Recognition of some genetic diseases in cerebral palsy cases
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2021-12-06 15:36
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616.831-009.11-031.4:575.1 (1)
Neurologie. Neuropatologie. Sistem nervos (971)
Genetică generală. Citogenetică generală (427)
SM ISO690:2012
CUZNETZ, Ludmila, HADJIU, Svetlana, CĂLCÎI, Cornelia, EREMIA, Rodica, GRÎU, Corina, FEGHIU, Ludmila, AUTOR, Nou, SPRINCEAN, Mariana, REVENCO, Ninel. Recognition of some genetic diseases in cerebral palsy cases. In: European Journal of Neurology, 2020, nr. S1-2(27), p. 961. ISSN 1351-5101.
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European Journal of Neurology
Numărul S1-2(27) / 2020 / ISSN 1351-5101 /ISSNe 1468-1331

Recognition of some genetic diseases in cerebral palsy cases

CZU: 616.831-009.11-031.4:575.1

Pag. 961-961

Cuznetz Ludmila12, Hadjiu Svetlana12, Călcîi Cornelia12, Eremia Rodica1, Grîu Corina1, Feghiu Ludmila13, Autor Nou1, Sprincean Mariana12, Revenco Ninel12
 
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 Institute of Mother and Child,
3 National Epileptology Center of the Republic of Moldova
 
 
Disponibil în IBN: 17 noiembrie 2021


Rezumat

Background and aims: We set out to conduct a study to analyze children with CP in order to elucidate some distinct phenotypes. To conduct differential diagnosis between CP and some Neurogenetic pathologies by analyzing the phenotype of patients suspected for PC, with the purpose of assessing the prognosis and improving the care of patients. Methods: A retrospective study was conducted to analyze the history and disease records of children admitted to the neurology sections of the IMSP Institute of Mother and Child of the Republic of Moldova during 2014–2018. All 200 children underwent a complex clinical-paraclinical examination, in addition to performing brain MRI and genetic-molecular examinations. Results: The following pathologies were confirmed among patients suspected of CP: (1) neuronal ceroid lipofuscinosis (1 case), (2) childhood Krabbe disease (1 case), (3) Doparesponsive dystonia (1 case), (4) deficiency glucose transport type 1 (1 case), (5) mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) (1 case), (6) Hereditary spastic paraplegia (1 case), (7) spinal amyotrophy ( 2 cases), (8) hereditary myopathy (1 case), (9) Gaucher disease (1 case), (10) Rett syndrome (1 case). Conclusions: Children with CP should be evaluated for some neurogenic disorders, which may mimic a PC. Neuroimaging and molecular-genetic examinations are the ones that help us elucidate the diagnosis. Recognition of the underlying causes of neuro-motor disability will allow improvement in the prognosis, treatment and care of these patients. Specialists in the field should remain cautious in all cases when a PC is suspected, in order to discover the causes of disability. Disclosure: Nothing to disclose