Fahr’s disease detected on a head CT scan in patient with “epileptic syncope” in the Emergency Department

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. Prior to the present illness, she had been living independently. On physical examination, the patient was a healthy appearing woman who was 155 cm tall, and weighed 49 kg. The vital signs were: blood pressure 140/85 mmHg, pulse 70 beats/min, respirations 12 breaths/min, temperature 37 C. The general physical examination other than the skull contusion was unremarkable. Neurological examination revealed cerebellar ataxia (antagonist hypotonia, asynergy, dismetria and dysdiadochokinesia); there were no extrapyramidal signs, athetosis or dementia; normal cranial nerve functions, and no motor or sensory focal findings. A laboratory screening panel was normal including calcium (8.9 mg/dL) and phosphate (3.1 mg/dL). Because of the new onset seizure activity, a non-contrast head computed tomography (CT scan) was obtained, and revealed extensive and symmetrical hyper-dense lesions over the caudate, dentate nuclei and periventricular white substance (Figs. 1, 2). The patient was admitted to the medicine ward, where other examinations were performed. Routine laboratory investigation confirmed that calcium and phosphate ions were in normal range; also normal were other tests including inflammation indices and coagulation tests. An electroencephalogram (EEG) revealed a normal pattern. Imaging diagnostic procedures gave no evidence of radiographic cardiopulmonary lesions, and there were no tumors of bone or other organs. Magnetic resonance imaging of the head revealed multiple areas of modified intensity signal, hyper-intense in T2, softly hyper-intense in T1 calibrated images and hypointense using the echo gradient technique, localized into peri-ventricular area, semi-oval centers, basal nuclei and cerebellum dentate nucleus. A. Sentimentale (&) M. Matteoli M. Corsino E. Ferri S. Di Somma Department of Emergency Medicine, II Medical School University La Sapienza, Sant’Andrea Hospital, Via di Grottarossa 1035-1039, 00189 Rome, Italy e-mail: alberto.sentimentale@ospedalesantandrea.it