- Email: [email protected]
Outcome of pediatric patients referred for papilledema
Outcome of pediatric patients referred for papilledema Jessica J. Kovarik, MD,a Poonam N. Doshi, MD,b Janine E. Collinge, MD,c and David A. Plager, MDd PURPOSE
METHODS
RESULTS
CONCLUSIONS
To determine the prevalence of papilledema versus pseudopapilledema among children referred for suspected papilledema and to identify clinical factors differentiating the two diagnoses. This is a prospective, cross-sectional analysis of patients \18 years old referred to a pediatric ophthalmology clinic for suspected papilledema by ophthalmoscopic examination between April 2012 and February 2014. Patients underwent detailed ophthalmologic and, when indicated, neurologic evaluation to determine the presence or absence of papilledema. A total of 34 patients were identified. Of these, 26 patients were diagnosed with pseudopapilledema or a normal variant; 2, with papilledema; and 6, with unrelated or indeterminate etiology. Headache was a presenting symptom in 25 patients. Five patients complained of additional symptoms suggestive of increased intracranial pressure, of whom 2 were patients diagnosed with papilledema. The incidence of true papilledema among children referred for suspected papilledema based on fundus examination is very low. Headache is a common nonspecific symptom in most patients, whether or not they have papilledema. If children have no additional signs and/or symptoms suggestive of elevated ICP or vision loss, the need for evaluation of such children is not urgent. A detailed history and examination coupled with noninvasive testing, such as ultrasonography, will generally distinguish pseudopapilledema from other abnormal-appearing optic nerves. ( J AAPOS 2015;19:344-348)
C
hildren are often referred to an ophthalmologist by optometrists or nonophthalmologist physicians to evaluate suspected papilledema. These referrals are labeled “urgent,” creating anxiety for the patients and parents involved as well as for the office accommodating the emergent referral. Anomalous optic disk elevation, or “pseudopapilledema,” is a leading diagnostic consideration.1 Buried disk drusen is the most common etiology of pseudopapilledema and can be identified on clinical examination or by other modalities, including fundus autofluorescence, optical coherence tomography, fluorescein angiography, and B-scan ultrasonography.2-6 Buried disk drusen are also frequently misdiagnosed as papilledema. The
purpose of this study was to determine the prevalence of true papilledema versus pseudopapilledema among patients referred by other medical or allied health practitioners because of concern for papilledema on ophthalmoscopic examination and to identify any history or other factors that might help the referring practitioner distinguish the two. These factors include headache features suggestive of increased intracranial pressure (ICP) such as occurrence on awakening, postural changes or associated diplopia, transient visual obscurations, pulsatile tinnitus, and nausea, and vomiting.
Subjects and Methods Author affiliations: aNicklaus Children’s Hospital, Miami Children’s Health System, Miami, Florida; bScott and White Healthcare, Temple, Texas; cDean McGee Eye Institute, University of Oklahoma School of Medicine, Oklahoma City, Oklahoma; dEugene and Marilyn Glick Eye Institute, Indiana University Medical Center, Indianapolis, Indiana Presented as an e-poster at the 41st Annual Meeting of the American Association for Pediatric Ophthalmology and Strabismus, New Orleans, Louisiana, March 25-29, 2015. Submitted January 26, 2015, and in revised form March 21, 2015. Revision accepted May 5, 2015. Published online July 30, 2015. Correspondence: David A. Plager, MD, Eugene and Marilyn Glick Eye Institute, Indiana University Medical Center, 1160 W. Michigan St., Ste. 222 Indianapolis, IN 46202 (email: [email protected]). Copyright Ó 2015 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2015.05.007
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This study was approved by the Indiana University Institutional Review Board and conformed to all requirements of the US Health Insurance Portability and Accountability Act of 1996. This prospective, cross-sectional, descriptive analysis included all consecutive patients \18 years of age referred to the Riley Hospital for Children ophthalmology clinic because of concern for papilledema on ophthalmoscopic examination from April 2012 through February 2014. Patients already diagnosed with and/or undergoing treatment for idiopathic intracranial hypertension (IIH), patients with other suspected etiology of increased intracranial pressure (ICP) or other known central nervous system pathology, and patients with a known diagnosis of optic nerve head drusen were excluded.
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Patients underwent detailed ophthalmologic examination and, when indicated, further evaluation, including magnetic resonance imaging (MRI), magnetic resonance venogram (MRV), and lumbar puncture with opening pressure to determine the presence or absence of true papilledema. In cases suspected of pseudopapilledema due to buried optic disk drusen, B-scan ultrasonography and/or fundus autofluorescence was performed to aide in the diagnosis. Ophthalmologic examination included assessment of visual acuity, color vision, pupils, motility, visual fields, anterior segment, fundus and fundus photos when possible. Additional information recorded included basic demographic information, past medical history, medications, presenting symptoms (if any), type of referring provider, and pre and post-referral work-up.
