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To our knowledge, this is the first reported case of lipemia retinalis where the treatment of the underlying hyperlipidemia resulted in reversal of the decreased scotopic rod responses and the decreased scotopic awave on ERG along with improved visual acuity. Rabbit models suggest that hypercholesterolemia may contribute to chronic ischemic processes in the inner retina, with lasting damage despite normal dietary cholesterol. As Lu and colleagues speculated,6 scattering and obscuration of light by chylomicrons in the blood resulting in decrease in the ERG responses could be a possible mechanism for the retinal response. Normal b-wave responses on ERG did not indicate inner retinal dysfunction in our case; however, we found that there was a change in scotopic bwave responses where initial scotopic b-waves responses were borderline normal, later improving to above mean normal values in both eyes. There was also a change in photopic cone b-wave responses, where initial phototopic cone b-wave responses were normal and later doubled in magnitude of cone bwave amplitude in the right eye. It is important to note that retinal dysfunction in this case reversed with appropriate monitoring and intervention for hyperlipidemia, the underlying effect of which on the human retina remains unclear.

Literature Search PubMed was searched without date restriction on April 21, 2014, using the following terms: lipemia retinalis, electrophysiology, electroretinogram (ERG), visual acuity, AND/OR lipoprotein lipase deficiency. Foreign language articles with abstracts in English were included.

References 1. Rayner S, Lee N, Leslie D, Thompson G. Lipaemia retinalis: a question of chylomicrons? Eye (Lond) 1996;10:603-8. 2. Heyl AG. Intraocular lipemia. Trans Am Ophthalmol Soc 1880;3: 55. 3. The Online Metabolic & Molecular Bases of Inherited Disease, Familial lipoprotein lipase deficiency, Apo C-II deficiency, and hepatic lipase deficiency. 2013. http://www.ommbid.com/OMMBID/a/c.html/ lipids/introduction_structure_metabolism_plasma_lipoproteins. Accessed July 10, 2013. 4. Vinger P, Sachs B. Ocular manifestations of hyperlipoproteinaemia. Am J Ophthalmol 1970;70:563-72. 5. Cypel M, Manzano R, dos Reis FA, Ishida N, Ayhara T. Lipemia retinalis in a 35-day-old infant with hyperlipoproteinemia: case report. Arq Bras Oftamol 2008;71:254-6. 6. Lu C, Chen S, Niu D, et al. Electrophysiological changes in lipaemia retinalis. Am J Ophthalmol 2005;139:1142-5. 7. Rymarz E, Matysik-Wozniak A, Baltaziak L, et al. Lipemia retinalis— an unusual cause of visual acuity deterioration. Med Sci Monit 2012;18: CS72-5. 8. Zahavi A, Snir M, Kella YR. Lipemia retinalis: case report and review of the literature. J AAPOS 2013;17:110-11.

Volume 18 Number 5 / October 2014 9. Trivino A, Ramirez A, Salazar J, et al. A cholesterol-enriched diet induces ultrastructural changes in retinal and macroglial rabbit cells. Exp Eye Res 2006;83:357-66.

Eight-and-a-half syndrome as presenting sign of childhood multiple sclerosis Panteleimon Mortzos, MD, FEBO,a Mette Maria Nordling, MD,b and Torben Lykke Sørensen, MD, DMSca,c We present a case of a 12-year-old boy with eight-and-a-half syndrome that consequently proved to be a sign of childhood multiple sclerosis.

Case Report

A

12-year-old boy was referred to the Ophthalmology Department after being admitted to the Pediatric Department in Copenhagen University Hospital, Roskilde, with subacute onset of diplopia and right facial palsy. The patient reported dizziness, nausea, and headache of 10 days’ duration. No recent history of illness or vaccination was reported. On examination, visual acuity was 6/6 in both eyes. There was slight exophoria at distance in primary position, increasing in left gaze, with bilateral limited movement into right gaze; in left gaze there was an adduction deficit in the right eye and abducting nystagmus in the left eye. There was mild upbeating nystagmus on upgaze. These findings were consistent with right conjugate gaze palsy with a right internuclear ophthalmoplegia. The patient had a right facial paresis (Figure 1 and Video 1 [available at jaapos. org]). The combination of these symptoms is referred to as eight-and-a-half syndrome, that is, one-and-a-half syndrome with seventh (facial) cranial nerve palsy.1 The patient was afebrile. There were no other ophthalmic or neurological findings on clinical examination.

