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Frasier syndrome diagnosed in a 4-year-old girl

100%
Miloševic B., Bogdanović R., Kostić M., Stojanović V.
Open Medicine
|
2012
|
vol. 7
|
issue 2
142-144
EN
The authors present the case of a girl with Frasier syndrome that was diagnosed at the age of 4 years. At 3.5 years, she was diagnosed a steroid-resistant nephrotic syndrome associated with focal segmental glomerulosclerosis. The girl presented with female phenotype and male genotype (46XY) as well with gonadal dysgenesis. Genetic analysis confirmed the +2T>C mutation in the intron 9 of the WT1 gene. She developed end-stage renal disease at 14 years, culminating in renal transplantation. The liver biopsy revealed a post-transplantation lymph-proliferative disease.
2
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TRAP (Twin Reversed Arterial Perfusion) sequence

88%
Doronjski A., Stojilković T., Spasojević S., Milanović B., Stojanović V.
Open Medicine
|
2014
|
vol. 9
|
issue 3
491-494
EN
TRAP (Twin Reversed Arterial Perfusion) sequence is a rare malformation that occurs in monozygotic twin pregnancies. Twin weight ratio in our case was 76% (body weight of pump twin was 1800 g, acardiac twin 1370 g), but in spite of that the pump twin had a mild clinical picture with premature birth, fetal hydrops (mild pleural effusion; hypoproteinemia; on the 3rd day of life the baby was without edema and the level of his serum proteins were in referral ranges) and mild myocardial hypertrophy of left ventricle (echocardiography performed on the 28th day of life was normal).
3
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Herpes simplex and Ebstein Barr virus encephalitis complicated with Klüver-Bucy syndrome

76%
Stojanović V., Kozić D., Mudrinić T., Doronjski A., Spasojević S., Njagulj V.
Open Medicine
|
2013
|
vol. 8
|
issue 2
213-216
EN
A case of sixteen-year-old boy with initial herpes simplex virus (HSV) and Epstein-Barr virus (EBV) encephalitis is reported. Herpesviruses are often found in cerebrospinal fluid (CSF) along with EBV. After eradication of HSV in CSF in this case, a positive polymerase chain reaction (PCR) to EBV in CSF remained along with a severe clinical picture (segmental myoclonus and Klüver-Bucy syndrome) and worsening of brain magnetic resonance imaging (MRI) findings. Neurological and psychological improvement occurred after treatment with intravenous immunoglobulin.
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