e-ISSN 2147-2475
Cilt : 12 Say : 1 Yl : 2023

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Rotmund Thompson Sendromu: Aspirasyon Pnmonisi ile Prezente Olan Bir Olgu [Respir Case Rep]
Respir Case Rep. 2022; 11(3): 123-126 | DOI: 10.5505/respircase.2022.68736

Rotmund Thompson Sendromu: Aspirasyon Pnmonisi ile Prezente Olan Bir Olgu

Halil brahim Yakar, Handan Inonu Koseoglu, Ahmet Cemal Pazarl, Gkhan Aykun, Mustafa Parti, Hacer Kln
Tokat Gaziosmanpaa niversitesi, Tp Fakltesi, Gs Hastalklar Anabilim Dal, Tokat

Rothmund Thompson Sendromu (RTS) olduka nadir grlen bir sendromdur. ki klinik alt formu tanmlanmtr: poikiloderma, ektodermal displazi ve jvenil katarakt ile karakterize RTS-I formu ve konjenital kemik defektleri, ocuklukta artm osteosarkom ve cilt kanseri riski ile karakterize RTS-II formudur. Burada sunulan hasta, kemik deformiteleri, cilt kanseri yks ve gelime gerilii nedeniyle RTS-II formu idi. Hasta, iki gndr balayan nefes darl ve hrlt ikayeti ile hastanemize bavurdu. Posteroanterior akcier grafisinde ve toraks bilgisayarl tomografide sa akcierde total atelektazi, zefagusda ileri dzeyde dilatasyon ve zefagus distalinde obstrksiyon izlendi. Aspirasyon pnmonisi tansyla, antibiyoterapi, oksijen tedavisi ve destek tedavi baland. Tedavi altnda iken, kanama bozukluu nedeniyle alveolar hemoraji ve hematri geliti. Destek tedaviye ramen oklu organ yetmezlii (solunum yetmezlii, bbrek yetmezlii, pansitopeni) gelien hasta 8. gnde exitus oldu. Olgu RTS hastalarnda kanamaya eilim ve aspirasyon pnmonisi geliimine dikkat ekmek adna sunulmutur.

Anahtar Kelimeler: Rotmund Thompson Sendromu, Aspi̇, rasyon Pnmoni̇si̇, zefagus Dilatasyonu, Hemoraji

Rothmund Thompson Syndrome: A Case Report Presenting with Aspiration Pneumonia

Halil brahim Yakar, Handan Inonu Koseoglu, Ahmet Cemal Pazarl, Gkhan Aykun, Mustafa Parti, Hacer Kln
Department of Pulmonary Medicine, Tokat Gaziosmanpasa University, Faculty of Medicine, Tokat, Trkiye

In the few studies of Rothmund Thompson Syndrome (RTS) to date in literature, two clinical subforms have been identified: the RTS-I form, characterized by poikiloderma, ectodermal dysplasia and juvenile cataract; and the RTS-II form, characterized by congenital bone defects, increased risk of childhood osteosarcoma and skin cancer. We present here a case with the RTS-II form with bone deformities, history of skin cancer and growth retardation. The patient was admitted to our hospital with complaints of dyspnea for two days. Total atelectasis in the right lung and severe dilatation and obstruction in the distal esophagus were observed on a posteroanterior chest X-ray and thorax computed tomography, and antibiotherapy, oxygen therapy and supportive treatments were initiated after a diagnosis of aspiration pneumonia was made. Alveolar hemorrhage and hematuria developed during follow up due to bleeding disorder. Despite supportive treatment, the patient developed multiple organ failure (respiratory failure, renal failure, pancytopenia), and died on the 8th day of hospitalization. We present this case study to draw attention to the risk of bleeding tendency and aspiration pneumonia in RTS patients.

Keywords: Rothmund Thompson Syndrome, Aspiration Pneumonia, Esophageal Dilatation, Hemorrhage

Halil brahim Yakar, Handan Inonu Koseoglu, Ahmet Cemal Pazarl, Gkhan Aykun, Mustafa Parti, Hacer Kln. Rothmund Thompson Syndrome: A Case Report Presenting with Aspiration Pneumonia. Respir Case Rep. 2022; 11(3): 123-126

Sorumlu Yazar: Halil brahim Yakar, Trkiye
Makale Dili: ngilizce
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