Öz
Case A five year and four month old female patient was referred to an external hospital with a complaint of thickening and cyanosis in the tips of the fingers and toes which was noted for the last two months She was referred to our clinic for further investigation and treatment with a prediagnosis of malignancy because of multiple nodular lesions found on chest x ray and thoracic tomography Her personal history revelaed no pathology except for occasional epistaxis At presentation her physical examination revealed the following: her general status was well her consciousness was open she was cooperated her weight and height were between the 5 25 50th percentile cyanosis was observed in her tounge lips oral mucosa and finger tips In addition clubbing was present in her finger tips Telengiectasies were found on her face Examination of the respiratory system was normal Her apical heart beat was found to be 130 min and her blood pressure was found to be 90 70 mmHg Cardiac sounds were found to be normal Examination of the gastrointestinal and nervous systems was normal However she had an articulation disorder for a few words White blood cells: 11900 mm3 hemoglobin: 15 1 g dL hematocrite 45 7 platelet count: 405000 mm3 LDH: 263 U L Other laboratory findings were found to be normal Echocardiography was found to be normal The patient was referred to our clinic with a prediagnosis of malignancy metastasis when bilateral diffuse nodular lesions were found on chest x ray Picture 1 and multiple nodular lesions with various localizations and sizes were found diffusely in both lungs on high resolution lung tomography with the largest one in the superior segment of the lower lobe in the right lung with a size of 14x11 mm and additionally consolidation areas including air bronchograms were found in the anterobasal segments of the lower lobe in the right lung and posterobasal segments of the lower lobe in the left lung The laboratory findings in our hospital were as follows: hemoglobin: 13 7 g dL hematocrite: 41 3 erythrocyte count: 5 44 mm3 white blood cells: 14500 mm3 Acute phase response PT aPT INR creatinine ALT AST fasting blood glucose electrolytes and methemoglobin levels were found to be normal LDH was found to be 506 U L Capillary oxygen saturation was found to be 69 in room air and no increase in capillary oxygen saturation was observed when 100 oxygen was inhaled beginning: 69 final: 72 The patient who had normal echocardiography findings had a normal caridothoracic index on telegraphy Further investigations were decided to be performed Diagnosis: Osler Weber Rendu syndrome It was thought that the patient might have pulmonary arteriovenous malformation or fistula because of presence of central cyanosis recurrent epistaxis and telengiectasies on the face absence of pathology in the heart and exclusion of methemoglobinemia Echocardiography performed using contrast material revelaed the right atrium and right ventricle were filled with bubbles initially and the left atrium was filled with bubbles in the second cycle Contrast enhanced lung tomography was ordered Nodular lesions showing multiple dense contrast uptake in bilateral lung paranchymes with the larger one with a size of 6x25 mm in the basal segment of the lower lobe of the right lung were observed on contrast enhanced lung tomography and arteriovenous malformation was considered when the supplying artery and draining vein were noted clearly in the lesion which was especially large in the right lung Highly diffuse arteriovenous malformations especially prominent in the lower lobes were observed with selective pulmonary artery injections performed seperately in both pulmonary arteries during cardiac catheterization Figure 2A 2B Especially two arteriovenous malformations were observed to have multiple supplying arteries and direct filling into the pulmonary vein from these arteries was observed Hyperechoic nodular lesions containing internal vascularization surrounded by a hypoechoic moon were found in the center of the liver with dimensions of 18x15x12 mm adjacent anteriorly to the main portal vein and 33x6x24 mm in the 6th segment on abdominal ultrasonography