1. Grand Rounds Conference Frozen Globe in a Newborn
Reema Syed
July 15, 2016

2. Subjective CC HPI “My child’s right eye does not move well”
4 week old boy, born at term via scheduled
C-section, does not open or move right eye well since birth

3. 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)

4. Exam OD OS BCVA: Does not wince to light Winces to light
Pupils: 4mm mm OU
IOP (mmHg): Firm OU
EOM:
Anterior Segment: Ptosis WNL -4 -4 -4 -4 -4 -4

5. Facial asymmetry, Ptosis OD, 30 Prism Diopter Esotropia OD

6. OD: Pigment mottling throughout posterior pole
Dilated Fundus Exam
OD: Pigment mottling throughout posterior pole
OS:WNL

7. B-Scan OD
Lobular structure posterior to OD

8. 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

9. Follow-up ECG: normal sinus rhythm
T1: Right buphthalmos and T2 fat suppressed: lesion is T1 post-contrast:
sphenoid wing dysplasia. Hyperintense to contralateral lesion brightly
Hypointense orbital lesion orbital fat, no flow voids enhancing
Differentials: plexiform neurofibroma, venous malformation, teratoma, neuroblastoma

10. 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

11. 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

12. Sphenoid Wing Dysplasia
Patients can present with pulsating exophthalmos, enopthalmos, vision impairment or extra-ocular muscle impairment

13. 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

14. 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
Multiplex ligation dependent probe amplification, confirmed by FISH analysis. Complete cytogenetic analysis not performed

15. 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 Dec;42(8): (University of Paris)
Ann Plast Surg. 2014;72(6):S (University of Tennessee)

16. Discussion points for the case
Biopsy orbital mass?
Possible exam under anesthesia with fluorescein angiogram
Awaiting neurosurgery and oculoplastics consults

17. Thank you