Case report of adult-onset Allgrove syndrome.
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.
Gilio
F
F
Department of Neurological Sciences, University of Rome ''Sapienza'', Viale dell'Università 30, I-00185, Rome, Italy.
Di Rezze
S
S
Conte
A
A
Frasca
V
V
Iacovelli
E
E
Marini Bettolo
C
C
Gabriele
M
M
Giacomelli
E
E
Pizzuti
A
A
Pirro
C
C
Fattapposta
F
F
Habib
F I
FI
Prencipe
M
M
Inghilleri
M
M
D000309:Adrenal Insufficiency / Q000150:complications / Q000235:genetics*; D000328:Adult; D025063:Chromosome Disorders / Q000150:complications / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12; D015352:Dry Eye Syndromes / Q000209:etiology; D004931:Esophageal Achalasia / Q000150:complications / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins