Transcript Grand Rounds 2007

Grand Rounds
July 20, 2007
Marc Moore, MD
PGY-3
HPI
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8 yo WM presents with c/o left eye
crossing in.
What else do want to know?
Med Hx: failure to thrive
Surg Hx: tumor removal from hand and
intestines at birth
Meds: Liprum, Adeks
All: NKDA
FamHx: sister with eye movement
disorder of unclear etiology which
resolved w/i weeks (5 yrs ago); sister
with recent viral resp infection
ROS: noncontributory
VA: 20/30+2 OD, 20/25 OS
Mot: see pic
Pupils: no RAPD, no anisocoria
PLE:
 Ext/Lids: wnl OU
 Conj: quiet OU
 K: clear OU
 A/C: deep OU
 Iris: wnl OU
 Lens: wnl OU
Differential Dx of CN VI palsy
ACUTE
 Postviral
 Increased ICP
 Idiopathic Intracranial
Hypertension
 Congenital hydrocephalus
 Encephalitis
 Neoplasm
 Pontine glioma
 Posterior fossa
medulloblastoma
 Trauma
 Gradenigo syndrome
CHRONIC
 Duane syndrome
 Thyroid Eye Disease
 Myasthenia gravis
 Mobius syndrome
 Congenital esotropia
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Dx postviral CN VI palsy. Monitor 1-2
weeks.
Pt RTC 2 weeks later with no improvement
in symptoms. Maybe slightly worse. MRI
ordered.
MRI could not be completed due to
sedation issues. CT shows left cavernous
sinus fullness.
Pt returns to clinic again 1 week later (3
weeks p presentation) again with no
improvement. MRI again ordered.
MRI
Schwannoma
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Schwann cell tumor that arises as an
outpouching from peripheral or cranial
nerves
Neural crest origin
Associated with neurofibromatosis
Intracranial schwannomas most often
arise from sensory nerves, seldom from
purely motor nerves
Schwannoma
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All cranial nerves (except I and II) have
myelinated sheaths of Schwann cells, thus
are potential sites for schwannomas
Zone of transition from myelination by
oligodendroglia in CNS to Schwann cells is
variable
Transition zone ranges from 1-4 mm from
exiting brainstem
Cranial Nerve VI Schwannoma
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Very low incidence
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13 cases reported in the literature
4 of 13 within the cavernous sinus
Tung et al. classified into 2 types
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Type 1: arises in cavernous sinus; presents
with diplopia and CN VI palsy
Type 2: arises in prepontine region; presents
with hydrocephalus, elevated ICP, CN VI palsy
More history
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Pt carries diagnosis of Infantile
Myofibromatosis
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First described by Stout in 1954
Classified as one of the fibrous proliferations
of childhood
Multiple fibroblastic tumors involving skin,
striated muscles, bones and viscera
Tumors present at birth or develop during the
first weeks of life
Infantile Myofibromatosis (IM)
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Multiple soft tissue nodules occur as in
neurofibromatosis. These often
spontaneously regress.
Prognosis is poor when several internal
organs are affected; 80% such infants die
within first 4 months of life
Debate of autosomal recessive vs.
autosomal dominant
More Family History
Mother, maternal uncle, and 2 cousins
with myofibromatosis
 15 yo brother with myofibromatosis
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NLP OS from biopsy-proven orbital apex
myofibroma
 Multiple intracranial calvarial lesions
which wax and wane
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MRI
More Family History
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13 yo sister with myofibromatosis
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H/o CN VI palsy of unclear etiology
Waxing and waning calvarial lesions
Latest MRI: new left orbit enhancing roof
lesion anteriorly and laterally which causes
some mild mass effect on the adjacent left
orbit fat but not the extra-ocular muscles
MRI
IM with Choroidal Involvement
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4 mo boy with 3 purple, spherical, nontender, non-mobile nodules on his skull
and 1 over left scapula
Normal physical examination at birth
Biopsy showed plump spindle cells
arranged in short fascicles consistent with
IM
Imaging showed cervical spine and liver
involvement
IM with Choroidal Involvement
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Pt began chemotherapy at 6 mo
At 9 mo, noted central vision loss OD
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Presumed choroidal myofibroma with
overlying choroid NV and serous RD
Small tumor noted OS
Authors recommend careful ophthalmic
exam in patients diagnosed with IM
Case Reports
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4 yo presented with mass of the
inferolateral orbital rim. Lesion surgically
excised and pathology confirmed
myofibroma. Pt did well.
11 day old with LLL and medial canthus
lesion. Mass grew and was removed at 2
months. Myofibroma shown on histology.
Again, pt had no ocular sequela.
Our Patient
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Exam has remained stable
Will continue to monitor
Unclear if schwannoma is related to
myofibromatosis (no other reports in
literature)
Consider neurosurgical evaluation
Take Home Points
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May monitor CN VI palsy initially, but
imaging is warranted if symptoms do not
improve
Although rare, pt with infantile
myofibromatosis warrant ophthalmic
evaluation
References
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Acharya R, Husain S, Chhabra SS, Patir R, Bhalla S, Seghal AD. Sixth nerve
schwannoma: a case report with literature review. Neurol Sci. 2003
Jun;24(2):74-9.
Day M, Edwards AO, Weinberg A, Leavey PJ. Successful Therapy of a
Patient With Infantile Generalized Myofibromatosis. Med Pediatr Oncol.
2002; 38: 371-373
Duffy MT, Harris M, Hornblass A. Infantile Myofibromatosis of Orbital Bone.
Ophthalmology 1997; 104: 1471-74
Fibromatosis, Congenital Generalized. Online Mendelian Inheritance in Man
Lee MS, Galletta SL, Volpe NJ, Liu GT. Sixth Nerve Palsies in Children.
Pediatr Neurol 1999; 20; 49-52
Linder JS, Harris GJ, Segura AD. Periorbital infantile myofibromatosis. Arch
Ophthalmol 1996 Feb; 114(2): 219-22
Lo PA, Harper CG, Besser M. Intracavernous schwannoma of the abducens
nerve: a review of the clinical features, radiology and pathology of an
unusual case. J Clin Neurosci. 2001 Jul;8(4):357-60
Stout AP. Juvenile fibromatoses. Cancer 1954; 7:953-78
Tung H, Chen T, Weiss MH. Sixth nerve schwannomas. Report of two cases.
J Neurosurg 1991 75:638-641
Yanoff: Ophthalmology, 2nd ed., Copyright © 2004 Mosby, Inc. 730-45