Abstract
The Differential Diagnosis of a Patient with Unilateral Congenital Facial Paralysis: 3q21 Deletion
Highlights
Pediatric facial nerve paralysis can be congenital or acquired
Hereditary congenital facial palsy and Moebius syndrome is considered in the differential diagnosis
Hereditary congenital facial palsy (HCFP) is an autosomal dominant congenital dysinnervation syndrome, recognizable by the isolated dysfunction of the seventh cranial nerve. In this case report we offered a pediatric patient with unilateral Congenital facial paralysis (CFP) and we want to draw attention to the importance of genetic analysis
Summary
Pediatric facial nerve paralysis can be congenital or acquired. Congenital facial paralysis (CFP) originates from a structural defect in the facial nerve nucleus and/or cranial nerve, and is often associated with partial or complete absence of the facial nerve. Hereditary congenital facial palsy and Moebius syndrome is considered in the differential diagnosis. Hereditary congenital facial palsy (HCFP) is an autosomal dominant congenital dysinnervation syndrome, recognizable by the isolated dysfunction of the seventh cranial nerve. In this case report we offered a pediatric patient with unilateral CFP and we want to draw attention to the importance of genetic analysis. As the patient had isolated facial paralysis, there weren’t any phenotype characteristics or concomitant dysmorphic findings, cranial MRI showed no structural abnormality in the brain and brain stem, Moebius syndrome was eliminated from the differential diagnosis and CFP was considered. In the presented case cranial MRI showed the absence of structural anomalies in the brain and brain stem. Genetic analysis of Moebius syndrome patients shows that the 13q12-q13 band region (especially microdeletions in FG9, GSH1, and CDX2) is primarily responsible for the disease [11]
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