Atipik nörolojik bulgular ile seyreden nadir bir hastalık: Fahr Hastalığı

FAHR hastalığı (bilateral striopallidodentat kalsinoz) serebellum, talamus ve bazal ganglionlarda kalsiyum ve fosfor metabolizma bozukluğu sonucu oluşan kalsinozla seyreden, nörodejeneratif bozukluklarla karakterize nadir bir hastalıktır. Beyin tomografisi ile parankimada kalsiyum ve çeşitli minerallerin birikimi gösterilebilir. Bu hastalığın etyolojisi kesin olarak bilinmemekle beraber kalsiyum metabolizma bozuklukları, toksinler, enfeksiyonlar, genetik faktörler, hipoparatiroidizm ve psödohipoparatiroidizm, nedenler arasında gösterilmiştir. Bu yazımızda acil servise aynı nörolojik semptomlarla başvuran, farklı etyolojik nedenlere bağlı hipoparatiroidi ve buna ikincil oluştuğu düşünülen FAHR hastalığı tanısı konulan üç hastamızı sunmayı amaçladık. Olgularımızda beyin tomografisinde bilateral kaudat nukleus ve serebellum kalsifikasyonu saptanmıştır. Ani başlangıçlı nöropsikiyatrik semptomlar tarif eden, kalsiyum metabolizma bozukluğu olan ve sebebi bulunamayan nörolojik semptomlar gelişen hastalarda ayırıcı tanıda FAHR hastalığı mutlaka akla gelmelidir.

Anahtar Kelimeler:

FAHR hastalığı, hipokalsemi, hiperkalsemi, hipoparatroidi

A Rare Neurological Disorder Characterized By Atypical Findings: Fahr's Disease

Fahr’s disease (bilateral striopallidodentate calcinosis) is a rare disease characterized by neurodegenerative disorders and accompanied by calcinosis in cerebellum, thalamus and basal ganglia which is caused by calcium and phosphorus metabolism disorders. The accumulation of calcium and various minerals in parenchyma can be shown by cranial tomography. Although the etiology of this disease is not known for certain, disorders of calcium metabolism, toxins, infections, genetic factors, hypoparathyroidism, and pseudohypoparathyroidism have been shown among the causes. In this article we presented three patients who have admitted to the emergency department with the same neurological symptoms, and diagnosed with Fahr’s disease that is considered secondary to hypoparathyroidism due to different etiologic factors. Bilateral caudate nucleus and cerebellar calcifications have been determined in computed cerebral topographies of our cases. Fahr’s disease must be considered in the differential diagnosis of patients who have sudden onset neuropsychiatric symptoms, calcium metabolism disorders and/or develop unexplainedneurological symptoms that reason cannot be found.

Keywords:

Fahr Disease, Hypocalcemia, Hypercalcemia, hypoparathyroidism,

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