Results A total of 34 patients (12 males) were included (see Appendix). The mean patient age was 9.9 years. Most patients were referred by an optometrist (26); others were referred by a neurologist (4) or general ophthalmologist (4). Six patients had normal, healthy-appearing optic nerves. Twenty patients had pseudopapilledema, 19 of which were due to drusen and the remainder due to an anomalous optic disk appearance from full, flat nerves with surrounding scleral crescents bilaterally. The diagnosis of drusen was confirmed by B-scan in 14 patients, by fundus autofluorescence in 1 patient, and by characteristic clinical appearance in 4 patients. Two patients had papilledema with documented elevated ICP, one of which was due to IIH (opening pressure on lumbar puncture, 38 cm H2O initially; 26 cm H2O when repeated at a later date) and the other was due to lyme disease (opening pressure on lumbar puncture, 41 cm H2O). Incidentally, the patient with papilledema secondary to IIH also had copresence of optic disk drusen, confirmed on B-scan ultrasonography (see Figure 1A and 1B). The reference range used for cerebrospinal fluid opening pressure in children was based on the most current available data in the study by Avery and colleagues,7 where the threshold for an abnormally elevated opening pressure was 28 cm H2O, and the threshold for an abnormally low opening pressure was 11.5 cm H2O. Three patients were diagnosed with unrelated conditions: 1 had bilateral optic neuritis (presented with severely decreased vision in both eyes), 1 had a vascular anomaly (presented with headaches), and 1 had a retinal dystrophy (completely asymptomatic; bilateral optic disk edema was noted on routine optometric examination, which was later diagnosed as concurrent bilateral optic disk drusen). In 3 patients, the diagnosis of papilledema versus pseudopapilledema was never completely resolved. One presented with headaches, was diagnosed with Chiari I malformation and underwent decompression surgery with perioperative cerebrospinal fluid monitoring that suggested no increased intracranial pressure. He continued to have bilateral disk edema after surgery but was otherwise asymptomatic, with B-scan indeterminate for drusen (see
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FIG 1. A, Fundus photograph of a 12-year-old girl presenting with headaches, pulsatile tinnitus, and a recent 10-pound weight gain with co-occurrence of papilledema and optic nerve head drusen. She had a normal MRI and MRV but an opening pressure of 38 cm H2O on lumbar puncture. She was diagnosed with IIH. Features of both papilledema (blunted circumpapillary light reflex, venous congestion) and optic nerve head drusen (increased major retinal vessels with early branching) are seen. B, B-scan ultrasonagraphy image demonstrating increased echogenicity of the optic nerve head consistent with drusen.
patient 2 in Appendix and Figure 2A). Another patient presented with headaches, and was diagnosed with IIH (opening pressure on lumbar puncture performed in lateral recumbent position was 28 cm H2O.) She was treated with acetazolamide and furosemide, without change in optic nerve appearance on serial examinations over a period of at least 8 months, but had some improvement in headaches; again, B-scan was indeterminate for drusen (see patient 11 in Appendix and Figure 2B). The third patient presented with intermittent headaches but no other signs or symptoms suggestive of elevated ICP. He was found to have anomalous optic nerves (see patient 7 in Appendix and
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Volume 19 Number 4 / August 2015 Figure 2C) but an otherwise normal ophthalmologic examination. Again B-scan was indeterminate for drusen. He was diagnosed with Chiari I malformation and underwent decompression surgery with possibly some improvement in headaches. Unfortunately, he did not return for follow-up; therefore, a postoperative evaluation of his optic nerves was not possible, and it was never certain that he actually had papilledema. Overall, 26 patients (76%) referred due to concern for papilledema found on fundus examination were diagnosed with either pseudopapilledema or normal optic nerves. Of these, 17 complained of headache on initial presentation; only 2 answered yes to certain symptoms that may be suggestive of increased ICP (headache with postural changes in one patient and nausea/vomiting in another). Of the remaining 8 patients (2 of whom were diagnosed with papilledema, 3 of whom had indeterminate diagnoses, and 3 of whom were diagnosed with another condition altogether) all 8 complained of headache on presentation, although only 3 complained of symptoms suggestive of increased ICP: pulsatile tinnitus and diplopia in one patient, pulsatile tinnitus in another, and occasional nausea and vomiting in the third. The 2 with pulsatile tinnitus were diagnosed with papilledema. Of the 10 patients that were completely asymptomatic, 9 were diagnosed with pseudopapilledema or normal optic nerves; 1 had bilateral optic nerve head drusen associated with obvious macular changes and was diagnosed with autosomal recessive bestrophinopathy. Fifteen patients underwent prereferral neuroimaging, either MRI or computed tomography (CT). Of these, 12 patients were ultimately diagnosed with pseudopapilledema or normal optic nerves. Of the other 3 patients, 1 was diagnosed with papilledema. This patient presented with headaches and double vision associated with pulsatile tinnitus after a recent camping trip to the northeastern United States. He was found to have bilateral disk edema with associated flame hemorrhages and was diagnosed
FIG 2. A, Fundus photograph of a 4-year-old boy presenting with headaches and found to have a Chiari malformation for which he underwent decompression surgery with perioperative cerebrospinal fluid monitoring that suggested no increased intracranial pressure. His headaches resolved postoperatively; however, he continued to have bilateral disk edema. B-scan was indeterminate for drusen. B, Fundus photograph of an 8-year-old girl presenting with occasional headaches. She had a normal MRI and opening pressure of 28 cm H2O and was diagnosed with IIH. She was treated with acetazolamide and later furosemide without any change in optic nerve appearance over a period of at least 8 months but did have some improvement in headaches. B-scan was indeterminate for drusen. C, Fundus photograph of a 6-year-old boy presenting with intermittent headaches, anomalous optic nerves, and an otherwise normal ophthalmologic examination. MRI showed a Chiari malformation for which he underwent decompression surgery. He was lost to follow-up. B-scan was indeterminate for drusen.
