Doctor Bharat Pokhrel 🇳🇵 over 5 years ago

When young patients present with signs and symptoms of a stroke, along with a history of skin lesions, renal insufficiency or failure, and heart attacks, what do you suspect as your diagnosis ? Also in this condition at an early phase there is Triad of 1. Peripheral Neuropathy (episodic) 2. Angiokeratomas and 3. Hypohidrosis Similarly in Late phase Progressive renal failure Cardiovascular disease Enzyme deficiency: Alpha Galactosidase A And an X linked recessive disorder