Articole semnate de acelasi autor in Revista Romana de Pediatrie:

Prader-Willi syndrome – case report

Revista Romana de PEDIATRIE | Volumul LXII, Nr. 2, An 2013

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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.

Camelia Buşilă, Carmen Niculescu, Maricica Guşă, Michaela Dobre and A. Nechita

ABSTRACT

Study objective. The objective of the present study is to introduce the diagnosis steps of a rare disease, Prader-Willi Syndrome. Materials and methods. The patient, aged 15 years, was admitted to the Clinical Emergency Hospital for Children “Sf. Ioan” with productive cough and dyspnea. Considering the morbid obesity, mental retardation and other phenotypic aspects noticed when she was admitted, further specialized tests and examinations were recommended (neurological, ENT, endocrinology, orthopedics, gynecology). After the correlation of this disease history with clinical examination and laboratory results, the suspected diagnosis was that of Prader-Willi Syndrome. The genetic analysis was recommended for diagnostic evaluation. Results. Laboratory tests revealed glucose metabolism disorder and hypothyroidism, endocrinological examination suggesting hypothalamic-pituitary etiology of morbid obesity. Gynecological exam found normal anatomically conformation, absent pituitary function, no changes on adrenarche, sex hormones almost absent, no indication of substitutive treatment. ACTH deficiency was correlated with cortisol deficiency. Genetic analysis (FISH, molecular probe D15S10) showed microdeletion on the long arm of chromosome 15 between bands q11-q13, confirming the diagnosis of Prader-Willi syndrome. Conclusion. The results of expert examination and laboratory investigations played an important role in setting the diagnosis but its confirmation is due to genetic testing. Our case highlights once again the need and importance of molecular diagnostic techniques in clinical practice.

Key words: rare diseases, Prader-Willi Syndrome, FISH

Full text | PDF

Camelia Buşilă

SINDROMUL PRADER-WILLI – PREZENTARE DE CAZ

ISSN 1454-0398 | e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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

Camelia Buşilă, Carmen Niculescu, Maricica Guşă, Michaela Dobre and A. Nechita

REZUMAT

Obiectivul studiului. Obiectivul studiului este prezentarea etapelor de diagnosticare a unei boli rare, sindromul Prader-Willi. Materiale şi metodă. Pacienta, în vârstă de 15 ani, s-a adresat Spitalului Clinic de Urgenţă pentru Copii „Sf. Ioan“ din Galaţi pentru tuse productivă şi dispnee. Având în vedere obezitatea morbidă, retardul mental şi alte aspecte fenotipice constatate la internare, au fost recomandate o serie de teste şi examene de specialitate (neurologice, ORL, endocrinologice, ortopedice, ginecologice). Corelarea istoricului bolii cu rezultatele examenului clinic şi paraclinic a suspicionat diagnosticul de sindrom Prader-Willi. Pentru evaluarea diagnosticului s-a indicat analiza genetică. Rezultate. Testele de laborator au evidenţiat tulburări de glicoreglare şi hipotiroidism, examenul endocrinologic sugerând o etiologie hipotalamo-hipofizară a obezităţii morbide. Examenul ginecologic a constatat o conformaţie anatomică normală în condiţiile absenţei funcţiei hipofizare şi în lipsa modificărilor de adrenarhă, cu hormoni sexuali aproape absenţi. Deficitul de ACTH s-a corelat cu deficitul de cortisol. Analiza genetică (FISH, sonda moleculară D15S10) a evidenţiat microdeleţia braţului lung al cromozomului 15 între benzile q11-q13, confirmând diagnosticul de sindrom Prader-Willi. Concluzie. Rezultatele examenelor de specialitate şi investigaţiile paraclinice uzuale au avut un rol important în orientarea diagnosticului, dar confirmarea acestuia se datorează testării genetice. Cazul prezentat subliniază, o dată în plus, necesitatea şi valoare tehnicilor moleculare de diagnostic în practica medicală.

Cuvinte cheie: boli rare, sindromul Prader-Willi, FISH

Full text | PDF

Camelia Buşilă