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disk edema and early pallor and was diagnosed with optic neuritis. This was supported by neuroimaging, which showed enhancement of both optic nerves on fatsuppressed, postgadolinium, T1-weighted MRI. The last patient was lost to follow-up and the diagnosis was indeterminate (described previously, see Figure 2C). Four of 34 underwent prereferral lumbar puncture; all 4 were found to have pseudopapilledema or normal optic nerves. Of note, no patient was found to have a relative afferent pupillary defect on examination. All patients had full motility and were orthotropic on examination. Formal visual fields were performed when possible; however, given that our pediatric patient population is frequently unable to perform this testing and the visual fields are often poorly reliable and difficult to interpret, we have omitted this part of the examination from our analysis.
Discussion
FIG 3. A, Fundus photograph of a 12-year-old asymptomatic boy found to have anomalous optic nerves on a routine optometric examination and referred to the emergency room for urgent MRI. He was later diagnosed with pseudopapilledema due to optic nerve head drusen characterized by an elevated optic disk with blurred margins, visible vasculature at the disk margins, increased major retinal vessels with early branching and an intact circumpapillary light reflex. B, Fundus photograph of a 10-year-old boy presenting with headaches, diplopia, and pulsatile tinnitus who was found to have Lyme disease. His opening pressure was 41 cm H2O. In this case of true papilledema the disk elevation extends into the peripapillary retina, the circumpapillary light reflex is slightly blunted and a small flame hemorrhage is visible, indicated by the arrow.
with Lyme disease (positive serum lyme IgM and IgG). Of the remaining 2 patients, one presented with severely decreased vision in both eyes was found to have optic
Journal of AAPOS
Only 6% of patients referred because of suspicion for papilledema on fundus examination were diagnosed with papilledema. The majority of patients (76%) referred for suspected papilledema had pseudopapilledema or a normal variant. Many of these patients underwent unnecessary neuroradiological imaging, and several underwent lumbar puncture. Among our clinic population, headache appears to be a common, nonspecific symptom in most patients, whether or not they had papilledema. However, headache features concerning for increased ICP were rarely seen in patients without papilledema. Conversely, they were seen in both patients diagnosed with papilledema. Although it is difficult to come to any definitive conclusions based on only 2 patients, these findings suggest that, in the absence of other signs or symptoms of elevated intracranial pressure, “suspicious appearing” optic nerves found on routine fundus examination is unlikely to represent true papilledema and is probably not an ophthalmic emergency. A detailed history and focused examination coupled with cost-efficient, noninvasive testing, such as fundus photography, disk autofluorescence and B-scan ultrasonography, may be sufficient to diagnose optic disk drusen or pseudopapilledema in such cases. Many urgent MRIs and even lumbar punctures can likely be avoided, as was found to be the case in a recent study by Liu and colleagues.8 Examining young children often allows for only quick glimpses of the optic nerves, making fundus photography, when possible, a valuable tool in distinguishing true optic disk edema from anomalous optic disk elevation. Even very subtle differentiating characteristics can be gleaned in these sometimes challenging cases. Figure 3A shows a case of pseudopapilledema secondary to buried disk drusen and Figure 3B shows a case of true papilledema. In Figure 3A, the optic disk is elevated, with blurred margins, but the vasculature is clearly visible at the disk margins, there is an increased number of major retinal vessels with early branching, and there is an intact circumpapillary light
