Respir Case Rep. 2022; 11(3): 123-126 | DOI: 10.5505/respircase.2022.68736

Rothmund Thompson Syndrome: A Case Report Presenting with Aspiration Pneumonia

Halil Ýbrahim Yakar, Handan Inonu Koseoglu, Ahmet Cemal Pazarlý, Gökhan Aykun, Mustafa Parti, Hacer Kýlýnç
Department of Pulmonary Medicine, Tokat Gaziosmanpasa University, Faculty of Medicine, Tokat, Türkiye

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

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Rotmund Thompson Sendromu: Aspirasyon Pnömonisi ile Prezente Olan Bir Olgu

Halil Ýbrahim Yakar, Handan Inonu Koseoglu, Ahmet Cemal Pazarlý, Gökhan Aykun, Mustafa Parti, Hacer Kýlýnç
Tokat Gaziosmanpaþa Üniversitesi, Týp Fakültesi, Göðüs Hastalýklarý Anabilim Dalý, Tokat

Rothmund Thompson Sendromu (RTS) oldukça nadir görülen bir sendromdur. Ýki klinik alt formu tanýmlanmýþtýr: poikiloderma, ektodermal displazi ve jüvenil katarakt ile karakterize RTS-I formu ve konjenital kemik defektleri, çocuklukta artmýþ osteosarkom ve cilt kanseri riski ile karakterize RTS-II formudur. Burada sunulan hasta, kemik deformiteleri, cilt kanseri öyküsü ve geliþme geriliði nedeniyle RTS-II formu idi. Hasta, iki gündür baþlayan nefes darlýðý ve hýrýltý þikayeti ile hastanemize baþvurdu. Posteroanterior akciðer grafisinde ve toraks bilgisayarlý tomografide sað akciðerde total atelektazi, özefagusda ileri düzeyde dilatasyon ve özefagus distalinde obstrüksiyon izlendi. Aspirasyon pnömonisi tanýsýyla, antibiyoterapi, oksijen tedavisi ve destek tedavi baþlandý. Tedavi altýnda iken, kanama bozukluðu nedeniyle alveolar hemoraji ve hematüri geliþti. Destek tedaviye raðmen çoklu organ yetmezliði (solunum yetmezliði, böbrek yetmezliði, pansitopeni) geliþen hasta 8. günde exitus oldu. Olgu RTS hastalarýnda kanamaya eðilim ve aspirasyon pnömonisi geliþimine dikkat çekmek adýna sunulmuþtur.

Anahtar Kelimeler: Rotmund Thompson Sendromu, Aspi̇, rasyon Pnömoni̇si̇, Özefagus Dilatasyonu, Hemoraji

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