Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant

Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant Publisher Pubmed

Kameli R¹ ; Amanat M² ; Rezaei Z¹ ; Hosseionpour S¹ ; Nikbakht S¹ ; Alizadeh H³ ; Ashrafi MR¹ ; Omrani A¹ ; Garshasbi M⁴ ; Tavasoli AR¹

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1. Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
2. Faculty of Medicine, Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran
3. Department of Pediatrics, Division of Pediatric Radiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran

Source: Orphanet Journal of Rare Diseases Published:2019

Abstract

Background: Ribonucleases (RNases) are crucial for degradation of ribosomal RNA (rRNA). RNASET2 as a subtype of RNASEs is a 256 amino acid protein, encoded by RNASET2 gene located on chromosome six. Defective RNASET2 leads to RNASET2-deficient leukoencephalopathy, a rare autosomal recessive neurogenetic disorder with psychomotor delay as its main clinical symptom. The clinical findings can be similar to congenital cytomegalovirus (CMV) infection and Aicardi-Goutieres syndrome (AGS). Methods: Herein, we presented a patient with motor delay, neurological regression, infrequent seizures and microcephaly at 5 months of age. Brain imaging showed white matter involvement, calcification and anterior temporal cysts. Basic metabolic tests, serum and urine CMV polymerase chain reaction (PCR) were requested. According to clinical and imaging findings, screening of RNASET2 and RMND1 genes were performed. The clinical data and magnetic resonance imaging (MRI) findings of previous reported individuals with RNASET2-deficient leukodystrophy were also reviewed and compared to the findings of our patient. Results: Brain MRI findings were suggestive of RNASET2-deficient leukoencephalopathy, AGS and CMV infection. Basic metabolic tests were normal and CMV PCR was negative. Molecular study revealed a novel homozygous variant of c.233C > A; p.Ser78Ter in exon 4 of RNASET2 gene compatible with the diagnosis of RNASET2-deficient leukoencephalopathy. Conclusions: RNASET2-deficiency is a possible diagnosis in an infant presented with a static leukoencephalopathy and white matter involvement without megalencephaly. Due to overlapping clinical and radiologic features of RNASET2-deficient leukoencephalopathy, AGS and congenital CMV infections, molecular study as an important and helpful diagnostic tool should be considered to avoid misdiagnosis. © 2019 The Author(s).

Style	Citing Format
MLA	Kameli R, et al.. "Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant." Orphanet Journal of Rare Diseases, vol. 14, no. 1, 2019, pp. -.
APA	Kameli R, Amanat M, Rezaei Z, Hosseionpour S, Nikbakht S, Alizadeh H, Ashrafi MR, Omrani A, Garshasbi M, Tavasoli AR (2019). Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant. Orphanet Journal of Rare Diseases, 14(1), -.
Chicago	Kameli R, Amanat M, Rezaei Z, Hosseionpour S, Nikbakht S, Alizadeh H, Ashrafi MR, Omrani A, Garshasbi M, Tavasoli AR. "Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant." Orphanet Journal of Rare Diseases 14, no. 1 (2019): -.
Harvard	Kameli R et al. (2019) 'Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant', Orphanet Journal of Rare Diseases, 14(1), pp. -.
Vancouver	Kameli R, Amanat M, Rezaei Z, Hosseionpour S, Nikbakht S, Alizadeh H, et al.. Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant. Orphanet Journal of Rare Diseases. 2019;14(1):-.
BibTex	@article{ author = {Kameli R and Amanat M and Rezaei Z and Hosseionpour S and Nikbakht S and Alizadeh H and Ashrafi MR and Omrani A and Garshasbi M and Tavasoli AR}, title = {Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant}, journal = {Orphanet Journal of Rare Diseases}, volume = {14}, number = {1}, pages = {-}, year = {2019} }
RIS	TY - JOUR AU - Kameli R AU - Amanat M AU - Rezaei Z AU - Hosseionpour S AU - Nikbakht S AU - Alizadeh H AU - Ashrafi MR AU - Omrani A AU - Garshasbi M AU - Tavasoli AR TI - Rnaset2-Deficient Leukoencephalopathy Mimicking Congenital Cmv Infection and Aicardi-Goutieres Syndrome: A Case Report With a Novel Pathogenic Variant JO - Orphanet Journal of Rare Diseases VL - 14 IS - 1 SP - EP - PY - 2019 ER -

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