of neurological abnormalities the diagnosis went unrecog- nised for years until the patient presented for evaluation of dysphagia. The presence of achalasia with dysphagia, adrenal insufficiency, reduced tear production, optic atro- phy 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 investiga- tions along with a multidisciplinary approach. Key words Allgrove syndrome • ALADIN • Oesophageal achalasia Introduction Allgrove syndrome (OMIM 231550), also known as triple- A or 4A syndrome, is a rare autosomal recessive disorder with usual onset in childhood characterised by alacrima, achalasia, adrenal insufficiency, neurological disturbances and occasionally autonomic instability [1]. To date about 100 cases of Allgrove syndrome have been reported world- wide showing a considerable variability in disease severity and clinical manifestations. In most cases the disease first manifested in childhood with alacrima accompanied in 75% of the patients by achalasia [2]. Adrenal insufficiency usually begins after dysphagia and develops gradually over the first decade of life [3]. Neurological disturbances have a progressive course, and may affect the central, peripheral and autonomic nervous system showing heterogeneous and widely varying manifestations [1, 4, 5]. Homozygous or compound heterozygous mutations have been identified in the ALADIN gene which maps to chromosome 12q13 [6]. ALADIN encodes for a protein expressed in neuroen- docrine, gastric and cerebral structures [1]. The disease Neurol Sci (2007) 28:331–335 DOI 10.1007/s10072-007-0848-3 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 Case report of adult-onset Allgrove syndrome ORIGINAL Received: 6 July 2007 / Accepted: 9 November 2007 Abstract Allgrove syndrome is a rare autosomal recessive disorder characterised by childhood onset, alacrima, oesophageal achalasia, adrenocortical insufficiency, neu- rological and occasionally autonomic involvement. Although the disease has been associated with mutations in the ALADIN gene on chromosome 12q13, it is geneti- cally heterogeneous. The case we report is interesting because of its onset in adulthood, long duration of disease and prominent neurological dysfunctions. After the onset F. Gilio • S. Di Rezze • A. Conte • V. Frasca • E. Iacovelli C. Marini Bettolo • M. Gabriele • E. Giacomelli • M. Prencipe M. Inghilleri () Department of Neurological Sciences University of Rome “Sapienza” Viale dell’Università 30 I-00185 Rome, Italy e-mail: maurizio.inghilleri@uniroma1.it C. Pirro • F. Fattapposta Department of Neurological Sciences and ORL University of Rome “Sapienza” Rome, Italy F.I. Habib Department of Clinical Science University of Rome “Sapienza” Rome, Italy A. Conte Neuromed Institute University of Rome “Sapienza” Pozzilli (IS), Italy A. Pizzuti CSS Hospital IRCCS, S. Giovanni Rotondo and CSS-Mendel Institute Rome, Italy