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George Moisa

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

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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Diagnosis difficulties in extrapyramidal syndrome in young children

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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
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

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DIFICULTATI DE DIAGNOSTIC IN SINDROMUL EXTRAPIRAMIDAL LA COPILUL MIC

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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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