A 45-year-old man presents with right-sided hemiplegia. On examination, he has red to blue macular-papular lesions over his lower face, buccal mucosa, trunk, back, gluteal region and flexor aspect of thighs. He has had these rashes since he was 13 years old. In addition he says he cannot tolerate heat because he does not sweat and experiences burning sensation in hands and feet. His investigations reveal mild proteinuria, normal blood counts and coagulation profile. His other renal function parameters are normal.
Chest X-ray shows cardiomegaly, ECG is sinus rhythm and echocardiogam reveals concentric ventricular hypertrophy. CT scan confirms ischemic stroke. Ophthalmologic examination reveals nystagmus, diffuse corneal opacities and dilated conjunctival veins. Skin and rectal mucosal biopsy did not reveal any signs of amyloidosis. The biochemistry lab informs absence of leukocyte α-…
