Fahr syndrome

Case contributed by Eduardo Torres
Diagnosis certain


Myalgia, muscle spasms, seizures, chest pain and anxiety. ECG shows prolonged QT and low calcium, low PTH and high phosphate.

Patient Data

Age: 13 years
Gender: Male

CT shows bilateral thick calcifications at the frontoparietal gray/white matter junction, as well as in both lenticular nuclei and thalamus.


On MRI, calcifications are less evident, only those located at gray/white matter junction can be seen in the SWI images. The T1-weighted images show hyperintense foci at the level of the lenticular nuclei and thalamus, this has been explained by some authors due to a shortening effect of the T1 relaxation time of the hydrogen protons adjacent to calcium crystals.

Blood tests

  • low calcium: 4.7 mg/dl (normal range 8.0-10.4 mg/dl)
  • high phosphate: 9.8 mg/dl (normal range 2.5-4.5 mg/ dl)
  • serum albumin: 4.2mg/dl
  • ionized calcium: 0.7 mmol/L
  • normal magnesium: 1.66 mg/dl (normal range 1.3-2.5 mg/dl)
  • low PTH: 2.3 pg/ml (normal range 15-68 pg/ml)
  • Vit D: 30/mg/dl

Case Discussion

The patient was treated with propranolol, calcium and calcitriol, with complete remission of symptoms and gradual resolution of the alterations in serum electrolytes, no causes of secondary hypoparathyroidism were identified at workup; the patient is undergoing a genetic and immunological study protocol. The features are consistent with secondary Fahr syndrome

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