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reflex. In Figure 3B, the optic disk is elevated, with blurred margins, but the disk elevation extends into the peripapillary retina, as evidenced by a slightly blunted peripapillary light reflex, and there is a small flame hemorrhage. Identifying these subtle differentiating characteristics is especially important in cases of buried disk drusen, which are commonly seen in young children, and become more obvious later in life as they become exposed on the disk surface over time.9 One must, however, keep in mind that the presence of optic disk drusen does not exclude the coexistence of IIH (see Figure 1A and 1B). The simultaneous occurrence of optic disk drusen and IIH has been reported in at least 4 other pediatric patients.10-13 Finally, on occasion, despite extensive work-up, the diagnosis remains unclear, requiring close continued follow-up. A somewhat unexpected finding was that all of the patients in this study were white. This does not reflect our general clinic population. Several previous studies have suggested racial differences in the prevalence of optic nerve head drusen.14-17 Optic nerve head drusen appear to be rare in African Americans, possibly due to the presence of a larger average cup:disk ratio; drusen are thought to occur more often in small, crowded optic nerve heads.16 The study is limited by the lack of a gold standard to diagnose optic disk drusen and by the lack of a consistent follow-up interval as an inclusion criterion for the study. As a result, we cannot be certain that those patients diagnosed with optic disk drusen or pseudopapilledema did not go on to develop signs/symptoms of true papilledema without having long-term follow-up or performing a lumbar puncture with opening pressure on each patient. Even then, variables such as age, depth of sedation, and obesity can affect the opening pressure.18 The study is also limited by the small number of patients (2) with papilledema. In conclusion, the incidence of true papilledema among children referred for suspected papilledema based on fundus examination is very low. Headache appears to be a common nonspecific symptom in most patients. Without additional signs and/or symptoms suggestive of elevated ICP or vision loss, evaluation of such children is usually not urgent. In asymptomatic cases, a detailed history and examination coupled with cost-efficient and noninvasive testing such as fundus photography, disk autofluorescence and/or B-scan ultrasonography, is usually sufficient to diagnose pseudopapilledema from papilledema.
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Literature Search A PubMed search without date or language restriction was most recently performed in December 2014 using the following terms: papilledema, pseudopapilledema, optic nerve drusen, optic disc drusen, and idiopathic intracranial hypertension. References 1. Hoyt CS, Taylor D. Pediatric Ophthalmology and Strabismus. 4th ed. London, UK: Elsevier; 2013:557-60. 2. Gili P, Flores-Rodreiquez P, Yanguela J, Herreros Fernandez ML. Using autofluorescence to detect optic nerve head drusen in children. J AAPOS 2013;17:568-71. 3. Lee KM, Woo SJ, Hwang JM. Differentiation of optic nerve head drusen and optic disc edema with spectral-domain optical coherence tomography. Ophthalmology 2011;118:971-7. 4. Sarac O, Tasci YY, Gurdal C, Can I. Differentiation of optic disc edema from optic nerve head drusen with spectral-domain optical coherence tomography. J Neuroophthalmol 2012;32:207-11. 5. Pineles SL, Arnold AC. Fluorescein angiographic identification of optic disc drusen with and without optic disc edema. J Neuroophthalmol 2012;32:17-22. 6. Atta HR. Imaging of the optic nerve with standardized echography. Eye 1988;2:358-66. 7. Avery RA, Shah SS, Licht DJ, et al. Reference range for cerebrospinal fluid opening pressure in children. N Engl J Med 2010;363:891-3. 8. Liu B, Murphy RK, Mercer D, Tychsen L, Smyth MD. Pseudopapilledema and association with idiopathic intracranial hypertension. Childs Nerv Syst 2014;30:1197-200. 9. Spencer TS, Katz BJ, Weber SW, Digre KB. Progression from anomalous optic discs to visible optic disc drusen. J Neuro-Ophthalmol 2004;24:297-8. 10. Rossiter JD, Lockwood AJ, Evans AR. Coexistance of optic disc drusen and idiopathic intracranial hypertension in a child. Eye 2005;19: 234-5. 11. Fong CY, Williams C, Pople IK, Jardine PE. Optic disc drusen masquerading as papilloedema. Arch Dis Child 2010;95:629. 12. Komur M, Sari A, Okuyaz C. Simultaneous papilledema and optic disc drusen in a child. Pediatr Neurol 2012;46:187-8. 13. Jacome DE. Headaches, idiopathic intracranial hypertension, and pseudopapilledema. Am J Med Sci 1998;316:408-10. 14. Lorentzen SE. Drusen of the optic disk: a clinical and genetic study. Acta Ophthalmol 1966;90(Suppl):1-80. 15. Rosenberg MA, Savino PJ, Glaser JS. A clinical analysis of pseudopapilledema: I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. Arch Ophthalmol 1979;97:65-70. 16. Mansour AM, Hamed LM. Racial variation of optic nerve diseases. J Neuro-Ophthalmol 1991;11:319-23. 17. Thurtell MJ, Biousse V, Bruce BB, Newman NJ. Optic nerve head drusen in black patients. J Neuro-Ophthalmol 2012;32:13-16. 18. Avery RA. Reference range of cerebrospinal fluid opening pressure in children: historical overview and current data. Neuropediatrics 2014; 45:206-11.
