Moyamoya syndrome and neurofibromatosis type 1 in a 5 yr old
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Introduction
Neurofibromatosis type 1 (NF1) or von Recklinghausen is the most common neurocutaneous contidion with an autosomal dominant pattern of inheritance. 1/3 of cases are new mutations. This genetic disorder caused by mutations of the NF1 gene which is located on chromosome 17(17q11.2). Patients with NF1 may present with a variety of central nervous system complaints, such as seizures, learning disability and attention-deficit disorder. Intracranial lesions associated with NF1 include optic gliomas, sphenoid wing dysplasia, “unidentified bright objects” (UBOs). Cerebrovascular lesions such as moyamoya syndrome are rarely seen in NF1. Herein, we report of a 5-year-old female with NF1 and moyamoya syndrome and we briefly review the existing literature.

Case report
A 5 year-old female was admitted to the hospital with a history of acute right-sided weakness. The physical examination revealed several café-au-lait spots (larger than 0.5 cm) and freckling in the inguinal area and the axillae, thus fulfilling diagnostic criteria for NF1. The neurologic examination demonstrated right spastic hemiplegia with increased muscle tone of upper and low extremities, increased tendon reflexes as well as right facial nerve palsy.Regarding the NF1 work-up, including laboratory investigations, complete blood cell count, blood biochemistry, radiographs of long bones, electroencephalogram, visual and brainstem auditory evoked potentials, echocardiography, abdominal ultrasound and ophthalmologic examination were normal. Brain magnetic resonance imaging (MRI) of the brain, showed multiple small foci of T2 prolongation in the right periventricular white matter, as well as both globus pallidi and cerebellar hemispheres (“unidentified bright objects” -UBOs). These lesions were hypointense on T1-weighted images, did not show any mass effect, and did not enhance after intravenous contrast injection. Also, multiple dot-like flow-void enhancing areas in basal gaglia and thalamus representing lenticulostriade collateral vessels were seen....

https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-40-59
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