RESUMO
Complete agenesis of the olfactory bulbs (OB) constitutes a rare cause of congenital anosmia, which is more often associated with cerebral malformations or genetic disorders. The authors present a very rare case of a 28-year-old caucasian male with complaints of complete lack of the sense of smell since childhood. Radiologic study confirmed complete bilateral agenesis of the OB, with no other radiologic or clinical findings, such as delayed sexual development. Laboratorial investigation confirmed no signs of adrenocortical insufficiency. Despite being immature in the term neonate, the OB are already functional at birth. Congenital agenesis of the OB can occur as an isolated deformity. On the other hand, it is a constant feature of several genetic syndromes, such as Kallmann's syndrome or alobar holoprosencephaly. Most cases of isolated congenital anosmia occur sporadically, with no family history of the condition. Given the fact that no curative treatment is available, counselling for daily living precautions should be given to all patients. This is one of the first case reports about complete and isolated agenesia of the OB diagnosed in adulthood. The authors highlight the need to exclude several genetic syndromes that may be associated, albeit in a dissimulated way.
RESUMO
Paediatric sinonasal tumours comprise numerous aetiologies. Ewing's sarcoma (ES) consists of a malignancy of neuroectodermal origin. This type of sarcoma affects mainly children and adolescents and can assume the skeletal or extra-skeletal form. Primary ES of head and neck is extremely rare, accounting for only 4%-9% of all cases. So far, as much as we know, only a few cases of sinonasal ES have been reported in literature. The authors present a case of a previous healthy 12-year-old girl who presented with a rapidly growing and expansive frontal mass and unilateral nasal obstruction. Immunohistochemical, molecular and cytogenetic analysis of the lesion showed diffuse expression of CD56 and CD99 on tumour cells and a translocation involving chromosome 22q12, confirming ES diagnosis.
