Case ReportSubarachnoid Hemorrhage Because of Distal Superior Cerebellar Artery Dissection in Neurofibromatosis Type 1
Introduction
Neurofibromatosis type 1 (NF1) is inherited as an autosomal dominant trait, and its incidence is approximately 1 in every 3000 births. The common clinical manifestations of this disease include café-au-lait spots, axillary and inguinal freckling, a variety of peripheral neurofibromas, Lisch nodules (hamartomas of the iris), and various bone abnormalities.1 Vascular involvement in NF1 is well described in the literature. However, cerebrovascular abnormalities (stenosis, occlusion, aneurysm, pseudoaneurysm, and fistula) have rarely been found clinically. To our knowledge, to date, a dissection of the distal superior cerebellar artery (SCA) has not been described in a patient with NF1.
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Clinical Presentation
A 36-year-old woman with NF1 presented with sudden occipital headaches, nausea, and vomiting, and was referred to our hospital. On examination, no neurologic abnormalities were detected, but the patient had multiple “café-au-lait” spots on her trunk and limbs, and some freckles on her inguinal region. A computed tomography scan of the head demonstrated subarachnoid hemorrhage in the right interpeduncular and ambient cisterns (Figure 1A).
An angiogram revealed a lesion of an abnormal shape,
Discussion
NF1 has been attributed to mutations in the NF1 gene, located on chromosomal region 17q11.2.2
Typically, NF1 encodes a large protein, neurofibromin, which functions as a p21Ras (Ras) GTPase-activating protein to downregulate the Ras pathway. The loss of normal function of neurofibromin drives cell proliferation and migration, leading to cancer in patients with NF1 mutations.3, 4 It has also been reported that neurofibromin plays an important role in regulating the functions of bone
Conclusions
For the treatment of a distal dissection of the SCA in patients with NF1, NBCA glue embolization may be an effective approach to be used in the acute phase of subarachnoid hemorrhage. However, regular reevaluation of the blood flow is necessary because, with the presence of a rich collateral circulation, there is a risk of recurrence. If a rich collateral flow develops, additional trapping can be a useful strategy to consider.
Acknowledgment
We thank Editage (www.editage.jp) for English language editing.
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Conflict of interest statement: The authors declare that the article content was composed in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.