Allgrove syndrome with prominent neurological symptoms. Case Report.
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 Neurology, Hospital Na Homolce, Prague, Czech Republic.
Martin
M
Jerie
Department of Neurology, Hospital Na Homolce, Prague, Czech Republic.
Zdenek
Z
Vojtech
Department of Radiology, Na Homolce Hospital, Prague, Czech Republic.
Hana
H
Malikova
Department of Ophtalmology, Na Homolce Hospital, Prague, Czech Republic.
Sylva
S
Prochazkova
Department of Hepatogastroenterology, Institute for Clinical and Experimental Medicine, Czech Republic.
Zuzana
Z
Vackova
Centogene AG, Rostock, Germany.
Arndt
A
Rolfs
D000309:Adrenal Insufficiency / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D003131:Combined Modality Therapy; D004576:Electromyography; D004931:Esophageal Achalasia / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005531:Foot Deformities, Acquired / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009422:Nervous System Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D009460:Neurologic Examination