Case Report
Brachium Pontis Stroke Revealing Neurofibromatosis Type-2
Gayathri Sreedher, MD, Ashok Panigrahy, MD, Sheila Y. Ramos-Martı́nez, MD, Hoda Z. Abdel-Hamid, MD,
Giulio Zuccoli, MD
From the Department of Radiology (GS, AP, GZ) and Department of Pediatrics, Division of child Neurology (SYRM, HZAH), Children’s Hospital of Pittsburgh, University of
Pittsburgh Medical Center, Pittsburgh, PA.

ABSTRACT
NF2 is an autosomal dominant disorder with neuroectodermal dysplasia. Most patients
present with characteristic clinical tumors during or beyond the adolescent age group.
The diagnosis is mainly clinical. Vasculopathy is rarely associated with NF2. Vascular
complication as the presenting symptom in NF-2 is unknown. We report a case of a 2year-old child with no prior family history of neurofibromatosis presenting with ataxia
and brain-stem stroke.

Keywords: Neurofibromatosis type 2,
vasculopathy, brain stem stroke.
Acceptance: Received December 1,
2010, and in revised form February 8,
2011. Accepted for publication March 15,
2011.
Correspondence: Address correspondence to Gayathri Sreedher, Department of Radiology, Children’s Hospital
of Pittsburgh, One Children’s Hospital
Drive 4401 Penn Avenue, Pittsburgh,
PA 15224. E-mail: doctor.sgayathri@
gmail.com.
J Neuroimaging 2011;XX:1-3.
DOI: 10.1111/j.1552-6569.2011.00609.x

Introduction
NF1 and NF2 are autosomal dominant disorders characterized
by dysplasia of neuroectodermal tissues and mesodermal dysplasia.1 Multiple cases of vasculopathy associated with NF1
including moya moya disease and infarct as well as renal artery
stenosis have been reported. However, vascular insult associated with NF2 is extremely rare and infarct as the presenting
symptom in a child under 5 years has never been reported.
Our case demonstrates the role of complete imaging workup
and magnetic resonance (MR) spectroscopy in the early diagnosis of NF2 given the bizarre clinical presentation and unusual
conglomeration of imaging findings.

Case Report
A 2-year-old girl presented with a history of fever and cough
for 1 week and acute onset of ataxia for 2 days. Her parents reported that she had several falls at home. On examination, the
patient was irritable but interactive. She had significant ataxia
on exam. The skin examination revealed several café au lait
spots over her left lateral chest wall, around 2 mm each. MR
brain disclosed calcified lesions in the left cerebellar hemisphere
and an intraaxial T2 hyperintense tumor-like lesion in the left
brachium pontis (Figs 1A–D). Of note is the presence of restricted diffusion in this lesion (Figs 1A and 2). An elevation of
lactate was noted on MR spectroscopy (Fig 1D). Findings were
highly suggestive of an infarct. MR angiography was unremark-

able and had no evidence of dissection or arterial narrowing.
MR spine revealed a cervical cord lesion with a focus of enhancement (Fig 3A) likely representing an ependymoma. Multiple lumbar nerve roots were enlarged being most prominent
at L3-L4 (Fig 3B). L3 spinal lesion was subsequently biopsied,
revealing schwannian proliferation with disruptive nerve fibers,
felt to be representative of schwannoma.
Based on these spinal and brain lesions as well as café au
lait spots on the skin, a diagnosis of NF1 with likely brain stem
infarct was suggested. Genetic testing for NF1 mutation was unremarkable. Genetic testing for NF2 revealed a heterozygous
truncating mutation in the NF2 gene (c.169 C>T), thus confirming diagnosis of NF2. At 2.5-month follow-up, the brainstem lesion had been replaced by a focus of gliosis as expected
for an infarct (Figs 1E–H). Spinal cord lesion is under regular surviellance and a decision was taken not to biopsy it
presently.

