Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient

Abstract

Neurofibromatosis type 1 is a multisystem genetic disease of autosomal dominant transmission that reveals important cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, and ephelides in skin fold areas, as well as hamartomatous lesions in the eyes, bones, glands, and central nervous system. Moyamoya disease is a rare progressive vaso-occlusive disorder that occurs with important ischemic cerebrovascular events. Despite the rarity of this association in childhood, children diagnosed with neurofibromatosis type 1 and focal neurologic symptoms should be investigated for moyamoya syndrome. The present study reports the case of a pediatric patient with a rapidly progressive cerebrovascular accident and a late diagnosis of Neurofibromatosis type 1 associated with moyamoya disease.

Giant Pelvic Neurofibroma in Patient with Plexiform Sciatic Neurofibroma and Neurofibromatosis Type 1

“…Data on patients with neurofibromatosis have existed since XIII and XVI centuries, and as early as 1785- Mark Akensidi describes a case about a patient who was nicknamed “wart man” [1]. Subsequently, various descriptions and definitions of the disease arise, and it is currently thought that Neurofibromatosis type 1 (NF-1) or von Recklinghausen’s disease is a disease of autosomal dominant transmission that is thought to have mutations in the NF1 gene on the long arm of chromosome 17 (17q11.2), resulting in a decrease in the production of neurofibromin protein, resulting in a lack of control of cell growth and division [2].…”

“…According to the majority of authors’ collectives, patients with neurofibromatosis should be closely monitored and, where possible, excision of skin tumours or surgical treatment should be performed [1], [2], [3]. In many cases, however, surgical excision is complicated due to the involvement of the main nervous branches within the plexiform neurofibromas, and then the possibility of relapse after resection depends on the possibility of total or partial resection [4].…”

“…It is estimated that about one million people worldwide are living with NF [1]. Neurofibromatosis type 1 is a multisystem autosomal dominant disease, with cutaneous manifestations such as café-au-lait spots, multiple neurofibromas, ephelides in the skin fold areas, and hamartomatous lesions in the eyes, bones, glands and the central nervous system [1], [2]. Uncommon variants of NF-1 are the so-called plexiform neurofibromas in which neurofibromas arise from multiple nerves that may also engage connective tissue and skin folds and are clinically described as “bags of worms” [3].…”

Cutaneous manifestations in Moyamoya angiopathy: A review

“…The association between MA and NF1 has been reported in several cases. The prevalence of MA in NF1 pediatric patients is approximately 0.6% [11,12]. Furthermore, MA was found in almost 50% of patients with both cerebral vasculopathy and NF1 [3].…”

“…The association between MA and NF1 has been reported in several cases. The prevalence of MA in NF1 pediatric patients is F I G U R E 1 Numerous skin-colored and firm nodules (neurofibromas) as well as brown macules (café-au-lait spots) on the torso of a neurofibromatosis type 1 patient with Moyamoya angiopathy [Colour figure can be viewed at wileyonlinelibrary.com] F I G U R E 2 Axillary freckling in the patient also illustrated in Figure 1 with Moyamoya angiopathy [Colour figure can be viewed at wileyonlinelibrary.com] approximately 0.6% [11,12]. Furthermore, MA was found in almost 50% of patients with both cerebral vasculopathy and NF1 [3].…”