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  • Congenital Hypothyroidism With Thyroid Dysgenesis

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    The patient, a 5-month old boy, was admitted to the hospital with generalized muscle hypotonia, drowsiness, and a history of positive newborn screening for congenital hypothyroidism. He had received levothyroxine treatment for 2 weeks after birth but his mother stopped the treatment. Examination found cretinoid features and very high TSH with undetectable T4. Treatment with increasing doses of levothyroxine was started and led to significant improvement in tone and alertness after 3 weeks. Congenital hypothyroidism left untreated can cause severe developmental delays and even cretinism, so early initiation of replacement therapy is important for normal development.

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    The patient, a 5-month old boy, was admitted to the hospital with generalized muscle hypotonia, drowsiness, and a history of positive newborn screening for congenital hypothyroidism. He had received levothyroxine treatment for 2 weeks after birth but his mother stopped the treatment. Examination found cretinoid features and very high TSH with undetectable T4. Treatment with increasing doses of levothyroxine was started and led to significant improvement in tone and alertness after 3 weeks. Congenital hypothyroidism left untreated can cause severe developmental delays and even cretinism, so early initiation of replacement therapy is important for normal development.

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    4 views4 pages

    Congenital Hypothyroidism With Thyroid Dysgenesis

    Uploaded by

    Marilena Mn
    The patient, a 5-month old boy, was admitted to the hospital with generalized muscle hypotonia, drowsiness, and a history of positive newborn screening for congenital hypothyroidism. He had received levothyroxine treatment for 2 weeks after birth but his mother stopped the treatment. Examination found cretinoid features and very high TSH with undetectable T4. Treatment with increasing doses of levothyroxine was started and led to significant improvement in tone and alertness after 3 weeks. Congenital hypothyroidism left untreated can cause severe developmental delays and even cretinism, so early initiation of replacement therapy is important for normal development.

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    Attribution Non-Commercial (BY-NC)
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    Congenitalhypothyroidismwiththyroiddysgenesis therapeuticattitude

    Autor:BadilaPatricia1 Coautor:BoteaMarianVictoras1,MoldovanZoica2
    1

    Student,anulV,UniversitateadeMediciniFarmacieCarolDavila,Bucureti Asist.Univ.Dr.MoldovanZoica,sectiaIVPediatriedincadrulIOMCAlfredRusescu.

    Abstract Introduction:Congenitalhypothyroidismisinadequatethyroidhormoneproductioninnewborn infants. This can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency. Materials and methods: We present the case of a 5months old patient who was admitted to the hospital on the 14th of October 2010 with generalized muscle hypotonia, drowsiness and whos history revealed positive neonatal screening test for congenital hypothyroidism. He followed a substitution treatment with levothyroxine, but the mother decided to stop it after two weeks of administration. As a result of the clinical and paraclinical status we decided to beginthetreatmentwithdrugtherapy:Euthyrox25,increasingthedosefromonetotwotabletsperday during one month. Results: After 3 weeks of treatment we have noticed an important decrease of edema,a bettertonicity, thepatientwasreactive,hefollowedobjectswithhiseyes,keepedtheheadin the trunk axis, rolled actively and smiled. Conclusions: In the absence of substitution treatment children withcongenitalhypothyroidismhaveapoorgrowthanddelayed development.Afterseveralyearsthese children develop characteristic appearance of the face and body cretinism. The persistence of severe hypothyroidism, untreated, leads to severe retardation, with an IQ below 80 in most cases, these childrenbeingofteninstitutionalized. KeyWords:congenitalhypothyroidism,cretinism,substitutiontreatment.

    1. Prezentareacazuluiclinic PacientulC.I.,desexmasculin,nvrstde5luni,internatladatade14.10.2010. Motiveleinternrii: hipotoniemusculargeneralizat,somnolen,areactivitate. Antecedente fiziologice: Natere spontan la VG de 41 sptmni, prezentaie cranian, GN=3750g,lungime=54cm,Apgar8(mamanutiemotivul);icterfiziologicinstalatna5azide via. Antecedentepatologice:Frafeciunirespiratoriiidigestivenantecedente.

