Romanian Journal of Pediatrics Logo
  • Home
  • Aims & Scope
  • Standards
    • Editorial policies
    • Instructions for authors
    • Peer review process
    • Guidelines for Reviewers
    • Ethics policies
    • Official Journal’s protocols & statements
    • Open Access
  • Editorial Council
  • Peer Review Council
  • EMC | CME
  • How to
  • SUBSCRIBE
  • Menu

Arhiva autor

  • About
  • Latest Posts

George Moisa

Latest posts by George Moisa (see all)

  • Diagnosis difficulties in extrapyramidal syndrome in young children - 28/07/2015
  • DIFICULTATI DE DIAGNOSTIC IN SINDROMUL EXTRAPIRAMIDAL LA COPILUL MIC - 28/07/2015

Articole semnate de acelasi autor in Revista Romana de Pediatrie:

Diagnosis difficulties in extrapyramidal syndrome in young children

SELECT ISSUE

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
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

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.

Partners

Partners

Diagnosis difficulties in extrapyramidal syndrome in young children

Ioana Minciu and George Moisa

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

Full text | PDF

Ioana Minciu

DIFICULTATI DE DIAGNOSTIC IN SINDROMUL EXTRAPIRAMIDAL LA COPILUL MIC

SELECT ISSUE

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
Ebsco Host - Medline
Google Academic
Semantic Scholar

HIGHLIGHTS

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.

Partners

Partners

DIFICULTATI DE DIAGNOSTIC IN SINDROMUL EXTRAPIRAMIDAL LA COPILUL MIC

Ioana Minciu and George Moisa

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

Full text | PDF

Ioana Minciu


SEARCH

STANDARDE

  • Instructions for authors
  • Peer review process

Submit article

Submit your article to the journal by using the form here:

Submit

Subscriptions

To receive the Ro Journal of PEDIATRICS click here:

SUBSCRIBE
Publicare-RRPedia
Abonare_RRPedia

Partners

Partners logo

plic-maileditor@rjp.com.ro

Subscribe to the Newsletter

Articles from the journal are licensed under a 
Creative Commons Attribution 4.0 International License

 Terms & Conditions

Open Access Statement

Publisher : AMALTEA Medical Publishing House

The intended audience of the site content is professionals from the medical and pharmaceutical community.
This site does not collect any personal data nor does it use cookies that might obtain such data from your browser. [ info ]
Agree
Contact

trimitere ARTICOLE
email: editor@rjp.com.ro  |  tel.: 0742.155.512, L-V 9.00-18.00

credite & ABONAMENTE
email: info@amaltea.ro |  tel.: 0742.155.511, L-V 9.00-18.00