Phakomatosis pigmentovascularis presenting with ischaemic stroke

A woman in her late 40s presented to the emergency department with a sudden onset of left hemiparesis and left hemihypesthesia. Neurological examination revealed decreased muscle strength and decreased pinprick sensation over her left-sided body. CT and MRI of the brain demonstrated evidence of acute infarction involving the right centrum semiovale and the superior part of the right corona radiata. CT angiography of the brain and neck revealed no atherosclerotic changes or significant stenosis in the large intracranial and extracranial arteries. The National Institutes of Health Stroke Scale was 3. She was diagnosed with acute ischaemic stroke and admitted to the stroke unit. Dual antiplatelets were initially prescribed according to the CHANCE study. Concurrently, she exhibited characteristic cutaneous manifestations of dermal melanosis over both cheeks and forehead with port-wine stain over her face and upper trunk, prompting suspicion of phakomatosis pigmentovascularis type IIb. After the completion of standard ischaemic stroke treatment, she has recovered and is currently under the outpatient follow-up.