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Fahr's disease
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  1. Anuradha Mookerjee1,
  2. Anita Mehta2,
  3. Udit Chaddha3,
  4. Shivang Desai4
  1. 1Department of Medicine, Cooper University Hospital, Moorestown, New Jersey, USA
  2. 2Department of Medicine, GMC, Kolhapur, Maharashtra, India
  3. 3Department of Medicine, University of Louisville, Louisville, Kentucky, USA
  4. 4Department of Radiodiagnosis, Padmashree Dr D Y Patil Univeristy, Mumbai, Maharashtra, India
  1. Correspondence to Dr Anuradha Mookerjee, mookerjee-anuradha{at}cooperhealth.edu

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Description

An 18-year-old girl with a history of hypocalcaemic seizure disorder, diagnosed at 14 years, refractory to treatment with phenytoin, phenobarbital and valproate, presented with three new episodes of generalised tonic–clonic seizures. In addition to some cognitive impairment, on examination she had a positive Trousseau sign (flexion of the wrist and metacarpophalangeal joints when blood pressure cuff if inflated above the systolic blood pressure), and brisk reflexes with ankle clonus. Laboratory studies revealed calcium 6.5 mg/dL (8.5–10.5 mg/dL), phosphorus 6.5 mg/dL (3–4.5 mg/dL), parathyroid hormone 134 pg/dL (17–70 pg/dL) and 25-hydroxyl vitamin D 32 ng/dL (30–65 ng/dL). CT of the brain revealed bilateral symmetrical calcification of …

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