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PREZENTARE DE CAZ

PREZENTARE DE CAZ. BOALA DOWN. P.M. sex feminin,4 luni si 2 sapt. localitatea Berzunti, jud. Bacau M.I. – febra (39 º C) – dispnee cu polipnee – tuse productiva. A.H.C. – mama 14 ani – tata 21 ani, aparent sanatosi

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PREZENTARE DE CAZ

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  1. PREZENTARE DE CAZ • BOALA DOWN

  2. P.M. sex feminin,4 luni si 2 sapt. localitatea Berzunti, jud. Bacau • M.I. – febra (39 ºC) – dispnee cu polipnee – tuse productiva

  3. A.H.C. – mama 14 ani – tata 21 ani, aparent sanatosi • A.P.F. – I P, I G, sarcina fiziologica, nastere naturala, prezentatie craniana, Gn=2700g , T=?, Apgar (?) – icter fiziologic 5 zile, scadere fiziologica in greutate 200g (7,4%) – vaccinat conform schemei IOMC, ultima vaccinare pe 25.X.2006 (AP) – profilaxia rahitismului cu Vigantol 2 pic/zi – alimentat natural – 3 luni, de la 3 luni primeste banana cu biscuit. • A.P.P. – 3 luni 3 sap: Infectie respiratorie si obs. Boala Down • Istoricul bolii – Sugar de sex feminin, in varsta de 4 luni si 2 sap,distrofic, cu un episod de infectie respiratorie in antecedente, prezinta de aproximativ 5 zile febra, dispnee cu polipnee, tuse productiva, fiind spitalizat la Onesti. Simptomatologia accentuandu-se se transfera in clinica noastra pentru continuarea investigatiilor, diagnostic si tratament.

  4. Examenul clinic • Stare generala:influentata, febril (39ºC) • Talie: 58 cm Greutate: 4100g (normal=5950g) • Stare de nutritie:precara IP=0,71 • Stare de constienta: pastrata • Facies:aspect downian, fante mongoloide, hipertelorism • Tegumente:palide, elastice, cruste mielicerice la nivelul scalpului • Mucoase:congestie faringiana, depozite albicioase pe mucoasa bucala, secretie conjunctivala seroasa • Fanere: normal implantate • Tesut conjunctiv-adipos:slab reprezentat, Pca=1cm, Pct=0,5cm, pliuri adductori simetrice

  5. Examenul clinic • Sistem muscular:hipoton, normotrof, normokinetic • Sistem osteo-articular: aparent integru, mobilitate activa si pasiva normala, FA=2/1 cm, normotensiva, plagiocefalie • Aparat respirator: torace normal conformat, excursii costale simetrice, murmur vezicular aspru, raluri bronsice bilateral, dispnee cu polipnee, FR=62/min, tiraj subcostal si intercostal, stridor laringian • Aparat cardio-vascular: soc apexian sp IV ic stg, linia axilara anterioara, zg cardiace ritmice, suflu sistolic gr II/VI parasternal stg, AV=120/min • Aparat digestiv: cavitate bucala normal conformata, apetit prezent, abdomen destins, depresibil, tranzit intestinal fiziologic • Ficat: 1 cm sub rebord, splina nepalpabila

  6. Examenul clinic • Aparat uro-genital: mictiuni fiziologice, urini normocrome OGE normal conformate • SNC: fara semne de iritatie meningeana, retard psiho-motor, nu tine capul • Organe de simt: normal clinic

  7. Diagnostic prezumtiv clinic si anamnestic • Pneumonie interstitiala • Obs boala Down • Obs MCC • Distrofie gr. II • Stomatita albicans

  8. GA 10900/mm3 PN 50%, L 48%, E 2% Hb 10,9g/dl,Ht 31,9%, VEM =81,93, CHEM =34,3% HEM=pg Tr 449000/mm3 VSH 7mm/h CRP absent Fe seric in lucru TGP 22UI Uree 0,32 g‰ P 4,68mg% FA 588 U/l PT 59 g‰ Na 121,7 mmoli/l K 2,88 mmoli/l Sumar urina normal MFOP/CL absent Investigatii paraclinice

  9. Investigatii paraclinice • Ex genetic: • EKG: • Echocardiografie:FO permeabil (posibil DSA ostium sec.)  necesita ECHO Doppler. • Rg cardio-toracica:infiltratie interstitiala trabeculara arborizata in ambele hemitorace, pe fond de intens emfizem generalizat. Cord normal radiologic • Ex ORL:Rinofaringita acuta. Laringomalacie • Ex oftalmologic:hipetelorism, epicantus, conjunctivita catarala • Echografie abdominala: normala

  10. Diagnostic pozitiv • Pneumonie interstitiala • Obs boala Down • FO permeabil (obs. DSA) • Laringomalacie • Rinofaringita acuta • Stomatita albicans • Conjunctivita catarala • Anemie carentiala • Distrofie gr.II

  11. Tratament • Alimentatie mixta (san si lapte praf) • Penicilina G 400.000 UI/zi • Brofimen 5 pic X 3 ori/zi • Paracetamol sirop 2,5 ml X 3 ori/zi • DNF cu ser fiziologic • Fenobarbital 30 mg/zi • Badijonaj bucal cu Glicerina boraxata

  12. Evolutie • infectia respiratorie are evolutie favorabila sub tratament • prognosticul bolii Down este in functie de cariotip • Particularitatea cazului • Aparitia bolii Down la o mama foarte tanara • (14 ani) • Asocierea bolii Down cu malformatie cardiaca • Diagnosticarea bolii Down cu ocazia unei infectii respiratorii

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