TY - JOUR T1 - DILATIVE VASCULOPATHY AND CEREBRAL HAEMORRHAGE AS A PRESENTATION OF LATE–ONSET POMPE DISEASE JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - e2 LP - e2 DO - 10.1136/jnnp-2013-306573.77 VL - 84 IS - 11 AU - James Lilleker AU - Mark Roberts AU - Bernard Boothman Y1 - 2013/11/01 UR - http://jnnp.bmj.com/content/84/11/e2.197.abstract N2 - A 51 year old gentleman who had experienced a spontaneous intracerebral haemorrhage was referred for a neurological opinion when the anaesthetists experienced difficulty weaning him from the ventilator on the intensive care unit. On examination there was generalised reduction in facial muscle bulk but with no ptosis. Extraocular movements were full. Examining the limbs and torso, he was very thin, with striking atrophy of the paraspinal muscles, with a degree of anterocollis, bilateral scapular winging, and prominent wasting of the hamstring muscles. Deltoid muscle bulk was relatively preserved. Muscle strength was reduced globally, with no asymmetries. Muscle biopsy of the quadriceps was performed which showed large vacuoles, consistent with acid maltase enzyme deficiency. Subsequent dry blood spot sampling for acid maltase enzyme activity was reduced at 4.49 (normal range 7.3 to 39), consistent with the partial enzyme deficiency often seen in the late–onset form of Pompe disease. Given the reports of smooth muscle involvement and consequent dilative vasculopathy in patients with Pompe disease (1), an MRI brain scan with MR–Angiogram and a CT–Angiogram were performed. These showed marked dilochoectasia of vessels of both the anterior and posterior circulation, however no aneurysmal components were seen. The patient was slowly weaned onto non invasive ventilation which continues. Pulmonary function testing confirmed a ‘restrictive’ type defect with an FEV1 of 54% predicted and a preserved FEV1/FVC ratio. ECG and Echocardiogram was normal. The patient is currently considering enzyme replacement therapy. Conclusion Vasculopathy is an under recognised complication of Pompe disease. The subsequent intracerebral and subarachnoidal heamorrhages can be the presenting feature leading to diagnosis of Pompe disease, despite symptoms of the disease often being present for a number of years previously. With the advent of enzyme replacement which has revolutionised treatment, particularly in paediatric populations, it is important to diagnose this disorder early. Dry blood spot analysis for acid maltase enzyme activity provides a low cost way of screening for Pompe disease which should be considered in any adult patient presenting with a proximal myopathy or unexplained respiratory failure. Given this case and others in the literature, patients found to have a dilative vasculopathy should also be screened for Pompe disease. ER -