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Trisomia 18 o sindrome di Edwards


La sindrome di Edwards è una malattia genetica rara caratterizzata dalla presenza di un cromosoma 18
 Trisomia 18 o sindrome di Edwards

Generalità

 

La trisomia 18 o sindrome di Edwards è un’ anomalia cromosomica caratterizzata dalla presenza di un cromosoma 18 in sovrannumero. La trisomia 18 o sindrome di Edwards fu descritta per la prima volta da Edwards nel 1960. L’incidenza della malattia è stimata in circa 1/6000-1/8000. Oltre il 95% dei feti affetti da trisomia 18 o sindrome di Edwards muore in utero. Per motivi non noti, il tasso di sopravvivenza è più alto nelle femmine rispetto ai maschi, con una predominanza delle femmine tra i soggetti nati vivi con trisomia 18. Il genotipo è variabile: nell’80% dei casi è dovuta ad una trisomia libera, causata dalla non disgiunzione meiotica per lo più materna; nel 10-15%  è presente un mosaicismo, dovuto alla non disgiunzione post-zigotica. Il rimanente è dovuto ad una traslocazione robertsoniana. La Trisomia 18 in mosaico è stata osservata in alcuni pazienti che presentano un quadro clinico che varia dalla forma classica di trisomia 18 a fenotipo normale.

 

Quadro clinico nella Trisomia 18 o sindrome di Edwards

 

Il quadro clinico è caratterizzato da grave ritardo mentale e dalla crescita pre e post-natale con aspetto:

  • emaciato
  • ipotrofia
  • microcefalia (con cranio  piccolo)
  • dolicocefalia (forma allungata e stretta del cranio, anomalie della faccia e della testa)
  • micrognazia (sviluppo anomalo della mandibola, che appare di volume e dimensioni ridotti)
  • ipertelorismo (deformazione cranica che distanzia le due orbite oculari,) 
  • ipoplasia (sviluppo anormale, incompleto o ridotto di un organo)
  • orecchie angolate
  • anomalie degli arti
  • colonna vertebrale ricurva
  • scoliosi
  • grave ritardo psicomotorio

 

 Anomalie dei piedi:

  • piede equino/varo o  a picozza, con sovrapposizione delle dita, il quinto e il secondo dito ricoprono il quarto e il terzo.

 

Nelle prime settimane di vita sono presenti:

  • ipotonia
  • iperreattività
  • difficoltà alimentari (scarsa suzione). 

Si possono presentare inoltre:

  • malformazioni cardiache nel 90%  dei casi;
  • anomalie del tubo digerente (diastasi dei retti, ernia inguinale/ombelicale);
  • anomalie genito-urinarie, agenesia renale ( mancanza di uno o entrambi i reni)

 

Diagnosi prenatale

In epoca prenatale sono presenti segni di sospetto quali:

  • polidramnios
  • placenta piccola
  • ritardo di crescita 
  • malformazioni
  • cisti multiple dei plessi corioidei
  • scarsi movimenti fetali
  • presentazione podalica

Alla nascita i  segni possono essere:

  • basso peso
  • necessità di rianimazione neonatale
  • basso indice di Apgar
  • pianto debole
  • ipotonia 


 

Diagnosi della trisomia 18 o sindrome di Edwards

La diagnosi può essere confermata dall’esame citogenetico.  Il rischio di ricorrenza  di trisomia 18 nelle famiglie con un caso è di circa 1%. Tuttavia, nelle famiglie nelle quali la trisomia 18 è causata da una traslocazione, il rischio di ricorrenza è maggiore, in particolare se un genitore è portatore di una traslocazione bilanciata. La diagnosi prenatale può essere sospettata con l’evidenza ecografica dei segni prenatali e può essere confermata con l’analisi del cariotipo fetale. Anche i marcatori sierici utilizzati per la diagnosi di trisomia 21 possono essere alterati. La presa in carico è solo di supporto e deve essere multidisciplinare.

 

Trattamento

 

Il trattamento chirurgico delle malformazioni riesce a migliorare solo minimamente la prognosi infausta di questa sindrome. Il 90% dei bambini muore nel primo anno di vita a causa delle complicazioni cardiache, renali o neurologiche o delle infezioni ricorrenti. La sopravvivenza dipende soprattutto dal tipo di anomalia cromosomica, dalla gravità e dalla compatibilità con la vita delle malformazioni presenti. Sono stati osservati pazienti sopravvissuti in alcuni casi fino all’età adulta, soprattutto in presenza di trisomia in mosaico o in trisomia parziale (secondaria a traslocazione). La maggioranza dei pazienti  non in mosaico sviluppa un’ autonomia molto limitata (assenza del linguaggio e della deambulazione). Il ritardo della crescita è significativo.

 

Ti potrebbero interessare:

 

 

Trisomia 13-Sindrome di Patau

 

 

Sindrome di Turner

 

Trisomia-Wikipedia 

 

 

 

 

 

 


 

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