Case report of adult-onset Allgrove syndrome

F. Gilio, S. Di Rezze, A. Conte, V. Frasca, E. Iacovelli, C. Marini Bettolo, M. Gabriele, E. Giacomelli, A. Pizzuti, C. Pirro, F. Fattapposta, F. I. Habib, M. Prencipe, Maurizio Inghilleri

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Allgrove syndrome is a rare autosomal recessive disorder characterised by childhood onset, alacrima, oesophageal achalasia, adrenocortical insufficiency, neurological and occasionally autonomic involvement. Although the disease has been associated with mutations in the ALADIN gene on chromosome 12q13, it is genetically heterogeneous. The case we report is interesting because of its onset in adulthood, long duration of disease and prominent neurological dysfunctions. After the onset of neurological abnormalities the diagnosis went unrecognised for years until the patient presented for evaluation of dysphagia. The presence of achalasia with dysphagia, adrenal insufficiency, reduced tear production, optic atrophy and peripheral motor-sensory neuropathy with axonal loss led us to clinically diagnose Allgrove syndrome even though a genetic study showed no mutations in the ALADIN gene exons. The case we report shares many clinical features with Allgrove syndrome and, even with the limitations of a single case, underlines the variability in this syndrome and the need for appropriate investigations along with a multidisciplinary approach.

Original languageEnglish
Pages (from-to)331-335
Number of pages5
JournalNeurological Sciences
Volume28
Issue number6
DOIs
Publication statusPublished - Sep 2007

Fingerprint

Esophageal Achalasia
Deglutition Disorders
Optic Atrophy
Adrenal Insufficiency
Mutation
Tears
Genes
Exons
Chromosomes
Achalasia Addisonianism Alacrimia syndrome
Alacrima

Keywords

  • ALADIN
  • Allgrove syndrome
  • Oesophageal achalasia

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Gilio, F., Di Rezze, S., Conte, A., Frasca, V., Iacovelli, E., Marini Bettolo, C., ... Inghilleri, M. (2007). Case report of adult-onset Allgrove syndrome. Neurological Sciences, 28(6), 331-335. https://doi.org/10.1007/s10072-007-0848-3

Case report of adult-onset Allgrove syndrome. / Gilio, F.; Di Rezze, S.; Conte, A.; Frasca, V.; Iacovelli, E.; Marini Bettolo, C.; Gabriele, M.; Giacomelli, E.; Pizzuti, A.; Pirro, C.; Fattapposta, F.; Habib, F. I.; Prencipe, M.; Inghilleri, Maurizio.

In: Neurological Sciences, Vol. 28, No. 6, 09.2007, p. 331-335.

Research output: Contribution to journalArticle

Gilio, F, Di Rezze, S, Conte, A, Frasca, V, Iacovelli, E, Marini Bettolo, C, Gabriele, M, Giacomelli, E, Pizzuti, A, Pirro, C, Fattapposta, F, Habib, FI, Prencipe, M & Inghilleri, M 2007, 'Case report of adult-onset Allgrove syndrome', Neurological Sciences, vol. 28, no. 6, pp. 331-335. https://doi.org/10.1007/s10072-007-0848-3
Gilio F, Di Rezze S, Conte A, Frasca V, Iacovelli E, Marini Bettolo C et al. Case report of adult-onset Allgrove syndrome. Neurological Sciences. 2007 Sep;28(6):331-335. https://doi.org/10.1007/s10072-007-0848-3
Gilio, F. ; Di Rezze, S. ; Conte, A. ; Frasca, V. ; Iacovelli, E. ; Marini Bettolo, C. ; Gabriele, M. ; Giacomelli, E. ; Pizzuti, A. ; Pirro, C. ; Fattapposta, F. ; Habib, F. I. ; Prencipe, M. ; Inghilleri, Maurizio. / Case report of adult-onset Allgrove syndrome. In: Neurological Sciences. 2007 ; Vol. 28, No. 6. pp. 331-335.
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