Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients

Hanna Mierzewska; Bogna Schmidt-Sidor; Elżbieta Jurkiewicz; Anna Bogdańska; Katarzyna Kuśmierska; Tomasz Stępień

eISSN: 1509-572x
ISSN: 1641-4640

Folia Neuropathologica

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4/2009
vol. 47

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abstract:

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients

Hanna Mierzewska

,

Bogna Schmidt-Sidor

,

Elżbieta Jurkiewicz

,

Anna Bogdańska

,

Katarzyna Kuśmierska

,

Tomasz Stępień

Folia Neuropathol 2009; 47 (4): 314-320

Online publish date: 2009/12/29

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AMA

Mierzewska H, Schmidt-Sidor B, Jurkiewicz E, Bogdańska A, Kuśmierska K, Stępień T. Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients. Folia Neuropathologica. 2009;47(4):314-320.

APA

Mierzewska, H., Schmidt-Sidor, B., Jurkiewicz, E., Bogdańska, A., Kuśmierska, K.,  & Stępień, T. (2009). Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients. Folia Neuropathologica, 47(4), 314-320.

Chicago

Mierzewska, Hanna, Bogna Schmidt-Sidor, Elżbieta Jurkiewicz, Anna Bogdańska, Katarzyna Kuśmierska,  and Tomasz Stępień. 2009. "Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients". Folia Neuropathologica 47 (4): 314-320.

Harvard

Mierzewska, H., Schmidt-Sidor, B., Jurkiewicz, E., Bogdańska, A., Kuśmierska, K.,  and Stępień, T. (2009). Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients. Folia Neuropathologica, 47(4), pp.314-320.

MLA

Mierzewska, Hanna et al. "Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients." Folia Neuropathologica, vol. 47, no. 4, 2009, pp. 314-320.

Vancouver

Mierzewska H, Schmidt-Sidor B, Jurkiewicz E, Bogdańska A, Kuśmierska K, Stępień T. Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients. Folia Neuropathologica. 2009;47(4):314-320.

Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive disorder caused by mutation in the ADSL gene. The disease was identified in 1984 by Jaeken and van der Berghe as the first inborn defect of purine biosynthesis. Affected children revealed encephalopathy with epilepsy and marked psychomotor retardation. A neurological examination showed hypotonia, followed sometimes after years by spasticity. The diagnosis is based on detection in the urine and CSF succinyladenosine (S-Ado) and succinylaminoimidazole carboxamide ribotide (SAICAr).
We present brain MR examinations of seven patients with ADSL deficiency in the correlation with their clinical findings. In all cases lack of myelination or of delayed myelination of cerebral white matter was seen. Additionally cerebral and cerebellar atrophy was observed. Neuropathological findings revealed damage of all cellular elements of brain tissue and are cause of observed MR changes. Hypo/dysmyelination seemed to be secondary to damage of oligodendroglia and axons of damaged neuronal cells.

keywords:

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency - MRI, clinical, biochemical and neuropathological findings of Polish patients

Hanna Mierzewska , Bogna Schmidt-Sidor , Elżbieta Jurkiewicz , Anna Bogdańska , Katarzyna Kuśmierska , Tomasz Stępień

adenylosuccinate lyase deficiency, purine biosynthesis, hypomyelination, MRI

Hanna Mierzewska

,

Bogna Schmidt-Sidor

,

Elżbieta Jurkiewicz

,

Anna Bogdańska

,

Katarzyna Kuśmierska

,

Tomasz Stępień