Nasal glioma is a rare congenital midline malformation composed of heterotopic masses of neuroglial tissue. We report a case of fetal nasal glioma diagnosed by sonography at 22 weeks' gestation as a vascular hypoechoic mass located on the left nasal bone. Fetal MRI excluded an underlying bone defect. At birth, the lesion appeared as a reddish mass. Post natal imaging confirmed the vascularisation within the lesion with an arterial low-flow velocity and a high-resistance spectrum, consistent with a glioma. The child underwent surgery at 5 months and final diagnosis was made on pathological examination. Therefore, a vascular lesion and a clinical aspect mimicking a haemangioma should not be considered sufficient to reach the final diagnosis.
Microsurgical or percutaneous epididymal sperm aspiration and intracytoplasmic sperm injection (ICSI) are proposed to overcome male infertility due to congenital bilateral absence of vas deferens (CBAVD). CBAVD has been associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and consequently, genetic counselling has to be addressed before beginning ICSI procedure. However, management of male infertility due to CBAVD should not ignore a mild form of cystic fibrosis. We describe the case of cystic fibrosis late diagnosis performed in a 49-year-old infertile men with CBAVD. CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype. Pneumological evaluation revealed a severe obstructive respiratory disease, bronchiectasis and high sweat chloride levels. Symptoms consistent with a cystic fibrosis have to be identified in infertile men with CBAVD before beginning assisted reproductive procedures.
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