performed in terms of possible involvement in other internal organs Abdominal magnetic resonance imaging revealed a vascular lesion was observed with dimensions of 17x16 mm in the center of the 4 8th segment of the liver and 31x30 mm in the 6th segment of the liver showing mild hyperintense appearance on T2a examination and mild hypointense appearance on T1a examination and intense contrast uptake on post contrast examination This was considered as an arteriovenous malformation Cranial magnetic resonance imaging was found to be normal According to Curacao criteria 1 a diagnosis of Osler Weber rendu syndrome was made with spontaneous recurrent epistaxis mucocuteneous telengiectasia and arteriovenous malformations in the organs lung and liver Discussion Osler Weber rendu syndrome is a familial autosomal dominant vascular dysplasia characterized by telengiectasies and mucosal bleedings The incidence of the disease ranges between 1 5000 and 1 8000 The most common pathologic finding is telengiectasies which lead to mucocutaneous bleedings and epistaxis is frequently the first finding in the childhood The second most common finding is arteriovenous malformations AVM in the internal organs The most common localizations include lung brain and hepatic circulation 1 2 3 The diagnostis criteria in Osler Weber Rendu syndrome include spontaneous recurring epistaxis mucocutaneous telengiectasies AVM rsquo;s in the internal organs and presence of Osler Weber Rendu syndrome in the first degree relatives The diagnosis is made with presence of at least three criteria 1 The diagnosis of arteriovenous malformations is possible with contrast enhanced echocardiography contrast enhanced CT and angiography 4 The fact that mucocutaneous findings are not prominent especially in the first ten years and recurrent epistaxis which is the most common finding is associated with trauma upper respiratory infection and allergic diseases in children makes the diagnosis difficult 5 Considering all age groups recurrent epistaxis is observed in 90 95 of the patients 6 7 and gastrointestinal bleedings are observed in 10 33 of the patients 8 9 due to mucosal involvement Considering internal organ involvement AVM rsquo;s are observed in the lung in 30 40 of the patients and in the brain 15 20 of the patients while the frequency in the liver is not exactly known Rarely AVM rsquo;s may also be observed in the spleen coronary arteries eye and genitourinary tract 3 10 11 12 AVM in the lung may be observed in a single lung or as a single lesion in both lungs or may be diffuse 13 14 15 Diffuse AVMs in both lungs and two AVMs in the liver were found in our patient and there was no AVM in the brain Patients who have AVM in the lungs may stay asymptomatic for a long time In symptomatic patients respiratory complaints exercise intolerance and cyanosis are obsevred commonly 3 Our patient had clubbing in the fingers ans cyanosis Cyanosis was related to lung involvement Since the first finding in undiagnosed patients may sometimes be life threatening lung bleeding stroke due to righ to left shunt or brain bascess early diagnosis and treatment is important 3 13 To diagnose arteriovenous malformations contrast enhanced studies should be performed 4 13 14 15 If nodular lesions are observed on chest x ray amd thoracic CT in patients with cyanosis contrast enhanced studies should be performed for internal organs 4 13 14 15 Our patient is a good example for this Otherwise malignancy metastasis may be considered incorrectly in presence of nodular lesions as in this patient This may lead to loss of the patient before the diagnosis is made as a result of diagnostic biopsy of the nodular lesion or as a result of spontaneous acute hemorrhage In treatment manuel transcatheter embolization aimed at local AVMs or surgery is performed In patients with highly diffuse AVMs lung transplantation is recommended 3 4 15 Embolization and surgical intervention were not performed in our patient since the AVMs in the lungs were bilateral and diffuse However the patient and parents were informed that treatment consisted of lung transplantation The patient is stil being followed up in the