Rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Also known as Lowe syndrome X-linked recessive inheritance Presentation Classical triad: Dense congenital bilateral cataract (hallmark feature) Severe intellectual impairment Renal tubular dysfunction with slowly progressive renal failure Other features: Postnatal growth retardation independent of kidney function…
Category: Internal Medicine
Motor neuron disease (MND) is a spectrum of neurodegenerative disorders that selectively affect motor neurons.