A 55-year-old male of Chinese origin in good health and on no regular medications developed an acute headache and subsequently lost consciousness. On admission he was comatose with a GCS of 5 with no localizing neurological signs. His blood pressure was 136/83mmHg and his vital signs were stable. At this time it was noted that his neck, arms and abdomen were covered with numerous, 'lumps' (Figure 1) and he also had multiple brown patches on his skin (Figure 2). The skin lumps were most likely neurofibromas and the patches were café-au-lait spots, consistent with a diagnosis of neurofibromatosis type 1. He had never sought medical advice for this and there was no previous family history of neurofibromatosis. Additionally, he had no past history or family history of hypertension or neurological disease.
A CT head scan revealed a grade IV subarachnoid haemorrhage with intraventricular blood and dilated ventricles suggestive of hydrocephalus (Figure 3). Extraventricular drainage of cerebrospinal fluid was performed and the patient's GCS improved but he did not regain full speech or mobility.
To further characterise the origin of the bleed and to identify any longstanding changes in cerebral vasculature, cerebral angiograms were performed. The angiogram revealed an underlying diagnosis of moyamoya disease: a disease of cerebral vasculature, and one that has a rare association with neurofibromatosis [1].
Cerebral angiography demonstrated intracranial occlusion of the internal carotid arteries (Figure 4), a hallmark of moyamoya disease. Due to the stenosed internal carotid arteries, blood supply to the anterior cerebral arteries was dependent upon collateral vessels (Figure 5). Supply to the middle cerebral arteries originated from the basilar artery, and furthermore, occlusion in and around the circle of Willis had led to the formation of hypertrophied basal perforator vessels, known as moyamoya vessels (Figure 6). It was likely that the subarachnoid haemorrhage occurred secondary to rupture of a fragile perforator vessel. In summary, the angiograms demonstrated a diagnosis of moyamoya disease, which has a rare association with neurofibromatosis [1].
No further neurosurgical options were possible and the patient remains dependent for all care. He is undergoing neurosurgical rehabilitation in a specialized facility.