Systemic features | Range of diseases |
Splenomegaly | Niemann-Pick type C, Gaucher |
Tendon xanthomas | CTX |
Paget disease of bone | FTD |
Renal impairment | Fabry disease, Lesch-Nyhan, mitochondrial disease |
Liver dysfunction | Wilson disease, Gaucher disease, mitochondrial disease |
Respiratory failure | FTD with MND, mitochondrial disease, anti-NMDAR encephalitis |
Gastrointestinal dysfunction | Whipple disease |
Anemia | Vitamin B12 deficiency, neuroacanthocytosis, Wilson disease, alcohol |
Urinary incontinence | NPH |
Skin lesions | Systemic vasculitides, Fabry disease |
Hyponatremia | Limbic encephalitis |
Amenorrhea | VWM |
Do you want to add Medilib to your home screen?