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Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother's age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs.

A 35-year-old female with migraine without aura, presented with sudden onset of visual aura along with loss of vision on the left side. Following this she had nausea, vomiting and headache. Magnetic Resonance Imaging (MRI) performed at this stage revealed ill-defined lesions hyperintense on Flair images, located in the right temporal and right occipital region. Diffusion weighted images, MR angiogram, T1-weighted and T2-weighted images were normal. She got relief with symptomatic treatment. Twenty days after this attack of migrainous aura she had a similar episode. An MRI scan was performed again. It revealed similar lesions only in the right occipital lobe. Follow-up MRI performed seven weeks later was normal.