48, XXXY/49, XXXXY mosaic: New neuroradiological features in an ultra-rare syndrome

Donatella Milani, Francesca Bonarrigo, Sabrina Avignone, Fabio Triulzi, Susanna Esposito

Research output: Contribution to journalArticlepeer-review


Background: Sex chromosomal aneuploidies in males are rare diseases with an overwhelming involvement of endocrinological and auxological issues; less frequently, other anomalies are observed. Neuroradiological issues are often not taken into account in single patients, and neuroradiological examinations are rarely performed. Case presentation: Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia, and some neuroradiological features so far not described. The Magnetic Resonance Imaging showed white matter abnormalities and enlargement of lateral ventricles with never described dysmorphisms of cranio-cervical junction and posterior fossa. A cranio-cervical Computerized Tomography confirmed a dysmorphic aspect of the posterior fossa and occipital condyles, slight morphological asymmetry of C1 and slight lateralization to the right of the odontoid's apex. Conclusions: Considering the possible relevant clinical impact of these findings, the neuroradiological assessment seems potentially useful to the diagnostic approach of these patients.

Original languageEnglish
Article number50
JournalItalian Journal of Pediatrics
Issue number1
Publication statusPublished - Jul 14 2015


  • Cranio-cervical junction
  • Fraccaro syndrome
  • Klinefelter syndrome
  • Sex chromosomal aneuploidies
  • X chromosome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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