Discussion
NF2 is inherited as an autosomal dominant disorder, caused
by inactivating mutations of the NF2 gene in chromosome
22q12. Because detection of tumors at an early stage is effective in improving the clinical management of NF2, presymptomatic genetic testing is an integral part of the management
of NF2 families. The disorder occurs in 1:25,000; however, disease prevalence is on the rise due to earlier diagnosis.2 The

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Copyright C 2011 by the American Society of Neuroimaging

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Fig 1. (A–D) A lesion demonstrated in the left brachium pontis shows restricted diffusion (A, arrow), and T2 prolongation (B, C, arrows).
Elevated lactate peak and decreased NAA peak are seen on MRS (D). (E–H) 2.5-month follow-up. Resolution of the restricted diffusion (E),
and almost complete resolution of T2 and FLAIR prolongation with residual gliosis (F, G, arrows) are noted. Follow-up MRS shows myo-Inositol
(mI) and Cho peaks with decreased n-Acetly aspartate (NAA) confirming gliosis.
original National Institute of Health (NIH) criteria have been
expanded to include patients with no family history, who have
multiple schwannomas or meningiomas, but who have not yet
developed bilateral eighth nerve tumors.3 Although bilateral
vestibular schwannoma is classical, more than 50% of patients
present with other symptoms. Varied presenting features are
more common in children.4-6

Hence, there is a need for modification of the criteria for
diagnosis and a high index of suspicion in the pediatric age
group.

Manifestations in Children
The pattern of presentation and the natural history of NF2
in childhood differ from adulthood in many aspects.7 The
most common initial symptoms in adult onset NF2 are usually attributed to eighth cranial nerve dysfunction. However, in
the youngest NF2 age group subtle skin tumors, small posterior capsular cataracts or neurological signs secondary to
other than vestibular schwannomas and/or brain-stem or spinal
cord compression are more common and manifest long before

Fig 3. Postcontrast T1-weighted saggittal image through cervical
Fig 2. ADC Map at the level of the lesion shows decreased ADC
values consistent with cytotoxic edema.

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Journal of Neuroimaging Vol XX No X 2011

spinal cord shows cord expansion with tumor showing enhancing
focus posteriorly (A, arrows). Postcontrast T1-weighted axial image through lower lumbar spine shows enhancing L3/L4 nerve root
schwannoma (B).

dysfunction of cranial nerve VIII. Thus, the first sign of more
severe multitumor disease in early childhood is often a noneighth cranial nerve tumor. Vestibular schwannomas account
for 15-30% of initial presentation in pediatric NF2.7 Our case
also had calcification in the cerebellar hemisphere, which although unusual has been reported with NF-2 previously.3

Vasculopathy in NF-2
Vasculopathy is known in NF1. However, vasculopathy in NF2
is rare and only five cases have been described so far. Vascular complication as the presenting symptom of NF2 has never
been described to the best of our knowledge. The cases of
vascular dysplasia reported include a case of left middle cerebral artery stroke,1 brain stem stroke in a known NF2 adolescent, aneurysm of middle meningeal artery, and renal artery
dysplasia.1

Role of MRI
Based on the conglomeration of findings the diagnosis of possible neurofibromatosis was made. The lesion in the brain stem
was the stumbling block and was difficult to differentiate from
a glioma purely based on the standard imaging findings. Inclusion of diffusion weighted imaging and magnetic resonance
spectroscopy interrogation of the lesion in the regular MR protocol helped in the confident diagnosis of stroke over tumor.

Conclusion
Our case being the first reported case of infarct as presenting
symptom in NF2 makes it intriguing and highlights the importance of a complete neuroradiological evaluation in the pediatric age group. In view of our case and previous reported cases
of NF-2 associated with vasculopathy, this rare complication of
NF-2 should be kept in mind, particularly in the pediatric age
group.

References
1. Ryan AM, Hurley M, Brennan P, et al. Vascular dysplasia in neurofibromatosis type 2. Neurology 2005;65(1):163-164.
2. Sherman L, Xu HM, Geist RT, et al. Interdomain binding mediates tumor growth suppression by the NF2 gene product. Oncogene
1997;15:2505-2509.
3. Evans DGR. Neurofibromatosis type 2(NF2): a clinical and molecular review. Orphanet J Rare Dis 2009;4:4-16.
4. Nunes F, MacCollin M. Neurofibromatosis 2 in the pediatric population. J Child Neurol 2008;18:718-724.
5. Ruggieri M, Iannetti P, Polizzi A, et al. Earliest clinical manifestations
and natural history of neurofibromatosis (NF-2) in childhood: a study
of 24 patients. Neuropediatrics 2005;36:21-34.
6. Evans DGR, Birch JM, Ramsden RT. Paediatric presentation of type
2 neurofibromatosis. Arch Dis Child 1999;81:496-499.
7. MacCollin M, Mautner VF. The diagnosis and management of pediatric NF2 in childhood. Semin Pediatr Neurol 1998;5:243-252

Sreedher et al: NF-2 with Brachium Pontis Stroke

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