Allgrove syndrome
Evidence-based neurology checklist on allgrove syndrome: Pathology and genetics This is an anterior horn cell disorder that usually manifests in childhood 90% of cases are caused by mutations in the AAAS gene on chromosome 12 The gene encodes ALADIN polypeptide The transmission is autosomal…
Pathology and genetics
- This is an anterior horn cell disorder that usually manifests in childhood
- 90% of cases are caused by mutations in the AAAS gene on chromosome 12
- The gene encodes ALADIN polypeptide
- The transmission is autosomal recessive
Classical triad or tetrad
Main neurological features
Other neurological features
Systemic features
Differential diagnosis
Investigations
Treatment
Synonym
Acronym
References
- Gupta J, Chowdhury SR, Jauhari P, et al. Child Neurology: Allgrove syndrome: an intriguing etiology of motor neuron disease in children. Neurology 2024; 102:e208049.
- Vigano' M, Mantero V, Basilico P, et al. Don't forget Allgrove syndrome in adult patients as a bulbar-ALS mimicker. Neurol Sci 2023; 44:3703-3705.
- Bitetto G, Lopez G, Ronchi D, et al. SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome. Orphanet J Rare Dis 2023; 18:152.
- Naseer A, Salih HA, Bhat S, Honnani SS. A rare case of Allgrove syndrome. Indian J Pediatr 2024; 91:104.
- Alhalabi M, Alsayd S, Alboushi E. Allgrove syndrome: a case report. Oxf Med Case Reports 2022; 2022:omac104.
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