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Endocrine Abstracts (2024) 99 EP773 | DOI: 10.1530/endoabs.99.EP773

Cairo University, Internal medicine, endocrinology, Cairo, Egypt


Introduction: Fahr’s disease, is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia with a prevalence of <1/1 000 000

Case report: A 15-year-old male presented with focal seizures in right upper and lower limbs that progressed to generalized tonic clonic seizure and status epilepticus. No history of head trauma, central nervous system infection, stroke, hypertension, diabetes, or autoimmune disease No family history of epilepsy He had recurrent episodes of focal seizures since the age of 10. EEG showed epileptiform waves, antiepileptic drug were started The patient was admitted to ICU with status epilepticus sedated on midazolam infusion, intubated and mechanically ventilated Pulse: 90/min, Bp: 100/70, RR: 18/min, Temperature: 37c (Hb) 13.4 g/dl, white blood cell count (WBC) 17.4 u/l; platelet 300 u/l, glucose 111 mg/dl (AST) 108 U/l; (ALT) 38 U/l U/l, creatinine 1.3 mg/dl; potassium 3.5 mmol/l; calcium 3.3 mg/dl; phosphorus 6.3 mg/dl; magnesium, 2.2 mg/dl (1.9–3.1 mg/dl); parathormone (PTH) 2.1 pg/dl (15–65 pg/dl); 25-OH vitamin D3 14.4 ng/ml (8.0–51.9 ng/ml); ANCA negative CT brain showed extensive bilateral cerebral calcification The patient received, calcium IV infusion (rate 0.5 mg/kg/h) for 24 h, antiepileptics (Levetiracetam 500 mg twice daily. Discharged on, oral medication started. Calcium Carbonate 600 mg 3 times daily oral Cholecalciferol) one bottle weekly Upon discharge calcium: 6.2 mg/dl, with no recurrent convulsions

Conclusion : We report a case of Fahr’s syndrome with hypoparathyroidism in a patient with seizures as the main symptom. suspected by symmetrical and abnormal cerebral calcification

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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