Journal of AAPOS
METHODS
RESULTS
CONCLUSIONS
To determine the prevalence of papilledema versus pseudopapilledema among children referred for suspected papilledema and to identify clinical factors differentiating the two diagnoses. This is a prospective, cross-sectional analysis of patients \18 years old referred to a pediatric ophthalmology clinic for suspected papilledema by ophthalmoscopic examination between April 2012 and February 2014. Patients underwent detailed ophthalmologic and, when indicated, neurologic evaluation to determine the presence or absence of papilledema. A total of 34 patients were identified. Of these, 26 patients were diagnosed with pseudopapilledema or a normal variant; 2, with papilledema; and 6, with unrelated or indeterminate etiology. Headache was a presenting symptom in 25 patients. Five patients complained of additional symptoms suggestive of increased intracranial pressure, of whom 2 were patients diagnosed with papilledema. The incidence of true papilledema among children referred for suspected papilledema based on fundus examination is very low. Headache is a common nonspecific symptom in most patients, whether or not they have papilledema. If children have no additional signs and/or symptoms suggestive of elevated ICP or vision loss, the need for evaluation of such children is not urgent. A detailed history and examination coupled with noninvasive testing, such as ultrasonography, will generally distinguish pseudopapilledema from other abnormal-appearing optic nerves. ( J AAPOS 2015;19:344-348)
C
hildren are often referred to an ophthalmologist by optometrists or nonophthalmologist physicians to evaluate suspected papilledema. These referrals are labeled “urgent,” creating anxiety for the patients and parents involved as well as for the office accommodating the emergent referral. Anomalous optic disk elevation, or “pseudopapilledema,” is a leading diagnostic consideration.1 Buried disk drusen is the most common etiology of pseudopapilledema and can be identified on clinical examination or by other modalities, including fundus autofluorescence, optical coherence tomography, fluorescein angiography, and B-scan ultrasonography.2-6 Buried disk drusen are also frequently misdiagnosed as papilledema. The
purpose of this study was to determine the prevalence of true papilledema versus pseudopapilledema among patients referred by other medical or allied health practitioners because of concern for papilledema on ophthalmoscopic examination and to identify any history or other factors that might help the referring practitioner distinguish the two. These factors include headache features suggestive of increased intracranial pressure (ICP) such as occurrence on awakening, postural changes or associated diplopia, transient visual obscurations, pulsatile tinnitus, and nausea, and vomiting.
Subjects and Methods Author affiliations: aNicklaus Children’s Hospital, Miami Children’s Health System, Miami, Florida; bScott and White Healthcare, Temple, Texas; cDean McGee Eye Institute, University of Oklahoma School of Medicine, Oklahoma City, Oklahoma; dEugene and Marilyn Glick Eye Institute, Indiana University Medical Center, Indianapolis, Indiana Presented as an e-poster at the 41st Annual Meeting of the American Association for Pediatric Ophthalmology and Strabismus, New Orleans, Louisiana, March 25-29, 2015. Submitted January 26, 2015, and in revised form March 21, 2015. Revision accepted May 5, 2015. Published online July 30, 2015. Correspondence: David A. Plager, MD, Eugene and Marilyn Glick Eye Institute, Indiana University Medical Center, 1160 W. Michigan St., Ste. 222 Indianapolis, IN 46202 (email: [email protected]). Copyright Ó 2015 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 http://dx.doi.org/10.1016/j.jaapos.2015.05.007
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This study was approved by the Indiana University Institutional Review Board and conformed to all requirements of the US Health Insurance Portability and Accountability Act of 1996. This prospective, cross-sectional, descriptive analysis included all consecutive patients \18 years of age referred to the Riley Hospital for Children ophthalmology clinic because of concern for papilledema on ophthalmoscopic examination from April 2012 through February 2014. Patients already diagnosed with and/or undergoing treatment for idiopathic intracranial hypertension (IIH), patients with other suspected etiology of increased intracranial pressure (ICP) or other known central nervous system pathology, and patients with a known diagnosis of optic nerve head drusen were excluded.
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Patients underwent detailed ophthalmologic examination and, when indicated, further evaluation, including magnetic resonance imaging (MRI), magnetic resonance venogram (MRV), and lumbar puncture with opening pressure to determine the presence or absence of true papilledema. In cases suspected of pseudopapilledema due to buried optic disk drusen, B-scan ultrasonography and/or fundus autofluorescence was performed to aide in the diagnosis. Ophthalmologic examination included assessment of visual acuity, color vision, pupils, motility, visual fields, anterior segment, fundus and fundus photos when possible. Additional information recorded included basic demographic information, past medical history, medications, presenting symptoms (if any), type of referring provider, and pre and post-referral work-up.
