Fahr’s disease is a rare neurological disorder characterized by diffuse intracranial calcification with a prevalent involvement of the basal ganglia and dentate nucleus of the cerebellum. It has been reported to be an autosomal dominant inheritance in familial cases, although the causal gene is still unknown, and sporadic types have been described. Most cases initially present with a deterioration of motor function. Later in the development of the disease, other symptoms and signs occur, especially extrapyramidal symptoms. We report a case with an unusual presentation and no extrapyramidal signs: An 58-year-old woman was brought to the Emergency Department (ED) because of a sudden loss of consciousness with seizure and urinary incontinence. She denied chest or abdominal pain, nausea vomiting or diarrhea. Upon falling from the seizure, she sustained cranial trauma (frontal skull). She denied any past medication history, allergies to medications, chest or abdominal pain, nausea, vomiting or diarrhea. There was no family history of mental illness, dementia, or major physical illness.
Fahr's disease detected on a head CT scan in patient with "epileptic syncope" in the Emergency Department / Alberto, Sentimentale; Marco, Matteoli; Morena, Giovannelli; Chiara De, Dominicis; Massimiliano, Corsino; Ferri, Enrico; DI SOMMA, Salvatore. - In: INTERNAL AND EMERGENCY MEDICINE. - ISSN 1828-0447. - 5:(2010), pp. 263-265. [10.1007/s11739-009-0341-5]
Fahr's disease detected on a head CT scan in patient with "epileptic syncope" in the Emergency Department.
FERRI, Enrico;DI SOMMA, Salvatore
2010
Abstract
Fahr’s disease is a rare neurological disorder characterized by diffuse intracranial calcification with a prevalent involvement of the basal ganglia and dentate nucleus of the cerebellum. It has been reported to be an autosomal dominant inheritance in familial cases, although the causal gene is still unknown, and sporadic types have been described. Most cases initially present with a deterioration of motor function. Later in the development of the disease, other symptoms and signs occur, especially extrapyramidal symptoms. We report a case with an unusual presentation and no extrapyramidal signs: An 58-year-old woman was brought to the Emergency Department (ED) because of a sudden loss of consciousness with seizure and urinary incontinence. She denied chest or abdominal pain, nausea vomiting or diarrhea. Upon falling from the seizure, she sustained cranial trauma (frontal skull). She denied any past medication history, allergies to medications, chest or abdominal pain, nausea, vomiting or diarrhea. There was no family history of mental illness, dementia, or major physical illness.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.