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Year : 2004  |  Volume : 14  |  Issue : 2  |  Page : 141-142
Multiple cerebral aneurysms associated with neurofibromatosis type 1 in a child : A case report and review of literature

Clarity MRI Centre, 163, Gokale Street, Ramnagar, Coimbatore-641009, Tamilnadu, India

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Keywords: Aneurysms, Neurofibromatosis Type I

How to cite this article:
Murugan K S. Multiple cerebral aneurysms associated with neurofibromatosis type 1 in a child : A case report and review of literature. Indian J Radiol Imaging 2004;14:141-2

How to cite this URL:
Murugan K S. Multiple cerebral aneurysms associated with neurofibromatosis type 1 in a child : A case report and review of literature. Indian J Radiol Imaging [serial online] 2004 [cited 2021 Feb 25];14:141-2. Available from:

   Introduction Top

Neurofibromatosis type I or von Recklinghausen's disease is a hereditary neurocutaneous syndrome that may involve any organ or system of the body, including rarely the vascular system. Among the rare cerebrovascular abnormalities, more than 85% cases are of purely occlusive or stenotic nature with intracranial aneurysm being uncommon. We report a case of child with neurofibromatosis type I presenting with multiple intracranial aneurysms.

   Case description Top

A 10-year-old girl presented with episodic headache. No history of seizures, fever or vomiting was present. No neck rigidity was found. On clinical examination she was found to have widespread cutaneous neurofibromata and Cafι au lait spots. Neurological examination including cranial nerve evaluation was normal with no deficits. Laboratory findings were within normal limits. MRI evaluation of the brain was done.

On T2 weighted images [Figure - 1], bilateral asymmetric hyperintensities were noted in the external capsule, putamen and globus pallidus. Discrete hyperintensities were also noted in the pons, cerebral peduncles and periventricular white matter [Figure - 2]. The lesions were hypointense on the corresponding T1 weighted images. No abnormal contrast enhancement was noted [Figure - 3]. M.R. cerebral angiogram revealed two intracranial aneurysms [Figure - 4].

   Discussion Top

Neurofibromatosis type 1, described by von Recklinghausen in 1882, is the most common of all the phakomatoses with a reported incidence of 1 in 3000 to 5000 in the general population. It is not a single entity but is actually a group of heterogeneous diseases affecting many systems [1]. Well-defined clinical criteria are available for the diagnosis.

Central nervous system manifestations occur in 15% to 20% of all patients with NF-1. They include neoplasms, non-neoplastic hamartomatous lesions, skull and meningeal dysplasias, spine / cord / or nerve root lesions and vascular abnormalities. Vascular abnormalities associated with NF-1 predominantly involve the renal and gastrointestinal systems, with involvement of the cranio-cerebral vessels being relatively rare.

Among the rare cerebrovascular abnormalities found in patients with NF-1, the most common is stenosis or occlusion of the cerebral arteries, which may have an appearance like the moyamoya disease [2],[3]. Cerebral aneurysms and arteriovenous fistulae are described as well, although less commonly [4]. Subata et al [5] reviewed 43 cases of cerebrovascular manifestations of NF-1 and classified them into three groups: Group A, occlusive disorder only; Group B, cerebral aneurysm only; Group C, combined lesions of group A and B. Among those 43 cases, only 10 were associated with cerebral aneurysms and a female predominance was noted. In our case there were two intracranial aneurysms, one at the right middle cerebral artery bifurcation and the other at the posterior communicating artery origin from the right internal carotid artery. No vascular occlusive features were noted.

Non neoplastic brain parenchymal abnormalities are observed in nearly 80% of all patients with NF-1 [6]. Multiple T2 hyperintense lesions in the brainstem, cerebellar white matter, basal ganglia, periventricular white matter and optic radiations are common. The radiologic criteria for distinguishing these lesions as 'hamartomas' (rather than neoplasm) are absence of mass effect, absence of vasogenic edema, absence of contrast enhancement or hemorrhage. One exception to the above imaging features is lesions in the globus pallidus. They demonstrate abnormally high signal intensity on T1 weighted images in more than half the patients who have them and often with mild mass effect [7].

These parenchymal lesions of NF-1 begin to appear at about 3 years of age, increase in number and size until 10 or 12 years and then they decrease in number and size. They are very rare in patients over the age of 20 years. Though the imaging features can resemble acute disseminated encephalomyelitis, the clinical presentation is different. In our case, multiple parenchymal T2 hyperintensities were seen in the pons, cerebral peduncle, basal ganglia and periventricular white matter. No T1 shortening was noted in the globus pallidus. No mass effect or contrast enhancement was noted either.

In conclusion, neurofibromatosis type I is a rare cause of intracranial aneurysms in children. When the typical brain parenchymal abnormalities are detected, screening with M.R angiogram is necessary to identify these rarely associated aneurysms.

   References Top

1.Elster AD: Radiologic screening in the neurocutaneous syndromes: strategies and controversies, AJNR 1992; 13 : 1078-1082.  Back to cited text no. 1    
2.E.Klause, J.Nekula, E.Minarikova and H.Farkova, Von Recklinghausen's neurofibromatosis with intracranial stenosis of the internal carotid artery and orbito sphenoidal bone dysplasia. ROFO 1978 ; 129 : 250-252.  Back to cited text no. 2    
3.R.G.Leone, S.G.Shatzki and E.R. Wolpow, Neurofibromatosis with extensive intra cranial arterial occlusive disease. AJNR 1982 ; 3: 572-576.  Back to cited text no. 3    
4.Schievink WI, Piepgras DG. Cervical vertebral artery aneurysms and arteriovenous fistulae in neurofibromatosis type I; Case reports. Neurosurgery 1991; 29: 760-765.  Back to cited text no. 4  [PUBMED]  
5.E.Subata, H.Ohkuma and S.Suzuki, Cerebrovascular disorders associated with Von Recklinghausen's neurofibromatosis: a case report. Neurosurgery 1988 ; 22:544-549.  Back to cited text no. 5    
6.Sevick RJ, Barkovich AJ, Edwards MSB et al: Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJR 1992; 159: 171-175.  Back to cited text no. 6    
7.Aoki S, Barkovich AJ, Nishimura K, Kjos B. Neurofibromatosis types 1 and 2: cranial MR findings. Radiology 1989; 172: 527-534.  Back to cited text no. 7    

Correspondence Address:
K S Murugan
Clarity MRI Centre, 163, Gokale Street, Ramnagar, Coimbatore-641009, Tamilnadu
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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]

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