Results A total of 34 patients (12 males) were included (see Appendix). The mean patient age was 9.9 years. Most patients were referred by an optometrist (26); others were referred by a neurologist (4) or general ophthalmologist (4). Six patients had normal, healthy-appearing optic nerves. Twenty patients had pseudopapilledema, 19 of which were due to drusen and the remainder due to an anomalous optic disk appearance from full, flat nerves with surrounding scleral crescents bilaterally. The diagnosis of drusen was confirmed by B-scan in 14 patients, by fundus autofluorescence in 1 patient, and by characteristic clinical appearance in 4 patients. Two patients had papilledema with documented elevated ICP, one of which was due to IIH (opening pressure on lumbar puncture, 38 cm H2O initially; 26 cm H2O when repeated at a later date) and the other was due to lyme disease (opening pressure on lumbar puncture, 41 cm H2O). Incidentally, the patient with papilledema secondary to IIH also had copresence of optic disk drusen, confirmed on B-scan ultrasonography (see Figure 1A and 1B). The reference range used for cerebrospinal fluid opening pressure in children was based on the most current available data in the study by Avery and colleagues,7 where the threshold for an abnormally elevated opening pressure was 28 cm H2O, and the threshold for an abnormally low opening pressure was 11.5 cm H2O. Three patients were diagnosed with unrelated conditions: 1 had bilateral optic neuritis (presented with severely decreased vision in both eyes), 1 had a vascular anomaly (presented with headaches), and 1 had a retinal dystrophy (completely asymptomatic; bilateral optic disk edema was noted on routine optometric examination, which was later diagnosed as concurrent bilateral optic disk drusen). In 3 patients, the diagnosis of papilledema versus pseudopapilledema was never completely resolved. One presented with headaches, was diagnosed with Chiari I malformation and underwent decompression surgery with perioperative cerebrospinal fluid monitoring that suggested no increased intracranial pressure. He continued to have bilateral disk edema after surgery but was otherwise asymptomatic, with B-scan indeterminate for drusen (see
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FIG 1. A, Fundus photograph of a 12-year-old girl presenting with headaches, pulsatile tinnitus, and a recent 10-pound weight gain with co-occurrence of papilledema and optic nerve head drusen. She had a normal MRI and MRV but an opening pressure of 38 cm H2O on lumbar puncture. She was diagnosed with IIH. Features of both papilledema (blunted circumpapillary light reflex, venous congestion) and optic nerve head drusen (increased major retinal vessels with early branching) are seen. B, B-scan ultrasonagraphy image demonstrating increased echogenicity of the optic nerve head consistent with drusen.
patient 2 in Appendix and Figure 2A). Another patient presented with headaches, and was diagnosed with IIH (opening pressure on lumbar puncture performed in lateral recumbent position was 28 cm H2O.) She was treated with acetazolamide and furosemide, without change in optic nerve appearance on serial examinations over a period of at least 8 months, but had some improvement in headaches; again, B-scan was indeterminate for drusen (see patient 11 in Appendix and Figure 2B). The third patient presented with intermittent headaches but no other signs or symptoms suggestive of elevated ICP. He was found to have anomalous optic nerves (see patient 7 in Appendix and
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Volume 19 Number 4 / August 2015 Figure 2C) but an otherwise normal ophthalmologic examination. Again B-scan was indeterminate for drusen. He was diagnosed with Chiari I malformation and underwent decompression surgery with possibly some improvement in headaches. Unfortunately, he did not return for follow-up; therefore, a postoperative evaluation of his optic nerves was not possible, and it was never certain that he actually had papilledema. Overall, 26 patients (76%) referred due to concern for papilledema found on fundus examination were diagnosed with either pseudopapilledema or normal optic nerves. Of these, 17 complained of headache on initial presentation; only 2 answered yes to certain symptoms that may be suggestive of increased ICP (headache with postural changes in one patient and nausea/vomiting in another). Of the remaining 8 patients (2 of whom were diagnosed with papilledema, 3 of whom had indeterminate diagnoses, and 3 of whom were diagnosed with another condition altogether) all 8 complained of headache on presentation, although only 3 complained of symptoms suggestive of increased ICP: pulsatile tinnitus and diplopia in one patient, pulsatile tinnitus in another, and occasional nausea and vomiting in the third. The 2 with pulsatile tinnitus were diagnosed with papilledema. Of the 10 patients that were completely asymptomatic, 9 were diagnosed with pseudopapilledema or normal optic nerves; 1 had bilateral optic nerve head drusen associated with obvious macular changes and was diagnosed with autosomal recessive bestrophinopathy. Fifteen patients underwent prereferral neuroimaging, either MRI or computed tomography (CT). Of these, 12 patients were ultimately diagnosed with pseudopapilledema or normal optic nerves. Of the other 3 patients, 1 was diagnosed with papilledema. This patient presented with headaches and double vision associated with pulsatile tinnitus after a recent camping trip to the northeastern United States. He was found to have bilateral disk edema with associated flame hemorrhages and was diagnosed
FIG 2. A, Fundus photograph of a 4-year-old boy presenting with headaches and found to have a Chiari malformation for which he underwent decompression surgery with perioperative cerebrospinal fluid monitoring that suggested no increased intracranial pressure. His headaches resolved postoperatively; however, he continued to have bilateral disk edema. B-scan was indeterminate for drusen. B, Fundus photograph of an 8-year-old girl presenting with occasional headaches. She had a normal MRI and opening pressure of 28 cm H2O and was diagnosed with IIH. She was treated with acetazolamide and later furosemide without any change in optic nerve appearance over a period of at least 8 months but did have some improvement in headaches. B-scan was indeterminate for drusen. C, Fundus photograph of a 6-year-old boy presenting with intermittent headaches, anomalous optic nerves, and an otherwise normal ophthalmologic examination. MRI showed a Chiari malformation for which he underwent decompression surgery. He was lost to follow-up. B-scan was indeterminate for drusen.
