An unusual case of childhood sarcoidosis: Un caso clínico infrecuente / Sarcoidosis infantil

Sarcoidosis is a systemic granulomatous disease of unknown etiology that may affect many systems, mainly lungs. Most of the patients present at stages I and II lung involvement. Pulmonary infltrates without hilar lymphadenopathy (state III) rarely occurs. Extrapulmonary organ involvement is common in pediatric sarcoidosis. The aim of this report is to present an unusual case of childhood sarcoidosis with stage III lung involvement without any extrapulmonary organ involvement. A 7-year-old girl presented with the complaints of malaise, fatigue, weight loss and dyspnea. There was patchy, bilateral ground glass view at high resolution computer tomography. Video assisted thoracoscopic lung biopsy was performed and histopathological examination showed nonnecrotising epitheloid-cell granulomas with giant cells. She did not have any hilar or extrapulmonary organ involvement and pulmonary sarcoidosis at stage III was diagnosed. Sarcoidosis should be considered in the differential diagnosis of children with interstitial lung disease.

La sarcoidosis es una enfermedad granulomatosa sistémica de etiología desconocida que puede afectar varios órganos, principalmente el pulmón. La mayoría de los pacientes presentan estadios I y II de compromiso pulmonar. Los infltrados pulmonares, sin linfadenopatías hiliares (estadio III), son infrecuentes. El compromiso de órganos extrapulmonares es común en la sarcoidosis infantil. El objetivo es presentar un caso infrecuente de sarcoidosis infantil con compromiso pulmonar en estadio III sin afectación de los órganos extrapulmonares. Una niña de 7 años consultó por malestar general, fatiga, pérdida de peso y disnea. En la tomografía computarizada de alta resolución se observó un infltrado bilateral de tipo esmerilado. Se realizó una biopsia pulmonar por videotoracoscopia. La histopatología mostró granulomas no necrosantes de células epitelioides con células gigantes. No había compromiso hiliar ni de otros órganos, por lo que el diagnóstico fue de sarcoidosis en estadio III. La sarcoidosis debe considerarse en el diagnóstico diferencial de los niños con enfermedad intersticial pulmonar.

An unusual case of childhood sarcoidosis: an unusual clinical case / An unusual case of childhood sarcoidosis: an unusual clinical case.

Sarcoidosis is a systemic granulomatous disease of unknown etiology that may affect many systems, mainly lungs. Most of the patients present at stages I and II lung involvement. Pulmonary infltrates without hilar lymphadenopathy (state III) rarely occurs. Extrapulmonary organ involvement is common in pediatric sarcoidosis. The aim of this report is to present an unusual case of childhood sarcoidosis with stage III lung involvement without any extrapulmonary organ involvement. A 7-year-old girl presented with the complaints of malaise, fatigue, weight loss and dyspnea. There was patchy, bilateral ground glass view at high resolution computer tomography. Video assisted thoracoscopic lung biopsy was performed and histopathological examination showed nonnecrotising epitheloid-cell granulomas with giant cells. She did not have any hilar or extrapulmonary organ involvement and pulmonary sarcoidosis at stage III was diagnosed. Sarcoidosis should be considered in the differential diagnosis of children with interstitial lung disease.

Mitochondrial DNA common deletion is not associated with thyroid, breast and colorectal tumors in Turkish patients

Recently, efforts have been focused on mitochondrial DNA changes and their relation to human cancers. Among them, a 4977 bp deletion of mitochondrial DNA, named "common deletion", has been investigated in several types of tumors, with inconsistent results. In this study, we investigated the presence of the common deletion in tissues from 25 breast, 25 colorectal and 50 thyroid tumors and in the adjacent healthy tissues from Turkish patients. Samples from healthy volunteers were also evaluated for comparison. Two PCR-based methods were used for the detection of the common deletion. First, two pairs of primers were used to amplify wild-type and deleted mtDNA. Then, a highly sensitive nested-PCR was performed, to determine low amounts of deleted genomes. By the first method, wild-type mtDNAs were observed in all samples, but a deletion was observed in only six thyroid samples, by using the nested-PCR method. In conclusion, the mitochondrial common deletion was very rare in our study group and did not appear to be not related with cancer.