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Editor,—Primary yolk sac tumour of the mediastinum is a rare germ cell tumour. Sporadic case reports document the presenting features of chest pain, cough, shortness of breath, and superior vena cava syndrome. To our knowledge, this is the first case to present with Horner's syndrome.
A 23 year old man was referred with anisocoria. For 3 months the left pupil had been noted to be smaller than the right although the patient reported it enlarged significantly after he took amphetamine tablets. Medical history was unremarkable apart from the recent onset of hip and shoulder pain for which he had been referred to a rheumatologist.
Examination revealed a mild left ptosis in addition to the anisocoria and a diagnosis of Horner's syndrome was made. The history of pupillary dilatation following ingestion of amphetamine tablets indicated a preganglionic lesion and closer questioning elicited the presence of a mass on the left anterior chest wall which had been enlarging painlessly over the preceding 5 months. There were no associated chest symptoms.
A subsequent computed tomograph (CT) scan demonstrated a mass over the left second rib (Fig 1), bilateral adrenal masses, extensive liver metastases, and enlarged supraclavicular nodes around the sympathetic chain. Biopsy of the right adrenal mass showed tumour composed of cells arranged predominantly in glandular formations. The tumour cells showed positive immunohistochemical staining for α fetoprotein, carcinoembryonic antigen, and cytokeratin (CAM), consistent with a diagnosis of metastatic germ cell tumour containing yolk sac elements. This diagnosis was supported by a grossly elevated serum α fetoprotein of 29 340 (N <10 ng/ml) ng/ml and normal serum β human chorionic gonadotrophin. The patient therefore underwent combination chemotherapy (bleomycin, etoposide, cisplatin) directed at a germ cell aetiology.
Yolk sac tumour of the anterior mediastinum is a rare highly malignant tumour believed to arise from germ cells arrested during migration.1 Most patients are young men, the majority presenting with non-specific chest symptoms.2 Serum α fetoprotein is nearly always markedly elevated,3 with histological examination showing characteristic Schiller–Duval bodies. Early diagnosis provides the best chance of prolonging survival. Many have extensive spread however and prognosis in advanced cases remains poor in spite of modern chemotherapy.
The presence of an isolated preganglionic Horner's syndrome in any patient necessitates radiological investigation of the pulmonary apex and chest. Pain in the shoulder or arm, as in this case, is typical of lesions in this area.