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disk edema and early pallor and was diagnosed with optic neuritis. This was supported by neuroimaging, which showed enhancement of both optic nerves on fatsuppressed, postgadolinium, T1-weighted MRI. The last patient was lost to follow-up and the diagnosis was indeterminate (described previously, see Figure 2C). Four of 34 underwent prereferral lumbar puncture; all 4 were found to have pseudopapilledema or normal optic nerves. Of note, no patient was found to have a relative afferent pupillary defect on examination. All patients had full motility and were orthotropic on examination. Formal visual fields were performed when possible; however, given that our pediatric patient population is frequently unable to perform this testing and the visual fields are often poorly reliable and difficult to interpret, we have omitted this part of the examination from our analysis.
Discussion
FIG 3. A, Fundus photograph of a 12-year-old asymptomatic boy found to have anomalous optic nerves on a routine optometric examination and referred to the emergency room for urgent MRI. He was later diagnosed with pseudopapilledema due to optic nerve head drusen characterized by an elevated optic disk with blurred margins, visible vasculature at the disk margins, increased major retinal vessels with early branching and an intact circumpapillary light reflex. B, Fundus photograph of a 10-year-old boy presenting with headaches, diplopia, and pulsatile tinnitus who was found to have Lyme disease. His opening pressure was 41 cm H2O. In this case of true papilledema the disk elevation extends into the peripapillary retina, the circumpapillary light reflex is slightly blunted and a small flame hemorrhage is visible, indicated by the arrow.
with Lyme disease (positive serum lyme IgM and IgG). Of the remaining 2 patients, one presented with severely decreased vision in both eyes was found to have optic
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Only 6% of patients referred because of suspicion for papilledema on fundus examination were diagnosed with papilledema. The majority of patients (76%) referred for suspected papilledema had pseudopapilledema or a normal variant. Many of these patients underwent unnecessary neuroradiological imaging, and several underwent lumbar puncture. Among our clinic population, headache appears to be a common, nonspecific symptom in most patients, whether or not they had papilledema. However, headache features concerning for increased ICP were rarely seen in patients without papilledema. Conversely, they were seen in both patients diagnosed with papilledema. Although it is difficult to come to any definitive conclusions based on only 2 patients, these findings suggest that, in the absence of other signs or symptoms of elevated intracranial pressure, “suspicious appearing” optic nerves found on routine fundus examination is unlikely to represent true papilledema and is probably not an ophthalmic emergency. A detailed history and focused examination coupled with cost-efficient, noninvasive testing, such as fundus photography, disk autofluorescence and B-scan ultrasonography, may be sufficient to diagnose optic disk drusen or pseudopapilledema in such cases. Many urgent MRIs and even lumbar punctures can likely be avoided, as was found to be the case in a recent study by Liu and colleagues.8 Examining young children often allows for only quick glimpses of the optic nerves, making fundus photography, when possible, a valuable tool in distinguishing true optic disk edema from anomalous optic disk elevation. Even very subtle differentiating characteristics can be gleaned in these sometimes challenging cases. Figure 3A shows a case of pseudopapilledema secondary to buried disk drusen and Figure 3B shows a case of true papilledema. In Figure 3A, the optic disk is elevated, with blurred margins, but the vasculature is clearly visible at the disk margins, there is an increased number of major retinal vessels with early branching, and there is an intact circumpapillary light
