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Carmen Duicu

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Articole semnate de acelasi autor in Revista Romana de Pediatrie:

A case of Stevens Johnson syndrome in child

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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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A case of Stevens Johnson syndrome in child

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ABSTRACT

We present a 9-year-old boy with epilepsy refractory to previous treatment diagnosed with Stevens Johnson syndrome appeared after the introduction of Lamictal in treatment. The boy had fever, polymorphous exanthema, papulopustular erythematous, bullous generalized vesiculobullous elements and skin denudation, conjunctivitis, mouth lesions. We have interpreted the associated pneumonia as a damage of a lower respiratory tract mucous membranes within Stevens Johnson syndrome. The evolution of the disease was favourable after high doses of Ig IV (intravenous immunoglobulin). In conclusion, even if the Steven Johnson syndrome incidence is low in children, pediatricians should be aware of the possibility of its reggresion (even after antiepileptics - Lamictal), and even if the use of Ig IV is controversial, it leads to healing when is given in high doses.

Key words: Stevens Johnson syndrome, child, epilepsy, Lamotrigine (Lamictal)

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UN CAZ DE SINDROM STEVENS JOHNSON LA COPIL

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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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UN CAZ DE SINDROM STEVENS JOHNSON LA COPIL

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REZUMAT

Prezentăm cazul unui băiat de 9 ani cu epilepsie refractară la tratamentul anterior, diagnosticat cu sindrom Stevens Johnson apărut după introducerea în tratament a Lamictalului. Băiatul a prezentat febră, exantem polimorf maculo-papulo-eritematos, cu elemente veziculo buloase generalizate şi denudare tegumentară, conjunctivită, leziuni bucale. Pneumonia asociata am interpretat-o ca afectare a mucoasei tractului respirator inferior din cadrul sindromului Stevens Johnson. Evoluţia bolii a fost favorabilă după doze mari de imunoglobuline intravenos. În concluzie, deşi incidenţa sindromului Steven Johnson este mică la copil, pediatrii trebuie să fie conştienţi de posibilitatea apariţiei ei (chiar după antiepileptice – Lamictal), iar utilizarea imunoglobulinelor IV, deşi controversată, administrată în doze mari pare că duce la vindecarea bolii.

Cuvinte cheie: Sindrom Stevens Johnson, copil, epilepsie, Lamotrigin (Lamictal)

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A case of giant hydronephrosis associated with arterial hypertension

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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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A case of giant hydronephrosis associated with arterial hypertension

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ABSTRACT

Cases of giant hydronephroses are rare and usually contain no more than 1-2 liters of fluid in the collecting system. We report a case of giant hydronephrosis with secondary transitory arterial hypertension. An overweight 14-year-old boy was incidentally discovered with high blood pressure at a routine medical visit. Medical history was unremarkable. Abdominal ultrasound revealed a giant cystic tumor fi lling over then 50% of abdominal cavity. Although both clinical symptoms and physical exam were poor and arterial hypertension seemed obesityinduced, finally high blood pressure was secondary to the giant hydronephrosis. Therefore, any abdominal cystic mass even in the absence of other evident pathologies should include the differential diagnosis of a possible hydronephrosis.

Key words: giant hydronephrosis, hypertension, child

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UN CAZ DE HIDRONEFROZA GIGANTA ASOCIATA CU HIPERTENSIUNE ARTERIALA

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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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UN CAZ DE HIDRONEFROZA GIGANTA ASOCIATA CU HIPERTENSIUNE ARTERIALA

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REZUMAT

Cazurile de hidronefroză gigantă sunt rare şi, de obicei, nu conţin mai mult de 1-2 litri de lichid în sistemul colector. Prezentăm un caz de hidronefroză gigantă însoţită de hipertensiune arterială (HTA) tranzitorie secundară. Cu ocazia unui examen de rutină, unui pacient de 14 ani, supraponderal, i-au fost descoperite valori crescute ale teniunii arteriale. Istoricul medical a fost nesemnificativ. Ecografia abdominală a evidenţiat o tumoră chistică gigantă ce ocupa peste 50% din cavitatea abdominală. Deşi simptomele clinice cât şi examenul fizic au fost sărace, iar iniţial HTA părea indusă de obezitate, în cele din urmă HTA s-a dovedit a fi secundară hidronefrozei gigante. Prin urmare, diagnosticul diferenţiar al unei formaţiuni abdominale chistice, chiar şi în absenţa altor patologii evidente, ar trebui să includă o posibilă hidronefroză.

