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

Year 2017, Volume: 31 Issue: 1, 51 - 55, 26.05.2017

Sertaç Erarslan , Türkan Paşalı Kilit

Abstract

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

Atipik nörolojik bulgular ile seyreden nadir bir hastalık: Fahr Hastalığı

Abstract

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.

Keywords

FAHR hastalığı, hipokalsemi, hiperkalsemi, hipoparatroidi

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