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Ioana Minciu

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

Clinical imaging correlations in cerebral palsy

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 2, An 2012
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Clinical imaging correlations in cerebral palsy

ABSTRACT

Cerebral palsy is a group of persistent (but not necessarily unchanged), movement, posture, muscle tone, and motor skills disorders, non-progressive, with early onset, due to non-progressive impairments, occurring on an immature brain or a brain under development (prenatal, perinatal, postnatal during the fi rst 3-4 years of life). [1] It is associated to a variable extent with: cognitive disorders, epilepsy, sensory deficits, behaviour disorders. The aetiology of cerebral palsy is sometimes difficult to identify, and neuroimaging plays an important role in this respect. The aim of this study is to review the results of the imaging investigations in relation to the clinic.

Material and method: it is a retrospective trial of the patients hospitalized in the Paediatric Neurology Clinic of the Al Obregia Hospital in 2010 with the diagnosis of cerebral palsy, who underwent imaging investigations.

Results and conclusions: 379 children were analysed. Most children (>87%) with cerebral palsy had neuroradiological abnormalities. In terms of frequency, white matter lesions were the most frequent, followed by white and grey matter lesions. Periventricular white matter lesions were correlated with spastic diparesis. White and grey matter lesions were coupled with spastic hemiparesis, and grey matter lesions with dyskinetic forms. Malformations were significantly associated with ataxic forms and spastic hemiparesis. The imaging was more frequently normal in spastic diparesis. The data are consistent with those in literature. Imaging investigations are intended to contribute to the understanding of aetiology and pathogenesis, the setting of a prognosis, and in the future in finding a prophylaxis.

Key words: cerebral palsy, magnetic resonance imaging, computed tomography

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CORELATII CLINICO-IMAGISTICE IN PARALIZIA CEREBRALA

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 2, An 2012
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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DOI - Crossref
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HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

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Promoting Global Health

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CORELATII CLINICO-IMAGISTICE IN PARALIZIA CEREBRALA

REZUMAT

Paralizia cerebrală reprezintă un grup de tulburări de mişcare, postură, tonus, funcţie motorie, persistente (dar nu neapărat neschimbate), neprogresive, cu debut precoce, datorate unor afecţiuni neprogresive, survenind pe un creier imatur sau în dezvoltare (prenatal, perinatal, postnatal în primii 3-4 ani de viaţă). (1) Se asociază în mod variabil cu: tulburări cognitive, epilepsie, deficite senzoriale, tulburări de comportament. Etiologia paraliziei cerebrale este uneori dificil de identificat, iar neuroimagistica joacă un rol important în acest sens. Scopul lucrării este de a analiza rezultatele investigaţiilor imagistice în relaţie cu clinica. Material şi metodă: este un studiu retrospectiv al pacienţilor internaţi în Clinica de Neurologie pediatrică a Spitalului Al. Obregia în 2010 cu diagnosticul de paralizie cerebrală şi care au avut investigaţii imagistice. Rezultate şi concluzii: au fost analizaţi 379 copii. Majoritatea copiilor (> 87%) cu paralizii cerebrale au avut anomalii neuroradiologice. Pe primul loc ca frecvenţă s-au situat leziunile de substanţă albă, iar pe locul doi leziunile de substanţă albă şi cenuşie. Leziunile de substanţă albă periventriculară s-au corelat cu dipareza spastică. Leziunile de substanţă albă şi cenuşie s-au corelat cu hemipareza spastică, iar cele de substanţă cenuşie cu formele dischinetice. Malformaţiile au fost semnificativ asociate formelor ataxice şi hemiparezelor spastice. Imagistica a fost mai frecvent normală în diparezele spastice. Datele sunt concordante cu cele din literatură. Investigaţiile imagistice au rolul de a contribui la înţelegerea etiologiei şi patogeniei paraliziei cerebrale, formularea unui prognostic, iar pe viitor la găsirea profilaxiei.

Cuvinte cheie: paralizie cerebrală, imagerie prin rezonanţă magnetică, computer tomografie

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Diagnosis difficulties in extrapyramidal syndrome in young children

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 4, An 2012
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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National Awards “Science and Research”

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ICMJE- Recommendations

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Promoting Global Health

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Diagnosis difficulties in extrapyramidal syndrome in young children

and

ABSTRACT

Introduction. Lesch-Nyhan disease is a genetic disorder, X-linked recessive, of the purines metabolism, characterized by deficiency of hipoxanthine-guanine-phosphoribosyltransferase (HPRT- 1) which results in an increase of uric acid in both the blood and the urine. The gene is located on the chromosome X q26- q27.2.

Case presentation. It’s presented the case of a boy now 6 years old, with multiple admissions in Pediatric Neurology Clinic, “Al. Obregia” Hospital from the age of about 1 year for psychomotor developmental delay, movement disorders, initially diagnosed with cerebral palsy, then at the age of 3 years old, once the selfmutilation behavior and hyperuricaemia were noticed we suspected Lesch-Nyhan disease which was genetically confirmed at the age of 3 years and 6 months.

Conclusions. A clinical picture of spastic-dyskinetic “Cerebral Palsy” with normal cerebral MRI can underlay a metabolic disorder with genetic transmission and increased risk of recurrence.

Key words: extra-pyramidal syndrome, hyperuricaemia, HPRT gene

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DIFICULTATI DE DIAGNOSTIC IN SINDROMUL EXTRAPIRAMIDAL LA COPILUL MIC

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Revista Romana de PEDIATRIE | Volumul LXI, Nr. 4, An 2012
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

Indexed

DOI - Crossref
Similarity Check by iThenticate, worldwide No 1 professional plagiarism checking system
DOAJ
Scopus
NLM Catalog
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

National Awards “Science and Research”

NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.

ICMJE- Recommendations

Read the Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals.

Promoting Global Health

The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.

DIFICULTATI DE DIAGNOSTIC IN SINDROMUL EXTRAPIRAMIDAL LA COPILUL MIC

and

REZUMAT

Introducere. Boala Lesch Nyhan este o boală genetică, cu transmitere-X linkată recesivă, a metabolismului purinelor caracterizată prin deficitul de Hipoxantin-Guanin-Fosforiboziltransferază (HPRT) ce duce la hiperproducţie de acid uric. Gena este localizată pe cromozomul X q26-q27.2.

Prezentarea cazului. Se prezintă cazul unui copil de sex masculin HAV în prezent în vârstă de 6 ani, internat în Clinica Neurologie Pediatrică Spital „Al. Obregia“ în mod repetat de la vârsta de aproximativ 1 an pentru întârziere în dezvoltarea psihomotorie pe etape, tulburări de tonus şi mişcare care, iniţial, a fost diagnosticat ca paralizie cerebrală, pentru ca la 3 ani, odată cu apariţia automutilărilor şi a hiperuricemiei, să fie suspicionat ca Boală Lesch-Nyhan şi confirmat genetic la 3 ani şi 6 luni.

Concluzii. Un tablou clinic de „Paralizie cerebrală spastic-diskinetică“ cu IRM cerebral normal poate as cunde o boală metabolică cu transmitere genetică şi risc crescut de recurenţă.

Cuvinte cheie: sindrom extrapiramidal, hiperuricemie, gena HPRT

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