Author affiliations: Departments of aOphthalmology and bRadiology, Copenhagen University Hospital, Roskilde; cFaculty of Health Sciences, University of Copenhagen, Copenhagen Submitted February 10, 2014. Revision accepted May 16, 2014. Published online September 27, 2014. Correspondence: Panteleimon Mortzos, MD, FEBO, Department of Ophthalmology, Copenhagen University Hospital, Roskilde, Køgevej 7-13, DK-4000 Roskilde, Denmark (email: [email protected]). J AAPOS 2014;18:490-492. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2014.05.007

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FIG 3. A, Axial T2-weighted MRI at 12 weeks after onset showing a new supratentorial, periventicular lesion (white arrow). B, Sagittal T2 fluid-attenuated inversion recovery image, 3.5 years after onset: the new lesion is located close to the pontomedullary junction, more inferiorly than the initial lesion. FIG 1. External photographs from Video 1.

The patient was asymptomatic for 3.5 years after experiencing initial symptoms. He then presented, at age 15.5 years, with sudden onset of mild left hemiparesis and diplopia in the absence of fever or infection. MR imaging showed a new brainstem lesion, hyperintense on T2-weighted imaging, at the level of the pontomedullary junction (Figure 3B). The diplopia was attributed to an abducens nerve palsy. The patient responded well to intravenous corticosteroids. The diagnosis of multiple sclerosis (MS) was made based on the revised McDonald criteria2 and disease-modifying therapy (DMT) was offered. No further relapses have been observed.

Discussion

FIG 2. A, Axial T2-weighted magnetic resonance image (MRI) showing a small focus of mild hyperintensity in the right paramedian pontine tegmentum (white arrow). B, Sagittal T2-weighted image localizing the lesion in the caudal pons, close to the fourth venticle (white arrow).

Thin slice (3 mm) magnetic resonance imaging (MRI) of the cranium, with focus on the dorsal part of the caudal pons (tegmentum) and along the medial longitudinal fasciculus (MLF), revealed a single right paramedian tegmental pontine lesion, hyperintense on the T2-weighted images (Figure 2). Cerebrospinal fluid analysis revealed oligoclonal bands and an elevated IgG index. Cytology was normal. There was complete remission of symptoms within 2 weeks after admission, and the patient was discharged with a diagnosis of clinically isolated syndrome (CIS). Three months later, a follow-up MRI showed the initial, now regressed, pontine lesion and the occurrence of a new, clinically silent, periventricular lesion, hyperintense on T2-weighted imaging (Figure 3A).Visual evoked potentials (VEP) were normal. A third MRI, 6 months after onset of symptoms, showed almost complete regression of both lesions and no new lesions.

Journal of AAPOS

Horizontal eye movements are regulated in the pons by the abducens nucleus, the paramedian pontine reticular formation (PPRF), and the MLF. Horizontal gaze disorders are typically due to lesions in the pontine tegmentum. Internuclear ophthalmoplegia (INO) is caused by a lesion in the MLF. It manifests with adduction deficit of the eye on the side of the lesion and abducting nystagmus of the contralateral eye. A lesion affecting the abducens nucleus or PPRF and the adjacent MLF with an ipsilateral horizontal gaze palsy and INO is known as one-and-a-half syndrome. Eggenberger1 described 3 patients with oneand-a-half syndrome and ipsilateral seventh (facial) nerve palsy as an “eight-and-a half syndrome” (7 1 1½ 5 8½). The combination of clinical findings is due to a lesion in the tegmentum of the caudal pons, which may be subtle and require high-resolution MR imaging for identification. The few reported cases of eight-and-a-half syndrome are mostly due to ischemic cerebrovascular disease.1,3 Two cases due to adult MS have been reported.4,5 Van Toorn and colleagues,6 described a child with brainstem tuberculoma presenting with eight-and-a-half syndrome. Most frequent causes of INO and related disorders in the adults are brainstem ischemia and MS. On the contrary, a recent review of pediatric INO did not identify demyelination as a causative factor.7

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Childhood MS is defined as onset before the age of 16 years, and it is suggested that puberty may be a pivotal age for susceptibility to MS.8 Brainstem lesions, in particular intrapontine lesions, occur in significant frequency in children with acute demyelination and are particularly prominent in boys.9,10 Surprisingly, lesions in the pontine tegmentum, leading to horizontal gaze disorders have not, to our knowledge, previously been reported in conjunction with pediatric MS. Initially, our patient presented with a monofocal clinically isolated syndrome, 3 years before the publication of the revised McDonald criteria.2 Pediatric MS was confirmed with a second onset of symptoms after a relapse-free period of 3.5 years. On retrospect, following the second-control MRI, our patient did meet the updated criteria for dissemination in time (new lesion on T2-weighted MRI) and dissemination in space, having two lesions (the initial pontine and the new periventricular) and abnormal CSF.2,8 The quick recovery from early episodes, the marked lesion resolution after the initial attack, as well as the large interval between first and second relapse (relapsingremitting course) is characteristic for pediatric MS.2 Onset of demyelinating disease should be considered when encountering this syndrome in children.

