55. Ulusal Nöroloji Kongresi

NOROKONGRE 2019


 
CASE PRESENTATİON OF RARE DİSEASE, FAHR”S SYNDROME. CAN VİT D3 LEVELS PLAY ROLE ON THE MECHANİSM OF DİSEASE.
RİMA IBADOVA 1 AYAZ HİDAYETOV 1

1- MEDİSTYLE HOSPİTAL, BAKU, AZERBAİJAN
 
Amaç:

The aim of the study: To demonstrate rare disease also to give attention if there may be any relationship between vit D methobolism and disease mechanism.

Gereç ve Yöntem:

Introduction: Fahr’s disease (FD) is a rare disease with characterized by idiopathic calcification of the basal ganglia, cerebellar dentate nuclei and bilateral white matter, so this syndrome also can call bilateral striopallidodentate calcinosis (BSPDC). Clinical manifestation can occur at any age and can be clinically heterogeneosus. However, one case is not enough to determine it, but it can be very interesting to try to find if there any relationship between disease mechanism and vit D3 blood levels.

Bulgular:

31-year-old woman, married, came to our neurology department with the severe headaches, and some depression mood which increased by time. In our examination depressive mood were expressed without any other psychiatric disorders, Mini Mental State Examination (MMSE) score was 26/30. Neurological examination showed only mild action tremor without another signs of extrapyramidal features. Neither dismetry or any other cerebellar signs were present. General examinations were normal. Routine blood tests disclosed normal ionic calcium level, also complete haematochemical examinations, including thyroid and parathyroid hormones, phosphorus/calcium, liver function tests, complete blood count, along with sedimentation, were normal, too. Only blood vit D level were low, (8 ng/ ml). First of all, the MRI of the brain were determined and when our radiologist saw calcification on basal ganglia CT of the brain determined, too. Findings: Unenhanced CT and MRI show bilateral calcifications, slightly asymmetrical in the basal ganglia and the thalamus, also there are the bilateral dentate nucleus and cerebellar calcifications were noted, which you can see from the pictures below: However, genetic testing cannot prescribed ( for the SLC20A2, PDGFB, and PDGFRB) , neuroradiology and clinical manifestations were enough to determine the diagnosis. vit D, betta blocker and SSRI group of antidepressant were prescribed. Patient is following now with propranolol and sertraline without any worsening for a 12-month period. 25-OH Vit D3 and another blood tests are normal now

Sonuç:

Bilateral striopallidodentate calcinosis or FAHRs disease is mostly associated with a disorder of calcium and phosphate metabolism, especially hypoparathyroidism however, different etiology must be considered, including infectious, metabolic, and genetic diseases. The treatment targets include symptomatic support. Treatment of underlying etiology such as hypoparathyroidism has led to neuropsychiatric improvement. Our clinical case shows young woman with early presentation of the disease which did not reveal abnormalities in calcium, phosphate, parathyroid levels and other metabolism problems which responsible for calcium deposition. Furthermore, there was no family history. Reduced 25-OH vitamin D3 suggest an inborn error of vitamin D metabolism. However, one case is not enough to determine it, but it can be very interesting to try to find if there any relationship between disease mechanism and vit D3 blood levels. We can see from the literature that excess vitamin D leads to hypercalcaemia and hyperphosphataemia while low or high vitamin D is associated with arterial stiffness and medial calcification. In addition, vitamin D receptor knockout mice exhibit calcifications of the thalamus. These reports suggest that hypovitaminosis D or specific genes vitamin D regulates could be contributing factors in the development of brain calcification.