X linked bulbospinal neuropathy

Due to CAG triplet expansion in androgen receptor on X chromosome

Causes a Parkinson like syndrome

Features

• Bulbar weakness
• LMN limb girdle signs
• Gynaecomastia
• Postural tremor
• Facial fasciculations

Mitochondrial disorder

Features

External opthalmoplegia

Ptosis

Heart block

Retinitis Pigmentosa

Diabetes

Short stature

Acute vasculitis of medium sized vessels, or mucocutaneous lymph node syndrome
Tends to affect children < 5
More common in Japan

? related to Staph. or Strep. illness

Features

• Fever for more than 5 days
  
• Conjunctival congestion
  
• Dry lips/ mouth
  
• Cervical Lymphadenopathy
  
• Polymorphic rash
  
• Red and oedematous palms
  
• Strawberry tongue
  
• Coronary artery aneurysms

Pericarditis and carditis with T wave inversion
Diarrhoea
Albuminuria
Arthralgia

Inestigations

­ CRP
­ Leucocytes
­ platelets

All need TOE if ECG abnormal;

Management

Intravenous Immunoglobulin to prevent aneurysms
Aspirin in high doses

Mortality is 30% untreated but 1% if treated

Primary renal retention of sodium

Lead to hypertension and volume expansion

Low renin

Low Aldosterone

Low urinary sodium (N=100-150 mol in 24 hours)

Hyperkalaemia

Acidosis 

(essentially the ‘opposite’ of Bartter’s syndrome)