar una evaluación completa y sistemática del paciente para establecer el diagnóstico de sarcoidosis en los niños. Se describe el caso de una nina de 12 años con uveítis y hepatoesplenomegalia de dos años de evolución. Mediante una tomografía computarizada del tórax, se hallaron nódulos pulmonares periféricos dispersos y linfadenopatía hiliar bilateral. La aspiración de médula ósea y la biopsia de hígado no fueron diagnósticas. La biopsia de pulmón mostró granulomas de células epitelioides no necrosantes. A la paciente se le diagnosticó sarcoidosis en virtud del hallazgo de inflamación granulomatosa y de la exclusión de entidades confusoras.

Sarcoidosis, a multisystem disorder of unknown etiology that involves multiple organs, is rare in children. The true incidence and prevalence of childhood sarcoidosis is unknown. As in adults, many children with sarcoidosis may be asymptomatic; the disease may remain undiagnosed. A complete and systematic evaluation of the patient is essential for the sarcoidosis diagnosis in children. Here, we describe a case of 12-year-old female who presented with 2 years history of uveitis and hepatosplenomegaly. A chest computerized tomography revealed scattered peripheral pulmonary nodules and bilateral hiliar lymphadenopathy. Bone marrow aspiration and liver biopsy were not diagnostic. A lung biopsy showed non-necrotizing epithelioid cell granulomas. She was diagnosed with sarcoidosis according to demonstration of granulomatous inflammation and the exclusion of confusable entities

TTV infection in children with and without liver disease.

BACKGROUND: TTV DNA has been reported in patients with a broad spectrum of hepatic disorders as well as in healthy people. AIM: To clarify the role of TTV in children with liver disease and in healthy children. METHODS: Degenerate primers designed to amplify a target sequence from the ORF 1 region of TTV genome were used for nested PCR, to detect TTV DNA in sera. RESULTS: TTV was detected in 3 of 18 children with chronic hepatitis B (16.7%), 2 of 17 hepatitis B carriers (11.8%), 2 of 17 children with cryptogenic chronic liver disease (11.8%), and 1 of 40 (2.5%) children without liver disease. The infection rate was similar among the various study groups and in the various age groups. There was no difference between TTV positive and negative children in respect to gender, history of surgery, parenteral treatment, transfusion of blood and blood products, presence of hepatomegaly, splenomegaly, jaundice, and transaminase values. CONCLUSION: TTV does not seem to have an etiologic role in cryptogenic liver disease in children and does not seem to influence the clinical course of liver disease.

Hemophagocytic syndrome associated with visceral leishmaniasis.

Hemophagocytosis, either primary (familial) or secondary (reactive), is a life threatening condition in childhood. Etiology should be vigorously searched to avoid a diagnosis of primary hemophagocytosis and treatment with cytotoxic drugs. A child with visceral leishmaniasis causing hemophagocytosis is presented.

Serum carnitine and selenium levels in children with celiac disease.

BACKGROUND AND AIM: Celiac disease (CD) is a gluten-induced enteropathy that results in malabsorption of nutrients. We studied the serum levels of carnitine and selenium in children with CD. METHODS: Serum levels of free carnitine and selenium were studied in 30 children (mean age 8.1 [4.4] years) with CD and 30 age- and gender-matched healthy children. All patients had type 3 duodenal lesions. The mean (SD) serum levels of free carnitine and selenium were lower among patients with CD (24.5 [7.7] micromol/mL and 52.1 (12.9) micromol/mL, respectively) than among healthy controls (29.4 [9.2] and 65.1 [17.2] micromol/mL; p < 0.05 each). Levels were similar in children with and without diarrhea. CONCLUSIONS: Serum carnitine and selenium levels are decreased in children with CD, probably due to malabsorption.

Evaluation of diagnostic parameters of Wilson's disease in childhood.

BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder with variable clinical presentation. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the sensitivity of various diagnostic tests in children with WD and high liver copper concentrations. METHODS: Thirty-three children (6-15 years old, 19 male) with confirmed WD (hepatic copper >250 mcirog/g dry weight) were evaluated retrospectively. Eyes were examined with biomicroscope for Kayser-Fleischer rings and urinary copper content was determined in 30 patients. Serum ceruloplasmin levels were measured and liver tissue samples were stained with orcein in all. RESULTS: All patients presented with hepatic disease. Four patients also had neurological involvement. Hepatic copper concentration was between 250 and 1200 microg/g. Eighteen patients had liver cirrhosis, 9 chronic hepatitis, and 6 had massive hepatic necrosis on liver biopsy or necropsy. The sensitivity of various tests evaluated was: 100% (30/30) for urinary copper excretion, 88% (29/33) for orcein staining on liver tissues, 82% (27/33) for ceruloplasmin levels, and 63% (19/30) for presence of Kayser-Fleischer ring. Kayser-Fleischer ring was present in all patients with neurological manifestations and in 58% of patients with only hepatic presentation. CONCLUSIONS: 24-hour urinary copper excretion seems to be the most sensitive test for diagnosis of WD, particularly when liver biopsy cannot be performed due to coagulation abnormalities.