Cuvinte cheie: hidronefroză gigantă, hipertensiune, copil

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Maple urine syrup disease – two cases presentations

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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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Maple urine syrup disease – two cases presentations

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ABSTRACT

Maple urine syrup disease (MSUD) is part of a heterogenous group of inborn errors of metabolism.

The aim of the paper was to present 2 cases of MSUD diagnosed in our clinic, their evolution and response to treatment.

Patients and method. The diagnosis was documented by determining serum and urinary aminoacids. Each case was examined and evaluated in dynamics in terms of clinical, laboratory, treatment and evolution.

Results. The MSUD onset-age in the first case was in the 5th-6h days and 3rd week for the second case (both were breastfed). The onset of clinical manifestations: lethargy, apathy, adinamy(first case), drowsiness, capping the eyes, hypotonia(second case); capricious appetite/eating disorders in both cases, intercurrent symptoms (cough, rhynorrhea in the second case, probably urosepsis in the first case).

Evolution: the first case who had a severe type: associated drowsiness, generalized weakness, sometimes alternating with bouts of tonic contractions/rigidity, tendency to opistotonus, changes in reflexes, trismus, needing mechanical ventilation and ultimately death; the second case (a milder type) had a favorable evolution dependent on hygienic-dietary and drug-treatment.

Conclusions. Since postnatal infants are apparently clinically healthy, there are no genotype-phenotype correlation, in many countries it has been added in the neonatal screening of metabolic diseases. Early diagnosis, along with specific treatment can prevent complications allowing a normal intellectual development of children with such defects.

Key words: maple urine syrup disease (MSUD), metabolic disease, child

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BOALA URINILOR CU MIROS DE SIROP DE ARTAR – DOUA PREZENTARI DE CAZ

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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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BOALA URINILOR CU MIROS DE SIROP DE ARTAR – DOUA PREZENTARI DE CAZ

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REZUMAT

Boala urinilor cu miros de sirop de arţar face parte dintr-un grup heterogen de afecţiuni, respectiv erorile înnăscute de metabolism. Scopul lucrării. Ne propunem să prezentăm 2 cazuri diagnosticate în clinica noastră, urmărirea evoluţiei şi a răspunsului la tratament.

Material şi metodă. Diagnosticul s-a documentat prin determinarea amino-acizilor serici şi urinari. Fiecare caz a fost analizat, urmărindu-se în dinamică datele anamnestice, examenul clinic, examinări paraclinice şi de laborator, scheme terapeutice, evoluţie.

Rezultate. Vârsta la debutul tipic în primul caz, adică în zilele 5-6 de viaţă, şi la 3 săptămâni de viaţă la al doilea caz (deşi în ambele cazuri alimentaţia era naturală).

Manifestările clinice la debut. Tabloul neurologic: letargie, apatie, adinamie (primul caz), somnolenţă, plafonarea privirii, hipotonie (cazul 2); apetit capricios/ tulburări de alimentaţie (acumularea AA şi a metaboliţilor acestora), în ambele cazuri; simptomatologia intercurenţei (tuse, rinoree la cazul 2; probabil ITU/ urosepsis în primul caz).

Evoluţie. Primul caz, prezentând o formă severă asociază somnolenţă, hipotonie generalizată, uneori alternând cu crize de contractură tonică/rigiditate, trismus, cu necesitatea ventilaţiei mecanice şi în final deces; al doilea caz, cu o formă mai uşoară, a avut evoluţie favorabilă dependentă de tratament igienodietetic şi medicamentos.

Concluzii. Deoarece postnatal nou-născuţii sunt aparent sănătoşi din punct de vedere clinic, neexistând o corelaţie fenotip-genotip, în multe ţări a fost adăugată în screening-ul neonatal al afecţiunilor metabolice. Diagnosticul precoce, alături de regimul specific, poate preveni complicaţiile, permiţând astfel o dezvoltare intelectuală normală a copiilor purtători ai acestor defecte.

Cuvinte cheie: boala urinilor cu miros de sirop de arţar, leucinoză, boală metabolică, copil

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