Literature Search PubMed was searched without date restriction for results in English using the following terms: internuclear ophthalmoplegia, one-and-a-half syndrome, and eight-and-a-half syndrome.

Acknowledgments The authors thank Yousif Subhi for editing the video. References 1. Eggenberger EJ. Eight-and-a-half syndrome: one-and-a-half syndrome plus cranial nerve VII palsy. J Neuroopthalmol 1998;18: 114-16. 2. Polman CH, Reingold SC, Banwell B, et al. Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria. Ann Neurol 2011;69:292-302. 3. Sarwal A, Garewal M, Sahota S, Sivaraman M. Eight-and-a-halfsyndrome. J Neuroimaging 2009;19:288-90. 4. Raina R, Kaushik M, Mahajan SK, Raghav S, Sharathbabu NM. A case of multiple sclerosis presenting as eight and a half syndrome. Online J Health Allied Scs 2012;11:15. 5. Skaat A, Huna-Baron R. Eight and a half syndrome: a rare pontine neuro-ophthalmologic syndrome. Arch Neurol 2012;69:934-5. 6. Van Toorn R, Schoeman JF, Donald PR. Brainstem tuberculoma presenting as eight-and-a-half-syndrome. Eur J Pediatric Neurology 2006;10:41-4. 7. Rizzo J, Lloyd M, O’Hara MA. Pediatric internuclear ophthalmoplegia. J Neuroophthalmol 2013;33:134-6. 8. Krupp L, Banwell B, Tenembaum S. International Pediatric MS Study Group. Consensus definitions proposed for pediatric multiple sclerosis. Neurology 2007;68:S7-12. 9. Ghassemi R, Antel SB, Narayanan S, et al. Lesion distribution in children with clinically isolated syndromes. Ann Neurol 2008;63: 401-5. 10. Callen DJA, Shroff MM, Branson HM, et al. MRI in the diagnosis of pediatric multiple sclerosis. Neurology 2009;72:961-7.

Volume 18 Number 5 / October 2014

Bilateral congenital cataract with suspected lens-induced granulomatous uveitis St ephanie Vandenbroucke, MD,a Beatrijs Foets, MD, PhD,a Carine Wouters, MD, PhD,b and Ingele Casteels, MD, PhDa A healthy newborn baby girl presented with congenital bilateral cataract. Within a few days of presenting she also developed bilateral granulomatous uveitis, a condition generally linked in newborns to congenital infections, most frequently TORCHES syndrome (toxoplasmosis, rubella, cytomegalic inclusion disease, herpesvirus, including Epstein-Barr, syphilis). Extensive investigation did not reveal any underlying etiologic mechanism. Treatment with topical and systemic steroids did not improve the uveitis. However, bilateral lens extraction resulted in a quick resolution of the uveitis.

Case Report

A

9-day-old white girl was referred to the Department of Ophthalmology, University Hospitals Leuven, with bilateral congenital cataract. A prenatal diagnosis of bilateral cataract was suspected at 29 weeks’ postmenstrual age based on routine ultrasonography. Further investigation was warranted to exclude other malformations. Magnetic resonance imaging (MRI) showed bilateral congenital cataract, a borderline unilateral ventriculomegalia, and a discrete thin cortex occipital. A test of the amniotic fluid test excluded chromosome 21,13, and 18 abnormalities and serologic tests in the mother were negative for active infectious disease. The mother’s rubella status was found to be negative when she was planning to become pregnant, and a rubella vaccination was administered 8 weeks before the pregnancy, explaining the positive result for rubella IgM on a first serologic testing during pregnancy. A control serology was negative for infectious causes, including rubella IgM. Rubella IgG was positive following the vaccination. The mother had no known history of systemic or autoimmune diseases. The pregnancy was otherwise unremarkable.

Author affiliations: aDepartments of Ophthalmology,b Pediatrics, University Hospitals Leuven, Belgium Submitted September 30, 2013. Revision accepted May 19, 2014. Published online September 26, 2014. Correspondence: Stephanie Vandenbroucke, MD, UZ Leuven, Dienst oogziekten, Kapucijnenvoer 33, 3000 Leuven, Belgium (email: [email protected]). J AAPOS 2014;18:492-494. Copyright Ó 2014 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2014.05.010

Journal of AAPOS

Eight-and-a-half syndrome as presenting sign of childhood multiple sclerosis.

We present a case of a 12-year-old boy with eight-and-a-half syndrome that consequently proved to be a sign of childhood multiple sclerosis...
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