Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient

Serafini, Natália Battisti; Serafini, C; Vinhas, Alanna Santoro; Godinho, Marcio Barbosa

doi:10.1590/abd1806-4841.20176829

Cited by 9 publications

(10 citation statements)

References 8 publications

(13 reference statements)

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“…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].…”

Section: Discussionmentioning

confidence: 99%

“…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].…”

Section: Discussionmentioning

confidence: 99%

“…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].…”

Section: Introductionmentioning

confidence: 99%

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

Temelkova¹,

Tchernev²

2019

Open Access Maced J Med Sci

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BACKGROUND: Neurofibromatosis is a genetic disease with an autosomal dominant type of inheritance. It is a multisystem disease in which, besides skin manifestations, there is a possibility for the involvement of other organs and systems, and an atypical variant of neurofibromatosis type 1 can also be observed- the so-called plexiform neurofibroma. In patients with this inherited disease, mortality is higher due to the existing risk for malignant transformation and development of malignant peripheral nerve sheath tumours (MPNSTs) or neurofibrosarcoma. CASE REPORT: We present a 25-year-old woman with neurofibromatosis type 1 and a family history of the disease-father and grandmother with NF-1, with fatal outcome in the grandmother as a result of malignant transformation to neurofibrosarcoma. The patient has clinical data for multiple cafés- au- lait spots on the skin of the trunk, upper and lower limbs, and plexiform tumour formation in the seating area. From the performed imaging diagnostic there are available MRT data for 1) giant pelvic neurofibroma, 2) plexiform giant neurofibroma in the subcutaneous fat on the right thigh and gluteal fat tissue to the right, passing through the midline in the area of the external genitalia, leading to deformation of the front wall of the sacrum with bilateral meningoceles and 3) diffuse involvement of the bladder wall from the process in the area of the trigonum vesicae felleae/the two urethral ostium, as well as 4) the presence of neurofibromas in the course of the iliac vessels on the right. Surgical removal of the oval pelvic formation, identified as neurofibroma was planned, as well as the initiation of systemic therapy with Sirolimus for the plexiform sciatic formation, infiltrating the bladder. CONCLUSION: Neurofibromatosis type-1 is a problematic disease due to the parallel systemic involvement of different organs and systems, which can be both limited and diffuse. Limited tumour lesions in the form of neurofibromas with diverse localisation (as in the patient we describe) could be surgically removed without difficulty. On the other hand, the diffuse involvement of internal organs within a giant, network-3spreading plexiform neurofibromas (as in the described patient) makes interdisciplinary interventions impossible, and therefore therapeutic alternatives should be considered.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Temelkova¹,

Tchernev²

2019

Open Access Maced J Med Sci

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“…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].…”

Section: Methodsmentioning

confidence: 99%

“…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].…”

Section: The Diagnosis Of Nf1 Is Based On Clinical Criteria Established By Thementioning

confidence: 99%

Cutaneous manifestations in Moyamoya angiopathy: A review

Mitri

Bersano

Hervé

et al. 2021

Euro J of Neurology

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Background and purpose: Moyamoya angiopathy (MA) is a progressive cerebrovascular disease with a poorly understood pathophysiology. It is mainly characterized by progressive bilateral stenosis of the terminal intracranial part of the supraclinoid internal carotid arteries and the proximal parts of the middle and anterior cerebral arteries. This results in early‐onset ischemic or hemorrhagic strokes. The disease may be idiopathic (known as Moyamoya disease) or associated with other heritable or acquired conditions, including type 1 neurofibromatosis or other RASopathies, sickle cell disease, Down syndrome, or autoimmune disorders (known as Moyamoya syndrome). Apart from the brain, other organ manifestations including cutaneous ones have also been described in MA patients. Materials and methods: A literature research on PubMed was performed for articles mentioning the cutaneous association in MA and published between 1994 and October 2020. Conclusion: The present review summarizes the cutaneous associations as well as the coincidental dermatological findings seen in MA patients. Those include changes in the epidermis, dermis, or skin appendages for example café‐au‐lait spots, hypomelanosis of Ito, livedo racemosa, hemangiomas, premature graying of hair, chilblains etc.

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