Familial Occurrence of Unilateral Vestibular Schwannoma

• Published in: The Laryngoscope 1997-09, Vol.107 (9), p.1176-1180
• Main Authors: Bikhazi, Nadim B., Slattery, William H., Lalwani, Anil K., Jackler, Robert K., Bikhazi, Paul H., Brackmann, Derald E.
• Format: Article
• Language: English
• Subjects: Adult; Age Factors; Aged; Biological and medical sciences; Cranial Nerve Neoplasms - genetics; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Female; Follow-Up Studies; Gene Expression; Genetic Variation; Genomic Imprinting; Hearing Disorders - etiology; Humans; Infectious Disease Transmission, Vertical; Male; Medical sciences; Middle Aged; Neurilemmoma - genetics; Neurofibromatosis 2 - genetics; Neuroma, Acoustic - genetics; Otorhinolaryngology. Stomatology; Phenotype; Postural Balance; Probability; Retrospective Studies; Sensation Disorders - etiology; Sex Factors; Tinnitus - etiology; Tumors; Vertigo - etiology; Vestibular Nerve - pathology
• ISSN: 0023-852X; 1531-4995
• DOI: 10.1097/00005537-199709000-00004

Vestibular schwannoma (VS) may present clinically in one of two forms: sporadic unilateral or hereditary bilateral. Almost all cases of familial transmission have been associated with the diagnosis of neurofibromatosis type II (NF‐2). In this report, we describe nine families (18 individuals) presenting with unilateral VS without evidence of NF‐2. In four of the nine families, the affected individuals were of parent‐offspring relationship, in three families they were cousin‐cousin, and in the remaining two families, they were sibling‐sibling and aunt‐nephew. No other members of the families were diagnosed with NF‐2. There was no evidence for gender predilection or genomic imprinting among affected individuals. This study suggests that familial occurrence of unilateral VS may be genetically inherited as it occurs more commonly than would be estimated by chance alone. Future genetic studies will elucidate whether occurrence of unilateral VS in these families represents a variable expression of NF‐2, chance occurrence of unilateral VS in families, or a new genetic disorder.