Seizures as an Atypical Feature of Beal's Syndrome

• Published in: Sultan Qaboos University medical journal Vol. 16; no. 3; pp. 375 - 378
• Main Authors: Jaman , Nazreen B. K, Al-Sayegh , Abeer
• Format: Journal Article
• Language: English; Arabic
• Published: Muscat - Oman Sultan Qaboos University 01.08.2016; Sultan Qaboos University, College of Medicine and Health Sciences; Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences
• Subjects: Case Report; Case reports; congenital contractural arachnodactyly; Congenital diseases; DOMINANT GENES; Ears & hearing; Families & family life; fibrillin-2; HISTIOCYTOMAS; marfan syndrome; Multivariate analysis; Mutation; OMAN; Parents & parenting; Patients; seizures; SPASMS; أورام الخلايا النسيجية; التشخيص; التشنجات; الجينات السائدة; دراسات الحالة; عمان; متلازمة بيل; Marfan Syndrome; Congenital Contractural Arachnodactyly; Fibrillin-2; Oman; Case Report; Seizures
• ISSN: 2075-051X; 2075-0528
• DOI: 10.18295/squmj.2016.16.03.021

Congenital contractural arachnodactyly, commonly known as Beal’s syndrome, is an extremely rare genetic disorder caused by mutations in the fibrillin-2 (FBN2) gene located on chromosome 5q23. It is an autosomal dominant inherited connective tissue disorder characterised by a Marfan-like body habitus, contractures, abnormally shaped ears and kyphoscoliosis. We report a seven-year-old Omani male who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2014 with seizures. He was noted to have certain distinctive facial features and musculoskeletal manifestations; he was subsequently diagnosed with Beal’s syndrome. Sequencing of the FBN2 gene revealed that the patient had a novel mutation which was also present in his mother; however, she had only a few facial features indicative of Beal’s syndrome and no systemic involvement apart from a history of childhood seizures. To the best of the authors’ knowledge, this is the first report of Beal’s syndrome with seizure symptoms as a potential feature