Transcript Frozen Globe in a Newborm - University of Louisville Ophthalmology

Grand Rounds Conference
Frozen Globe in a Newborn
Reema Syed
July 15, 2016
Department of Ophthalmology and Visual Sciences
Subjective
• CC
– “My child’s right eye does not move well”
• HPI
– 4 week old boy, born at term via scheduled
C-section, does not open or move right eye well
since birth
History
Birth History: Large for gestational age due to
maternal diabetes, scheduled C-section at term
due to breech presentation
Meds: Vitamin D
Allergies: none
Family Ocular History: strabismic amblyopia
(maternal uncle), optic nerve drusen (mother)
Exam
OD
OS
BCVA: Does not wince to light
Winces to light
Pupils:
4mm
4-2 mm OU
IOP (mmHg):
Firm OU 0
-4
-4
0
EOM:
-4
-4
-4
-4
Anterior Segment: Ptosis
0
0
0
0
WNL
Facial asymmetry, Ptosis OD, 30 Prism Diopter Esotropia OD
Dilated Fundus Exam
OD: Pigment mottling
throughout posterior pole
OS:WNL
B-Scan OD
Lobular structure posterior to OD
Assessment
• 4 week old male with facial asymmetry, complete
ophthalmoplegia and ptosis OD
•
-
DDx:
Congenital fibrosis of extraocular muscles
Congenital cranial nerve III, V and VI palsies
Orbital mass
• Plan:
- ECG to rule out cardiac rhythm abnormalities
- MRI brain
Follow-up
• ECG: normal sinus rhythm
T1: Right buphthalmos and
sphenoid wing dysplasia.
Hypointense orbital lesion
T2 fat suppressed: lesion is
Hyperintense to contralateral
orbital fat, no flow voids
T1 post-contrast:
lesion brightly
enhancing
Differentials: plexiform neurofibroma, venous malformation,
teratoma, neuroblastoma
Follow-up
• Bony sclerosis involving upper
margins of the orbits right>left of
uncertain etiology or significance
but may be related to orbital
findings seen on brain MRI.
• Genetic testing for NF-1: Negative
Sphenoid Wing Dysplasia
• Characteristic but not pathognomonic feature of
NF-1, seen in 5-10% of cases
• Approximately 50% of cases are associated with
neurofibromatosis type 1.
• Pathogenesis is poorly understood: primary
bone dysplasia or secondary to orbital invasion
of plexiform neurofibromas
Sphenoid Wing Dysplasia
• Patients can present with pulsating
exophthalmos, enopthalmos, vision impairment
or extra-ocular muscle impairment
Sphenoid Wing Dysplasia
• One of the 6 diagnostic criteria of
Neurofibromatosis-1
• NF-1/von Recklinghausen disease - an
autosomal dominant disorder caused by
mutation of neurofibromin gene on
chromosome 17
Role of genetic testing in NF-1
• NF1 gene is large and complex
• Types of mutations are diverse, ranging from the
total deletion of the NF1 gene, flanking genes and
non-coding genes, to a subtle change of only 1 of
base out of >300,000 bases of the NF1 gene.
• Comprehensive genetic analysis detects
pathogenic mutations in >95% of patients
• A translocation involving the NF-1 gene will not be
detected by the clinically available genetic test
Treatment of Sphenoid dysplasia
• Orbital reconstruction with bone graft via
intracranial route, requiring craniotomy
• Recently, lateral orbitotomy has been used as
an approach to the sphenoid wing, for
implanting a titanium re-inforced implant
J Craniomaxillofac Surg. 2014 Dec;42(8):1937-41 (University of Paris)
Ann Plast Surg. 2014;72(6):S107-11 (University of Tennessee)
Discussion points for the case
• Biopsy orbital mass?
• Possible exam under anesthesia with
fluorescein angiogram
• Awaiting neurosurgery and oculoplastics
consults
Thank you