    Istoricul bolii: Sugar de sex masculin n vrst de 5 luni, cu test de screening neonatal pozitiv pentru hipotiroidism congenital, n urma cruia se ncepe tratamentul substitutiv cu levotiroxin, dar pe care mama l oprete din proprie iniiativ dup aprox. 2 sptmni, fr a maiefectuatratamentulsubstitutivdelavrstade1lunpnnprezent. 2. Algoritmulurmatpentrudiagnostic Examenulobiectiv Releva stare general mediocr, afebril in timpul examinrii, aspect dismorfic; facies mixedematos (edem palpebral, baza nasului lrgit, macroglosie), membre scurte cu brahidactilie; tegumente palide, aspre, uscate, hemangiom cutanat tuberos (aprox. 1 cm) la nivelul flancului stng; tesut celular subcutanat slab reprezentat; sistem ganglionar superficial nepalpabil; hipotonie muscular generalizat; torace normal conformat, ampliaii simetrice, sonoritate normal bilateral, MV prezent bilateral, fr raluri, moderat obstrucie nazal; integru morfofuncional, articulaii libere, mobile, FA = 6/7 cm, normotensiv. Datele referitoarelacelelalteaparateisistemesuntnlimitenormale. Paraclinic NivelulTSHestemultpestelimitelenormale(750UI/ml),T4nedetectabilFT4nedetectabil. In urma ecografiei tiroidiene nu sa vizualizatesut tiroidian tipic n loja tiroidian (investigaie nerelevant). Diagnostic Hipotiroidismcongenitalprindisgeneziedetiroid. 3. Conduitaterapeutic Se incepe tratamentul medicamentos cu Euthyrox25 (levotiroxina sodic) tablete 25g p.o.; n primalunsevoradministra:1tablet/zinprimele10zile,apoi1tabletetimpdealte10zile, doza crescnduse la 2 tablete/zi n ultimele 10 zile ale lunii cnd se vor repeta testele hormonale, schema modificnduse n funcie de rezultate. La acesta se asociaza : Vigantol OEL (vitaminaD3)p.o.,2picturi/zipnlavrstade18luni; Ferrum Hausmann (complex polimaltozat de hidroxid de fier) soluie 50mg/1ml, 56 mg/kgcorp/zi, adic 30 mg/zi (6 picturi de 2 ori pe zi) timp de 3 luni; Tonotil N p.o. 1 fiol/zi, naintedemas,timpde10zile.

    4. Evoluie Pacientul revine la control dup 3 sptmni de tratament. Se remarc o scdere marcat a edemelor,otonicitatemaibun,pacientulestereactiv,urmretecuprivirea,inecapulnaxul trunchiului,serostogoleteactiv,stinezutsprijinit,zmbete. 5. Discuii n lipsa tratamentului de substituie (cum se putea ntmpla n perioada dinaintea introducerii testului de screening neonatal), copiii cu hipotiroidism congenital prezint o cretere defectuoas i o dezvoltare ntrziat. Dup civa ani, aceti copii dezvolt aspectul caracteristicalfeeiicorpuluicretinism.Persistenahipotiroidismuluisever,netratat,ducela retard mental sever, cu IQ sub 80 n majoritatea cazurilor, adeseori aceti copii fiind instituionalizai. 6. Concluzii Atunci cand ne confruntam cu un caz de hipotiroidism congenital prognosticul depinde de precocitateanceperiitratamentului,dedozadetiroxinsideseveritateahipotiroidismului.

    Majoritatea copiilor cu hipotiroidism congenital tratai corect cu tiroxin se dezvolt normal n toateaspectele. PrecocitateainstituiriitratamentuluiesteasociatcunivelulIQiesteabsolutnecesarpentrua preveni aparitia complicatiilor: retard mental profund, ntrziere sever n creterea staturali dezvoltareaosoasiproblemeneurologice:spasticitate,tulburridemers,dizartrie,hipotrofie statural, ntrziere a erupiei dentare, hipotonie muscular generalizat, bradicardie sinusal, dificultidenvare,pubertatentziat. Serecomandacontrolultratamentuluidesibstituiecuhormonitiroidieni.

    LaprimainternareDup3sptmni

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