Unilateral pulmonary agenesis with ipsilateral facial congenital anomalies in an adult with obstructive airway disease.

Pulmonary agenesis is a rare congenital anomaly which can be isolated or co-exist with other developmental defects. Boyden et al has described three degrees of mal development of lung which include agenesis, hypoplasia and aplasia. Almost all the reported cases are in paediatric age group patients while, adults with pulmonary developmental abnormalities are sparsely documented in the literature. Interestingly, adult with coexisting hemifacial anomaly and pulmonary agenesis has not been reported in the medical literature. Here, we describe a middle-aged female who initially presented with bronchial asthma and her chest radiography showed absent left lung which was later confirmed with enhanced CT imaging. Furthermore, she had ipsilateral hemi facial microsomia, microtia, facial nerve palsy and mixed sensory loss, left side large café au lait patch, splenicule and hemangioma in segment V/VI of the liver.

Ascending aortic aneurysm caused by Mycobacterium tuberculosis.

BACKGROUND: Tuberculous aortitis is an unusual presentation of a common disease in Sri Lanka. There were no reported cases of tuberculous aortitis from Sri Lanka. Here we report a case of a 40-year-old woman who developed an ascending aortic aneurysm with severe aortic regurgitation caused by Mycobacterium tuberculosis. CASE PRESENTATION: A 40-year-old Sri Lankan female who presented with exertional breathlessness (NYHA II) and weight loss for 4 weeks duration was found to have collapsing pulse and early diastolic murmur at left sternal edge. Transthoracic and transesophageal echocardiogram showed ascending aortic aneurysm with severe aortic regurgitation. Computed tomographic aortography confirmed the diagnosis of aneurysmal dilatation of the ascending aorta. She underwent successful aortic valve replacement and aortic root replacement. The final diagnosis of tuberculous aortitis was made on the basis of macroscopic appearance of inflammation and microscopic confirmation of caseating granuloma. She made a good clinical recovery with category 1 antituberculous chemotherapy. CONCLUSIONS: Although most cases of aortitis are non-infectious in Sri Lanka, an infectious etiology must be considered in the differential diagnosis because therapeutic approaches differ widely. Tuberculous aortitis may be under diagnosed in Sri Lanka, a country with intermediate tuberculosis burden, as the histological or microbiological diagnosis is not possible in most cases. The clinical and radiological diagnostic criteria for tuberculous aortitis need to be set out in case of aneurysmal aortic disease in the absence of apparent etiology.

Ortner's syndrome presenting as thoracic aortic aneurysm mimicking thoracic malignancy: a case report.

INTRODUCTION: Ortner's syndrome is defined as left recurrent laryngeal nerve palsy caused by a cardiovascular pathology. Here we report the case of a 68-year-old man who presented to our hospital with hoarseness, whose initial chest imaging mimicked a thoracic neoplastic process with left pleural effusion. The final diagnosis was Ortner's syndrome due to the silent rupture of a thoracoabdominal aortic aneurysm. Diagnostic thoracentesis, before computed tomography, in resource-poor settings, may have resulted in an adverse outcome in our case. CASE PRESENTATION: A 68-year-old Sri Lankan man was referred to us by an otolaryngologist for further evaluation of a suspected thoracic malignancy. His presenting symptom was hoarseness of three months duration. He had essential hypertension for the last four years and had a history of 25 pack-years of cigarettes smoking. His chest X-ray showed a left-sided mediastinal mass with mild to moderate pleural effusion. An ultrasound appeared to show an encysted pleural fluid collection. However, we proceeded with computed tomography before diagnostic thoracentesis. The diagnosis of Ortner's syndrome was made after the computed tomography due to the silent rupture of his thoracoabdominal aortic aneurysm. CONCLUSIONS: Hoarseness due to left recurrent laryngeal nerve palsy can be the presenting symptom of cardiovascular pathologies, Ortner's syndrome. Silent rupture of thoracic aortic aneurysms can mimic that of thoracic malignancy, which is reported in literature. We illustrate the importance of a high degree of suspicion of cardiovascular pathology in order to avoid an adverse outcome following diagnostic thoracentesis.