Bilateral striatal necrosis caused by <i>ADAR</i> mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Dorota Piekutowska-Abramczuk; Hanna Mierzewska; Monika Bekiesińska-Figatowska; Elżbieta Ciara; Joanna Trubicka; Maciej Pronicki; Dariusz Rokicki; Małgorzata Rydzanicz; Rafał Płoski; Ewa Pronicka

doi:10.5114/fn.2016.64819

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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4/2016
vol. 54

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abstract:

Case report

**Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome**

Dorota Piekutowska-Abramczuk

¹

,

Hanna Mierzewska

²

,

Monika Bekiesińska-Figatowska

³

,

Elżbieta Ciara

¹

,

Joanna Trubicka

¹

,

Maciej Pronicki

⁴

,

Dariusz Rokicki

⁵

,

Małgorzata Rydzanicz

⁶

,

Rafał Płoski

⁶

,

Ewa Pronicka

^{1, 5}

Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland
Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland
Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland
Department of Pathology, The Children’s Memorial Health Institute, Warsaw, Poland
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland
Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland

Folia Neuropathol 2016; 54 (4): 405-409

DOI: https://doi.org/10.5114/fn.2016.64819

Online publish date: 2016/12/27

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AMA

Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, et al. Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. Folia Neuropathologica. 2016;54(4):405-409. doi:10.5114/fn.2016.64819.

APA

Piekutowska-Abramczuk, D., Mierzewska, H., Bekiesińska-Figatowska, M., Ciara, E., Trubicka, J.,  & Pronicki, M. et al. (2016). Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. Folia Neuropathologica, 54(4), 405-409. https://doi.org/10.5114/fn.2016.64819

Chicago

Piekutowska-Abramczuk, Dorota, Hanna Mierzewska, Monika Bekiesińska-Figatowska, Elżbieta Ciara, Joanna Trubicka, Maciej Pronicki,  and Dariusz Rokicki et al. 2016. "Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome". Folia Neuropathologica 54 (4): 405-409. doi:10.5114/fn.2016.64819.

Harvard

Piekutowska-Abramczuk, D., Mierzewska, H., Bekiesińska-Figatowska, M., Ciara, E., Trubicka, J., Pronicki, M., Rokicki, D., Rydzanicz, M., Płoski, R.,  and Pronicka, E. (2016). Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. Folia Neuropathologica, 54(4), pp.405-409. https://doi.org/10.5114/fn.2016.64819

MLA

Piekutowska-Abramczuk, Dorota et al. "Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome." Folia Neuropathologica, vol. 54, no. 4, 2016, pp. 405-409. doi:10.5114/fn.2016.64819.

Vancouver

Piekutowska-Abramczuk D, Mierzewska H, Bekiesińska-Figatowska M, Ciara E, Trubicka J, Pronicki M et al. Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome. Folia Neuropathologica. 2016;54(4):405-409. doi:10.5114/fn.2016.64819.

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Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi- Goutières syndrome type 6, severe infantile encephalopathy with intracranial calcifications and dominant dyschromatosis symmetrica hereditaria, demonstrated mainly in Asian adults. Recently, they have been also found in patients with nonsyndromic bilateral striatal necrosis accompanied by skin changes of the freckles-like type.

Here, we present Polish siblings with acute onset and slowly progressive extrapyramidal syndrome with preserved intellectual abilities and basal ganglia changes found in MRI. A Leigh syndrome was considered for a long time as the most frequent cause of such lesions in children. Finally, two molecular variants in non-mitochondria-related ADAR gene c.3202+1G>A (p.?) and c.577C>G (p.Pro193Ala) were revealed by whole exome sequencing.

We suggest that bilateral striatal necrosis should be always differentiated from LS to prevent the diagnosis delay. The striatal involvement accompanied by the presence of freckles-like skin changes should direct differential diagnosis to the ADAR gene mutations screening.

keywords:

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

Dorota Piekutowska-Abramczuk 1 , Hanna Mierzewska 2 , Monika Bekiesińska-Figatowska 3 , Elżbieta Ciara 1 , Joanna Trubicka 1 , Maciej Pronicki 4 , Dariusz Rokicki 5 , Małgorzata Rydzanicz 6 , Rafał Płoski 6 , Ewa Pronicka 1, 5

bilateral striatal necrosis, ADAR gene, whole exome sequencing, LS differentiation

**Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome**

Dorota Piekutowska-Abramczuk

¹

,

Hanna Mierzewska

²

,

Monika Bekiesińska-Figatowska

³

,

Elżbieta Ciara

¹

,

Joanna Trubicka

¹

,

Maciej Pronicki

⁴

,

Dariusz Rokicki

⁵

,

Małgorzata Rydzanicz

⁶

,

Rafał Płoski

⁶

,

Ewa Pronicka

^{1, 5}