Case Report: Marfan’s Syndrome with Neurofibromatosis Type-2

Abstract

Background Marfan’s syndrome (MFS) and neurofibromatosis type-2 (NF-2) are rare autosomal dominant diseases caused due to mutations in chromosome number 15 and 22, respectively. The chance of both the diseases occurring in the same patient is extremely rare. Case presentation In this report a rare case of a 16-year-old boy having a coexistence of both MFS and NF-2 is reported. The clinical findings consisted of musculoskeletal abnormalities consisting of laxity of joints, positive Steinberg thumb sign test, positive Walker-Murdoch wrist test, dolichostenomelia, and arachnodactyly. Anthropometric abnormalities reported an increase in lower segment height than the upper segment. Diagnostic assessment revealed pectus carinatum, multiple meningioma, and heterogeneous lesions in bilateral cerebellopontine angle that were ruled out as bilateral schwannoma confirming the diagnosis of MFS and NF-2. However, both must be regarded as novel mutations, and as the position of the two genes is unrelated, it is most probable that two different mutations have occurred. β-blocker was recommended as a prophylactic measure to minimize aortic root stiffness and control aortic root dilatation. Furthermore, surgery and radiation therapy were planned for the management of NF-2; however, the patient expressed skepticism regarding the course of treatment and follow-ups; as a result, this data was reported at the time of discharge with non-specified duration of follow-ups. Conclusions This case report demonstrates a rare case of MFS which is caused due to mutation in chromosome number 15 along with NF-2 which is caused due to mutation in chromosome number 22. Since the positions of the two genes are unrelated, it is concluded that two distinct mutations have occurred. As a result, this report highlights a rare coexistence of both mutations, which will benefit the medical profession in enhancing future studies.