An: 2023, Nr.3, Articol Nr. 4

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      DI-GEORGE SYNDROME WITH MULTISYSTEM ANOMALIES – A POST-MORTEM DISSECTION (Abstract): Di-George syndrome (DGS) is a genetic disorder with broad phenotypic presentations. The hallmarks of DGS include conotruncal abnormalities, absence or hypoplasia of the thymus and parathyroid glands. Here we report an extremely rare case of Di-George syndrome characterized with an absent or hypoplastic thymus, congenital cardiac defects, hypocalcemia due to parathyroid hypoplasia, unilateral adrenal agenesis, imperforated anus and cranial nerves anomalies. During a routine dissection of a donated full term male neonate (weight: 2800gr), multiple anomalies were noticed. Examination of the nasal cavity revealed accessory middle turbinate bilaterally. On the right posterior crania fossa trigeminal, facial and vestibulocochlear nerves showed a diapason pattern, dividing near the internal acoustic meatus, while on the left side the same pattern was observed between the trigeminal and abducent nerves. Thoracic cavity and mediastinum were inspected and we noticed that thymus gland was absent. Additionally, pulmonary trunk variation, right side undescended testis, imperforate anus, left kidney with lobulated appearance (21 lobes) and left adrenal agenesis were noticed. The present case represented wide spectrum of the anomalies and variations including accessory middle turbinate and adherent trigeminal nerve with abducent, facial and vestibulocochlear (diapason pattern) which have not been addressed in the literature.

Key words: DI-GEORGE SYNDROME, ACCESSORY MIDDLE TURBINATE, ARANIAL NERVES, UNDESCENDED TESTIS, CASE REPORT