We present a case of Parameningeal Embryonal Rhabdomyosarcoma with the primary lesion arising in the middle and inner ear, with associated diffuse skeletal metastases and metastatic calcifications.
A 1-year 5-month-old boy presented to the casualty department at Kalafong Hospital with diarrhoea, coughing, fever and weight loss. On examination he was found to be anaemic, peripherally cyanotic and had clubbing of his fingers. On auscultation there were crepitations in the right axilla and a pansystolic murmur over the entire chest. He had a pulse rate of 170/min, a respiratory rate of 44/min and the oxygen saturation at room air was 60 -70% and on 100% oxygen, 60 -80%. On the chest radiograph (CXR) a right middle and lower lobe consolidation was noted (Fig. 1). The diagnosis of multi-lobar pneumonia was made, and intravenous antibiotics were commenced. Follow-up radiographs were done which showed no change within a period of 1 week. On echocardiography a mild tricuspid incompetence was found, which did not explain the loud pansystolic murmur. On re-examination a separate murmur was heard over the anterior fontanelle.Computed tomography (CT) examination of the brain with intravenous contrast revealed multiple arteriovenous malformations (AVMs), predominantly involving the left cerebral hemisphere and thalamic region (Fig. 2). On magnetic resonance imaging (MRI) multiple tightly packed masses of flow voids were found (Figs 3 and 4). CT examination of the chest was also done which revealed a large right pulmonary AVM (Fig. 5).
Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis or meningofacial angiomatosis, is characterised in its classical form by a congenital, usually unilateral, ‘portwine stain’ (capillary naevus) on the face, convulsions, typical intracranial calcification and some degree of mental retardation and hemiparesis. The clinical correlation of intractable seizures with the presence of bilateral intracranial disease has management and prognostic implications, thus making the presence of bilateral disease an important factor to all those involved in the management of the child with Sturge-Weber syndrome.
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