outpatient clinic of pediatric cardiology and lung diseases Conclusively history and physical examination findings should be evaluated carefully in patients with central cyanosis and nodular lesions in the lung AVM should be investigated using contrast enhanced radiologic studies in internal organs if necessary and the diagnosis of Osler Weber Rendu syndrome should be excluded References 1 Shovlin CL Guttmacher AE Buscarini E Faughnan ME Hyland RH Westermann CJ Kjeldsen AD Plauchu H Diagnostic criteria for hereditary hemorrhagic telangiectasia Rendu Osler Weber syndrome Am J Med Genet 2000; 91: 66 67 2 Begbie ME Wallace GM Sholvin CL Hereditary hemorrhagic telangiectasia Osler Weber Rendu syndrome : a view from the 21st century Postgrad Med J 2003; 79: 18 24 3 Sharathkumar AA Shapiro A Hereditary haemorrhagic telangiectasia Haemophilia 2008; 14: 1269 1280 4 Faughnan ME Palda VA Garcia Tsao G Geisthoff UW McDonald J Proctor DD Spears J Brown DH Buscarini E Chesnutt MS Cottin V Ganguly A Gossage JR Guttmacher AE Hyland RH Kennedy SJ Korzenik J Mager JJ Ozanne AP Piccirillo JF Picus D Plauchu H Porteous ME Pyeritz RE Ross DA Sabba C Swanson K Terry P Wallace MC Westermann CJ White RI Young LH Zarrabeitia R HHT Foundation International Guidelines Working Group International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia J Med Genet 2011; 48: 73 87 5 Guttmacher AE Marchuk DA White RI Jr Hereditary hemorrhagic telangiectasia N Engl J Med 1995; 333: 918 924 6 Assar Os Friedman CM White RI Jr The natural history of epistaxis in hereditary hemorrhagic telangiectasia Laryngoscope 1991; 101: 977 980 7 Pau H Carney AS Murty GE Hereditary haemorrhagic telangiectasia Osler Weber Rendu syndrome : otorhinolaryngological manifestations Clin Otolaryngol Allied Sci 2001; 26: 93 98 8 Plauchu H de Chadar eacute;vian JP Bideau A Robert JM Age related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population Am J Med Genet 1989; 32: 291 297 9 Ingrosso M Sabb agrave; C Pisani A Principi M Gallitelli M Cirulli A Francavilla A Evidence of small bowel involvement in hereditary hemorrhagic telangiectasia: a capsule endoscopic study Endoscopy 2004; 36: 1074 1079 10 Vase P Holm M Arendrup H Pulmonary arteriovenous fistulas in hereditary hemorrhagic telangiectasia Acta Med Scand 1985; 218 1 : 105 109 11 Fulbright RK Chaloupka JC Putman CM Sze GK Merriam MM Lee GK Fayad PB Awad IA White RI Jr MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations AJNR Am J Neuroradiol 1998; 19: 477 484 12 Garcia Tsao G Liver involvement in hereditary hemorrhagic telangiectasia HHT J Hepatol 2007; 46: 499 507 13 Cottin V Plauchu H Bayle JY Barthelet M Revel D Cordier JF Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia Am J Respir Crit Care Med 2004; 169: 994 1000 14 Cottin V Dupuis Girod S Lesca G Cordier JF Pulmonary vascular manifestations of hereditary hemorrhagic telangiectasia Rendu Osler disease Respiration 2007; 74 4 : 361 378 15 Jaskolka J Wu L Chan RP Faughnan ME Imaging of hereditary hemorrhagic telangiectasia AJR Am Roentgenol 2004;183: 307 314
Anahtar Kelimeler
Öz
Beş yaş dört aylık kız hasta başka bir hastaneye yaklaşık iki aydan bu yana fark edilen el ve ayak parmak uçlarında kalınlaşma ve morarma yakınmasıyla başvurmuş. Akciğer grafisinde ve toraks tomografisinde akciğerde değişik boyutta ve yerleşimde çok sayıda nodüler lezyon saptanması nedeniyle malinite ön tanısıyla ileri tetkik ve tedavi amaçlı kliniğimize yönlendirilmiş. Öz geçmişinde seyrek burun kanamasından başka özellik yokmuş. Başvurusundaki fizik muayenesinde; genel durumu iyi, şuur açık, koopere, ağırlık ve boy 25-50 persantil arasında, dil, dudaklar ve ağız mukozası ve parmak uçları siyanoze imiş. İlaveten parmak uçlarında çomaklaşma varmış. Yüzde telanjiektaziler saptanmış. Solunum sistemi muayenesinde özellik yokmuş. Kalp tepe atımı 130/dak ve TA 90/70 mm/Hg olarak saptanmış. Dinlemekle kalple ilgili patoloji saptanmamış. Sindirim ve nörolojik sistemler normalmiş.
Anahtar Kelimeler
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Ayın Olgusu |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Aralık 2012 |
| Yayımlandığı Sayı | Yıl 2012 Cilt: 47 Sayı: 4 |