We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, recurrent vomiting and dysphagia due to achalasia, severe hypoglycemic seizures and shock due to adrenal insufficiency. Neurological symptoms such as hyperreflexia, dysarthria, hypernasal speech, ataxia, sensory impairment, muscle weakness, and mental retardation are extremely slow to develop and manifest at a later age. Diagnosis was based on clinical presentation and laboratory findings. She is the first patient from the Czech Republic with genetic confirmation of Allgrove syndrome. This patient is one of about 100 cases described in the literature and one of the few patients with all the main typical clinical features.

Centogene AG Rostock Germany

Department of Hepatogastroenterology Institute for Clinical and Experimental Medicine Czech Republic

Department of Neurology Hospital Na Homolce Prague Czech Republic

Department of Ophtalmology Na Homolce Hospital Prague Czech Republic

Department of Radiology Na Homolce Hospital Prague Czech Republic

Prevalence of neurodegenerative/demyelinating disorders in patients with achalasia