Abstract
Purpose
To report a case of vitreous hemorrhage as the presenting sign of retinal cavernous hemangioma (RCH) in a newborn.
Observations
A five-week-old full-term male with a history of seizures and birth trauma underwent ophthalmology screening. Initial eye examination revealed vitreous hemorrhage. Subsequent examination under anesthesia with multi-modal imaging revealed vitreous hemorrhage and an intra-retinal mass with numerous sac-like aneurysmal dilatations, consistent with RCH.
Conclusions and importance
Vitreous hemorrhage in a neonate is an atypical presentation of RCH. Clinicians should be aware that birth trauma may lead to vitreous hemorrhage from RCH. This is the first description of RCH, a rare retinal vascular tumor, in a newborn.
1
Introduction
Retinal cavernous hemangioma (RCH) is a rare, benign vascular tumor with distinctive grape-like clusters of thin-walled intraretinal angiomatous lesions. Patients are almost always asymptomatic; RCH is typically diagnosed as an incidental finding in children or young adults and has only been described twice in infants, age 6 months and age 10 months. Vitreous hemorrhage is an uncommon initial presentation of RCH and is not typically trauma-related. , Here, we report the serendipitous finding of vitreous hemorrhage from RCH caused by birth trauma in a 5-week-old male. Multi-modal imaging, including intra-operative optical coherence tomography and fluorescein angiography, confirmed the diagnosis of RCH.
1.1
Case report
A newborn male (full-term, 40 weeks gestation) presented to Jackson Memorial Hospital for management of acute hypoxic respiratory failure following delivery at an outside hospital in the Cayman Islands. The delivery was vaginal, prolonged, and complicated by a 20 minute shoulder dystocia. The patient was delivered pulseless and cyanotic without respiratory effort, and consequently was intubated and mechanically ventilated. Computerized tomography of the brain at two days after birth showed a large sub-galeal hematoma involving the left fronto-parieto scalp and right parieto-occipital scalp, consistent with birth trauma. At four days after birth, the patient was noted to have seizures on electroencephalogram, which prompted genetic epilepsy panel testing (PreventionGenetics™). The patient was found to have a gene variant in the tuberous sclerosis-associated TSC2 gene (heterozygosity for c.3386G > A, p. Arg1129His). Varsome and Franklin prediction models categorized this as a “likely benign variant” and “variant of uncertain significance”, respectively. Nevertheless, given the unclear etiology of seizures, ophthalmology was consulted as part of a full systemic evaluation for tuberous sclerosis.
Ophthalmologic examination in the neonatal intensive care unit (NICU) revealed diffuse vitreous hemorrhage in one eye and a normal left eye. Ultrasonography in the NICU showed no tumors or masses. The patient was followed in the clinic and also underwent an examination under anesthesia before traveling back to the Cayman Islands. On fundus examination in the clinic, in the right eye there was a slightly hazy view with vitreous hemorrhage settling inferior to a nasal vascular lesion with intra-retinal hemorrhage, vascular bulbs, and overlying fibrosis ( Fig. 1 ). The left eye fundus examination was normal.
During examination under anesthesia, B-scan ultrasonography of the right eye showed a well-defined, acoustically solid lesion corresponding to the RCH, with overlying hyperreflective band corresponding to gliosis, and mobile vitreous opacities consistent with vitreous hemorrhage ( Fig. 2 ). There was no ultrasonographic evidence of retinal tear or detachment. A-scan ultrasonography of the lesion demonstrated high internal reflectivity, characteristic of a vascular lesion ( Fig. 3 ). Fluorescein angiography of the right eye showed characteristic features of RCH, including slow filling of aneurysms with late staining of the lesion without leakage. A large area of the lesion was poorly visualized due to blockage from vitreous hemorrhage ( Fig. 4 ). Optical coherence tomography (OCT) revealed sac-like aneurysms in the inner retina and overlying epiretinal membrane ( Fig. 5 ). All intraoperative imaging of the left eye was normal. At the end of the case, intravitreous avastin and sub-Tenon’s kenalog were administered to the right eye.
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