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

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

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 EOM: Anterior Segment: Ptosis WNL -4 -4 -4 -4 -4 -4

Facial asymmetry, Ptosis OD, 30 Prism Diopter Esotropia OD

OD: Pigment mottling throughout posterior pole 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 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

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

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

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