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reflex. In Figure 3B, the optic disk is elevated, with blurred margins, but the disk elevation extends into the peripapillary retina, as evidenced by a slightly blunted peripapillary light reflex, and there is a small flame hemorrhage. Identifying these subtle differentiating characteristics is especially important in cases of buried disk drusen, which are commonly seen in young children, and become more obvious later in life as they become exposed on the disk surface over time.9 One must, however, keep in mind that the presence of optic disk drusen does not exclude the coexistence of IIH (see Figure 1A and 1B). The simultaneous occurrence of optic disk drusen and IIH has been reported in at least 4 other pediatric patients.10-13 Finally, on occasion, despite extensive work-up, the diagnosis remains unclear, requiring close continued follow-up. A somewhat unexpected finding was that all of the patients in this study were white. This does not reflect our general clinic population. Several previous studies have suggested racial differences in the prevalence of optic nerve head drusen.14-17 Optic nerve head drusen appear to be rare in African Americans, possibly due to the presence of a larger average cup:disk ratio; drusen are thought to occur more often in small, crowded optic nerve heads.16 The study is limited by the lack of a gold standard to diagnose optic disk drusen and by the lack of a consistent follow-up interval as an inclusion criterion for the study. As a result, we cannot be certain that those patients diagnosed with optic disk drusen or pseudopapilledema did not go on to develop signs/symptoms of true papilledema without having long-term follow-up or performing a lumbar puncture with opening pressure on each patient. Even then, variables such as age, depth of sedation, and obesity can affect the opening pressure.18 The study is also limited by the small number of patients (2) with papilledema. In conclusion, the incidence of true papilledema among children referred for suspected papilledema based on fundus examination is very low. Headache appears to be a common nonspecific symptom in most patients. Without additional signs and/or symptoms suggestive of elevated ICP or vision loss, evaluation of such children is usually not urgent. In asymptomatic cases, a detailed history and examination coupled with cost-efficient and noninvasive testing such as fundus photography, disk autofluorescence and/or B-scan ultrasonography, is usually sufficient to diagnose pseudopapilledema from papilledema.
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Literature Search A PubMed search without date or language restriction was most recently performed in December 2014 using the following terms: papilledema, pseudopapilledema, optic nerve drusen, optic disc drusen, and idiopathic intracranial hypertension. References 1. Hoyt CS, Taylor D. Pediatric Ophthalmology and Strabismus. 4th ed. London, UK: Elsevier; 2013:557-60. 2. Gili P, Flores-Rodreiquez P, Yanguela J, Herreros Fernandez ML. Using autofluorescence to detect optic nerve head drusen in children. J AAPOS 2013;17:568-71. 3. Lee KM, Woo SJ, Hwang JM. Differentiation of optic nerve head drusen and optic disc edema with spectral-domain optical coherence tomography. Ophthalmology 2011;118:971-7. 4. Sarac O, Tasci YY, Gurdal C, Can I. Differentiation of optic disc edema from optic nerve head drusen with spectral-domain optical coherence tomography. J Neuroophthalmol 2012;32:207-11. 5. Pineles SL, Arnold AC. Fluorescein angiographic identification of optic disc drusen with and without optic disc edema. J Neuroophthalmol 2012;32:17-22. 6. Atta HR. Imaging of the optic nerve with standardized echography. Eye 1988;2:358-66. 7. Avery RA, Shah SS, Licht DJ, et al. Reference range for cerebrospinal fluid opening pressure in children. N Engl J Med 2010;363:891-3. 8. Liu B, Murphy RK, Mercer D, Tychsen L, Smyth MD. Pseudopapilledema and association with idiopathic intracranial hypertension. Childs Nerv Syst 2014;30:1197-200. 9. Spencer TS, Katz BJ, Weber SW, Digre KB. Progression from anomalous optic discs to visible optic disc drusen. J Neuro-Ophthalmol 2004;24:297-8. 10. Rossiter JD, Lockwood AJ, Evans AR. Coexistance of optic disc drusen and idiopathic intracranial hypertension in a child. Eye 2005;19: 234-5. 11. Fong CY, Williams C, Pople IK, Jardine PE. Optic disc drusen masquerading as papilloedema. Arch Dis Child 2010;95:629. 12. Komur M, Sari A, Okuyaz C. Simultaneous papilledema and optic disc drusen in a child. Pediatr Neurol 2012;46:187-8. 13. Jacome DE. Headaches, idiopathic intracranial hypertension, and pseudopapilledema. Am J Med Sci 1998;316:408-10. 14. Lorentzen SE. Drusen of the optic disk: a clinical and genetic study. Acta Ophthalmol 1966;90(Suppl):1-80. 15. Rosenberg MA, Savino PJ, Glaser JS. A clinical analysis of pseudopapilledema: I. Population, laterality, acuity, refractive error, ophthalmoscopic characteristics, and coincident disease. Arch Ophthalmol 1979;97:65-70. 16. Mansour AM, Hamed LM. Racial variation of optic nerve diseases. J Neuro-Ophthalmol 1991;11:319-23. 17. Thurtell MJ, Biousse V, Bruce BB, Newman NJ. Optic nerve head drusen in black patients. J Neuro-Ophthalmol 2012;32:13-16. 18. Avery RA. Reference range of cerebrospinal fluid opening pressure in children: historical overview and current data. Neuropediatrics 2014; 45:206-11.
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