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.

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome / D. Milani, F. Bonarrigo, S. Avignone, F. Triulzi, S. Esposito. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1720-8424. - 41:(2015 Jul 14), pp. 50.1-50.4. [10.1186/s13052-015-0156-0]

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

D. Milani
Primo
;
F. Bonarrigo
Secondo
;
F. Triulzi;S. Esposito
2015

Abstract

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.
Cranio-cervical junction; Klinefelter syndrome; Fraccaro syndrome; Sex chromosomal aneuploidies; X chromosome
Settore MED/38 - Pediatria Generale e Specialistica
14-lug-2015
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/295393
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