Document Detail

Case report of adult-onset Allgrove syndrome.
MedLine Citation:
PMID:  18175081     Owner:  NLM     Status:  MEDLINE    
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.
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; M Inghilleri
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-01-04
Journal Detail:
Title:  Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology     Volume:  28     ISSN:  1590-1874     ISO Abbreviation:  Neurol. Sci.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2008-02-18     Completed Date:  2008-06-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100959175     Medline TA:  Neurol Sci     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  331-5     Citation Subset:  IM    
Department of Neurological Sciences, University of Rome ''Sapienza'', Viale dell'Università 30, I-00185, Rome, Italy.
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MeSH Terms
Adrenal Insufficiency / complications,  genetics*
Chromosome Disorders / complications,  genetics*
Chromosomes, Human, Pair 12*
Dry Eye Syndromes / etiology
Esophageal Achalasia / complications,  genetics*
Genes, Recessive
Nerve Tissue Proteins / genetics*
Nuclear Pore Complex Proteins / genetics*
Reg. No./Substance:
0/AAAS protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Pore Complex Proteins

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