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Dergi Kimliği

Online ISSN
1305-3132

Yayın Dönemi
1993 - 2021

Editor-in-Chief
​Cihat Şen, ​Nicola Volpe

Editors
Daniel Rolnik, Mar Gil, Murat Yayla, Oluş Api

Neurosonographic research data in hereditary dysmetabolic disorders of the cns

T. Pulariani , L. Mindadze

Künye

Neurosonographic research data in hereditary dysmetabolic disorders of the cns. Perinatoloji Dergisi 2002;10(3):209-209

Yazar Bilgileri

T. Pulariani ,
L. Mindadze

  1. Tbilisi State Medical University Chair of Children Neurology - GE
Yayın Geçmişi
Çıkar Çakışması

Çıkar çakışması bulunmadığı belirtilmiştir.

Proper and timely diagnosis of hereditary dismetabolic disorders makes it possible to conduct pathogenic treatment and what is more important, provide medicogenetic consultation. 20 patients aged from 3 months to 1 year have been investigated. Biochemical study is the most significant method, but here we pay more attention to brain disontogenesis, as in combination with primaıy biochemical defect it may cause mental deficiency, paralisis and epileptic seazures.
Results were divided into 3 groups. in first group (3 cases) neurosonographic data did not indicate any significant pathology. in group 2 (5 cases)-data pointed to chiefly perinatally conditioned pathologies. in group 3 (12 cases) was revealed varieties of brain disontogenesis: 2 patients with structure abnormalities of hypocampus convolusions and nucleus caudatus; 3 cases of Reil's island anomaly; 2 cases of septochiasmic dysplasia; 2 patients with agenesia of corpus callosus; 1 cases of Dendy-Walker syndrome and 2 patients with hemimegalencephalia. in every patient of group 3 genetic dismelabolism was diagnosed. Proving the supposition that brain disontogenesis is a frequent attendant to genetic enzimopathies. though is not obligatory for them.
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