Article Text
PDFNeurological rarities
Allgrove syndrome with amyotrophy
Abstract
Allgrove syndrome is an autosomal recessive disease mostly caused by mutations in the AAAS gene. It has variable clinical features but its cardinal features comprise the triad of achalasia, alacrimia and adrenal insufficiency. It typically develops during the first decade of life, but some cases have second and third decades onset. We describe a 25-year-old woman with Allgrove syndrome who had progressive amyotrophy, achalasia, dry eyes and adrenal insufficiency since childhood. Awareness of its neurological manifestations and multisystem features helps to shorten the time for diagnosis and allow appropriate symptomatic treatment.
- neurogenetics
- neuropathy
- muscle disease
Statistics from Altmetric.com
Read the full text or download the PDF:
Other content recommended for you
- Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease
- Triple A syndrome: two novel mutations in the AAAS gene
- A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
- Late onset adrenal insufficiency and achalasia in Allgrove syndrome
- Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation
- Peripheral neuropathy in complex inherited diseases: an approach to diagnosis
- The use of punctal plugs in children
- Recognising facial onset sensory motor neuronopathy syndrome: insight from six new cases
- Split hand and motor axonal hyperexcitability in spinal and bulbar muscular atrophy
- Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies