Allgrove syndrome with prominent neurological symptoms. Case Report
Language English Country Sweden Media print
Document type Case Reports, Journal Article
PubMed
27618595
PII: NEL370316C02
Knihovny.cz E-resources
- MeSH
- Esophageal Achalasia diagnostic imaging genetics physiopathology MeSH
- Adrenal Insufficiency diagnostic imaging genetics physiopathology MeSH
- Adult MeSH
- Electromyography MeSH
- Combined Modality Therapy MeSH
- Humans MeSH
- Magnetic Resonance Imaging MeSH
- Brain diagnostic imaging pathology MeSH
- Nervous System Diseases diagnostic imaging genetics physiopathology MeSH
- Neurologic Examination MeSH
- Foot Deformities, Acquired pathology MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
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.
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
