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J Pediatr Genet 2017; 06(03): 181-185
DOI: 10.1055/s-0037-1599223
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

P. Fontana
1   Department of Molecular Medicine and Medical Biotechnologies, “Federico II” University of Naples, Naples, Italy
,
D. Melis
2   Section of Pediatrics, Department of Translational Medical Sciences, “Federico II” University of Naples, Naples, Italy
,
A. D'Amico
3   Section of Diagnostic Imaging, Department of Advanced Biomedical Sciences, “Federico II” University of Naples, Naples, Italy
,
G. Cappuccio
2   Section of Pediatrics, Department of Translational Medical Sciences, “Federico II” University of Naples, Naples, Italy
,
G. Auletta
4   Department of Neurosciences, “Federico II” University of Naples, Naples, Italy
,
P. Vassallo
5   Department of Ophthalmology, “Federico II” University of Naples, Naples, Italy
,
R. Genesio
1   Department of Molecular Medicine and Medical Biotechnologies, “Federico II” University of Naples, Naples, Italy
,
L. Nitsch
1   Department of Molecular Medicine and Medical Biotechnologies, “Federico II” University of Naples, Naples, Italy
,
W. Buffolano
2   Section of Pediatrics, Department of Translational Medical Sciences, “Federico II” University of Naples, Naples, Italy
› Author Affiliations
Further Information

Publication History

02 November 2016

26 January 2017

Publication Date:
07 March 2017 (online)

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Abstract

Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. This study reports a case of a 3- year-old female patient with symptomatic cCMV infection who also exhibits developmental delay, dysmorphic facial features, bilateral hearing loss, and cochlear incomplete partition, type 2, in 7q21.3 deletion. This deletion includes the genes DLX5 and DLX6, which could be the candidate genes for the ear malformation named incomplete partition, type 2.

Keywords

cochlea - malformation - intellectual disability - syndrome - 7q21 deletion - DLX5 - DLX6

Note

Informed consent has been obtained from the patients.


 

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