ESPN 51th Annual Meeting

ESPN 2018


 
Cerebrovascular ischemia and autoimmune hemolytic anemia in a patient with Schimke immuno-osseous dysplasia
BELTINGE DEMIRCIOGLU KILIC 1 MEHTAP AKBALIK KARA 2 MITHAT BUYUKCELIK 1 AYSE BALAT 3

1- GAZIANTEP UNIVERSITY, FACULTY OF MEDICINE, DEPARTMENT OF PEDIATRIC NEPHROLOGY, GAZIANTEP, TURKEY
2- DIYARBAKIR CHILDRENS HOSPITAL, DEPARTMENT OF PEDIATRIC NEPHROLOGY, GAZIANTEP, TURKEY.
3- ISTANBUL AYDIN UNIVERSITY, FACULTY OF MEDICINE, DEPARTMENT OF PEDIATRIC NEPHROLOGY, ISTANBUL, TURKEY.
 
Introduction:

Introduction: Schimke immune-osseous dyplasia (SIOD) is rare autosomal recessive disorder characterized by skelatal dysplasa, progressif renal insufficiency and defective cellular immunity.  SIOD is a multisystem disorder and life-threatening complications may develop in this disease. A patient with SIOD, who developed autoimmune hemolytic anemia and cerebrovasculer ischemia is presented here. 

Material and methods:

Case: A 8-year-old girl was followed up for steroid resistant nephrotic syndrome. Her parents had a first degree cousin relationship. SMARCAL1 gene mutation was investigated because of disproportionate short stature and cellular immune deficiency. c.2459>A (p.Arg820His)(p.R820H) homozygous mutation was detected and SIOD was diagnosed. Two years after diagnosis she presented with right hemiparesis. The laboratory results were creatinine: 0.2 mg/dl, albumine: 1.9 gr/dl, total cholesterol: 464 mg/dl, triglyceride: 140 mg/dl, hemoglobin: 4.2 gr/dl, leukocyte: 4770/mm3, lymphocyte: 1150/mm3, platelet: 830000/mm3 detected. Erythrocyte transfusion was given. Firstly brain hemorrhage was considered in the patient. There was no bleeding in the cranial tomography. On diffusion magnetic resonance imaging (MRI), ischemic acute infarcts were detected in the left frontal lobe subcortical white matter. MRI angiography detected arterial filling defect and ischemic infarction in the distal left anterior communican artery and middle cerebral artery.  Enoxaparin sodium therapy was started. The other laboratory results were: haptoglobulin: 0.03gr/L, LDH: 558 U/L, AST: 29 U/L, ALT: 10 U/L, direct coombs 3+, and hemolysis findings in the peripheral blood smear. Serum complement levels were in the normal range and antinuclear antibody test was negative. Autoimmune hemolytic anemia was considered. Methylprednisolone therapy was begun. Then the findings of the hemolysis improved.

Results:

 None

Conclusions:

Conclusion: It should be kept in mind that life-threatening complications such as autoimmune hemolytic anemia and cerebrovascular ischemia may develop in patients with SIOD.