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

Yıl 2017, Cilt: 31 Sayı: 1, 51 - 55, 26.05.2017

Sertaç Erarslan , Türkan Paşalı Kilit

Öz

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.

Anahtar Kelimeler

Fahr Disease, Hypocalcemia, Hypercalcemia, hypoparathyroidism

Atipik nörolojik bulgular ile seyreden nadir bir hastalık: Fahr Hastalığı

Öz

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

Kaynakça

• Referans1 Momenin N, Colletti PM, Kaptein EM. Low pleural fluid-to-serum glucose gradient indicates pleuroperitoneal communication in peritoneal dialysis patients: presentation of two cases and a review of the literature. Nephrol Dial Transplant 2012;27:1212-1219.
• Referans2 Lew SQ. Hydrothorax: pleural effusion associated with peritoneal dialysis. Perit Dial Int 2010;30:13-18.
• Referans3 Edward SR, Unger AM: Acute hydrothorax: a new complication of peritoneal dialysis. JAMA 1967;199:853-855.
• Referans4 Nomoto Y, Suga T, Nakajima K, et al. Acute hydrothorax in continuous ambulatory peritoneal dialysis: a collaborative study of 161 centres. Am J Nephrol 1989;9:363-367.
• Referans5 Ramon RG, Carrasco AM: Hydrothorax in peritoneal dialysis. Perit Dial Int 1998;18:540-546.
• Referans6 Yim AP, Lee TW, Wan IY, Ng C. Images in cardiothoracic surgery. Pleuroperitoneal fistula. Ann Thorac Surg 2002; 73: 1327.
• Referans7 Saillen P, Mossiman F, Wauters JP. Hydrothorax and end-stage chronic renal failure. Chest 1991;99:1010-1011.
• Referans8 Kennedy C, McCarthy C, Alken S, et al. Pleuroperitoneal leak complicating peritoneal dialysis: a case series. Int J Nephrol 2011;2011:526753.
• Referans9 Leblanc M, Ouimet D, Pichette V. Dialysate leaks in peritoneal dialysis. Semin Dial 2001;14:50-54.
• Referans10 Chow KM, Szeto CC, Wong TY, Li P. Hydrothorax complicating peritoneal dialysis: diagnostic value of glucose concentration in pleural fluid aspirate. Perit Dial Int 2002;22:525-528.
• Referans11 Ramaema DP, Mpikashe P. Pleuroperitoneal leak: an unusual cause of acute shortness of breath in a peritoneal dialysis patient. Case Rep Radiol 2014;2014:614846.