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| CLINICAL IMAGE |
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| Year : 2018 | Volume
: 11
| Issue : 2 | Page : 166-168 |
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Von Hipple–Lindau: Unusual case presentation with peripheral and juxtapapillary retinal hemangioma
Kanika Jain, Manav Deep Singh
Department of Ophthalmology, Dr. RML Hospital, New Delhi, India
| Date of Web Publication | 28-May-2018 |
Correspondence Address:
Kanika Jain
S-293, Ground Floor, Greater Gailash 1, New Delhi - 110 048
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ojo.OJO_30_2017
 Abstract | | |
Von Hipple-Lindua (VHL) syndrome is an autosomal dominant neoplastic disorder in which multiple benign or malignant tumours and cysts develop in central nervous system and visceral organs. Retinal capillary hemangioma is the most frequent and often the earliest manifestation of VHL syndrome. We report a case with multisystemic involvement diagnosed as a case of multiple endocrine neoplasia (MEN) syndrome but the presence of multiple, unilateral peripheral and juxtapapillary retinal capillary hemangioma was able to clinche the definative diagnosis of VHL and thus helped in appropriate management of the patient.
Keywords: Pheochromocytoma, retinal capillary hemangioma, spinal conus medullaris hemangioblastoma, Von Hipple–Lindau syndrome
How to cite this article:
Jain K, Singh MD. Von Hipple–Lindau: Unusual case presentation with peripheral and juxtapapillary retinal hemangioma. Oman J Ophthalmol 2018;11:166-8 |
How to cite this URL:
Jain K, Singh MD. Von Hipple–Lindau: Unusual case presentation with peripheral and juxtapapillary retinal hemangioma. Oman J Ophthalmol [serial online] 2018 [cited 2021 May 16];11:166-8. Available from: https://www.ojoonline.org/text.asp?2018/11/2/166/233316 |
A 34-year-old male patient with operated spinal conus medullaris hemangioblastoma 3 years ago reported with recurrent 4.8 mm × 1.6 mm well-defined intramedullary lesion involving conus and filum from D12 to L1 up to mid-L2 vertebral body with intralesional hemorrhage and hemosiderin deposition [Figure 1]. Since the patient was found to have high blood pressure, contrast-enhanced computed tomography abdomen was performed which detected a 66 mm × 55 mm nodular lesion along segment VI of liver, a 33 mm × 27 mm right adrenal mass, a 43 mm × 26 mm left adrenal mass and a 28 mm × 24 mm right simple renal cortical cyst [Figure 2]. He was managed as a case of multiple endocrine neoplasia (MEN) syndrome and was referred to ophthalmology department in view of painless, progressive dimuinition of vision right eye for the past 3 years. On ophthalmic evaluation, best-corrected visual acuity was finger counting at 1 m in the right eye and 6/6 in the left eye. The anterior segment including pupillary reflexes in both eyes was normal. Fundus evaluation of the right eye showed blurred disc margins with surrounding flame shaped hemorrhages and hard exudates (appearing as papilledema) with macular internal limiting membrane folds [Figure 3] with vitreoretinal fibrotic bands present 1–2 disc diameter (DD) nasally to disc [Figure 4] and 3–4 polypoidal, orange–red retinal capillary hemangioma, varying in size from 1 to 4 DD, present 3–4 DD nasally to disc with corresponding dilated and tortuous feeder vessels [Figure 5]. Urinary vanillylmandelic acid, epinephrine (36.01 μg/g of creatinine), and norepinephrine (450.95 μg/g of creatinine) were found to be elevated. Meta-iodobenzylguanidine scan (MIBG) showed bilateral malignant pheochromocytoma with a nodular, metastatic lesion to the liver (segment VI). A diagnosis of Von Hipple–Lindau (VHL) syndrome was made in view of retinal capillary hemangioma-peripheral and juxta-papillary, central nervous system hemangioblastoma, pheochromocytoma, and renal cyst as per the diagnostic criteria for VHL.[1],[2] The patient underwent thoracolaprotomy with excision of bilateral adrenal pheochromocytoma and liver metastatic lesion followed by chemotherapy and neurosurgery with excision of spinal hemangioblastoma. He was advised to undergo retinal cryotherapy which the patient declined. He was also advised regular screening for recurrent visceral tumours with 6 monthly magnetic resonance imaging brain-spinal cord and yearly ultrasound abdomen along with annual fundus evaluation to detect any new retinal capillary hemangioma in either of the eye. All the family members were screened, and genetic counseling of the patient was done. This is an unusual case of VHL with unilateral multiple peripheral and juxtapapillary retinal capillary hemangioma and on the basis of this finding, a definitive diagnosis of VHL was clinched. This case also highlights the need of ophthalmic evaluation in patients with multiple visceral benign/malignant lesions and the importance of an ophthalmologist in the diagnosis and proper management of these cases.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. | Figure 1: Contrast-enhanced magnetic resonance imaging brain and spinal cord showing 4.8 mm × 1.6 mm well-defined intramedullary lesion involving conus and filum from D12 to L1 up to mid L2 vertebral body with intralesional hemorrhage with hemosiderin deposition suggestive of spinal conus medullaris hemangioblastoma
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 | Figure 2: Contrast-enhanced computed tomography abdomen showing right adrenal mass (33 mm × 27 mm), left adrenal mass (43 mm × 26 mm) (shown with red arrows) with right simple renal cortical cyst (28 mm × 24 mm) (shown with green arrow)
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 | Figure 3: Color fundus photo of right eye showing macular internal limiting membrane folds (orange arrow) with peripapillary blurred margins (green arrow) with cuff of hard exudation (red arrow) - pseudopapilledema suggestive of juxta-papillary retinal capillary hemangioma
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 | Figure 4: Color fundus photo of right eye showing vitreoretinal fibrotic bands (red arrow) present 1–2 disc diameter nasally to disc
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 | Figure 5: Color fundus photo of right eye with 3–4 polypoidal, orange–red retinal capillary hemangioma (green arrows) varying in size from 1 to 4 disc diameter, present nasally to disc with corresponding dilated tortuous feeder vessels (blue arrows)
Click here to view |
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | |  |
| 1. | Melmon KL, Rosen SW. Lindau's disease. Review of the literature and study of a large kindred. Am J Med 1964;36:595-617.  [ PUBMED] |
| 2. | Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, et al. Von Hippel-Lindau disease. Lancet 2003;361:2059-67. [ PUBMED] |
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
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