HCA Healthcare Graduate Medical Education 2023 Research Days
Electrolyte Abnormalities and Seizure Like Activity Unmasking an Underlying Rare Genetic Disorder
Riddhiben Patel
Andrew Cushing
Amnah Andrabi
Sathish Karmegam
HCA Healthcare
04-28-2023
Fahr's syndrome, or idiopathic basal ganglia calcification, is a rare neurological disorder that runs in families as an autosomal dominant trait. It is associated with a variety of other diseases, esp..
more »Fahr's syndrome, or idiopathic basal ganglia calcification, is a rare neurological disorder that runs in families as an autosomal dominant trait. It is associated with a variety of other diseases, especially Parkinson’s disease, but the etiology remains a mystery. On imaging, it presents as abnormal calcium deposits found primarily in the basal ganglia and cerebral cortex, both of which are areas responsible for controlling movement. A 73-year old woman with a past medical history of hypertension and seizures presented to the emergency department due to altered mental status. The patient was indulged in a conversation with her daughter when all of a sudden, she became silent. Within a few seconds she became very stiff with arms extended, her head turned towards the left, and her eyes rolled towards the back of her head. After unsuccessful re-orientation, EMS was called and upon awakening she became postictal, lethargic, confused, disoriented, and nonverbal. Her only further complaint is that she felt numbness to her lower and upper extremities. On further questioning it was revealed that about 20 years ago, the patient was advised to take medication for hypocalcemia, but was non-compliant. Initial lab findings revealed critically low calcium and parathyroid hormone levels, and normal vitamin D levels. Computed Tomography (CT) head/brain revealed extensive intracranial calcification and mineralization. Subsequently, Magnetic Resonance Imaging of head/brain was completed and revealed bilateral basal ganglia, thalami, and cerebellar abnormal signals corresponding to calcifications seen on CT scan. Electroencephalography revealed some bifrontal fast activity which constitutes a characteristic electrophysiological pattern in focal seizures of human epilepsy. Based on the workup, it was suggested that these findings are concerning for Fahr’s syndrome, which is secondary to underlying hypoparathyroidism. When the electrolyte abnormalities were corrected and patient returned to baseline, she was determined stable for discharge. At discharge, the patient was continued on calcium and Vitamin D supplements, and Levetiracetam 500mg twice daily for seizure prophylaxis. She was also advised to see an endocrinologist for further management of her hypoparathyroidism. This case illustrates that a rare disorder like Fahr’s syndrome has a similar presentation to various other neurological diseases but no etiological agent has been established. To reduce the loss of functionality associated with the condition, new therapeutic approaches must be identified and implemented. Additionally, it is critical to stress the importance of genetic counseling for known at-risk parents before to conception.
Poster
North Texas
Medical City Arlington
HCA Healthcare Graduate Medical Education
Resident/Fellow
Internal Medicine
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Diseases
Internal Medicine
Medical Specialties
Medicine and Health Sciences
Nervous System Diseases
Neurology
HCA Healthcare
medical city arlington