Dataset Information

Sympathetic Ophthalmia in a 22-Month-Old Infant With Sturge-Weber Syndrome With Atypical Histopathological Correlation.

ABSTRACT:

Purpose

Sturge-Weber syndrome (SWS) and sympathetic ophthalmia (SO) are unusual pathologies. Their association has not been previously reported. This unusual diagnosis can be elucidated by clinical suspicion.

Methods

Case report of a 22-month-old female with SO.

Results

SWS with a unilateral diffuse choroidal hemangioma. The exciting eye had multiple surgeries for glaucoma that required enucleation. Clinical picture of SO was found on the sympathizing eye. Atypical histopathology (nongranulomatous choroidal infiltrate and perivascular mononuclear cells) is found in the enucleated eye.

Conclusions

To the best of the authors' knowledge, this is the first description of an association of SWS, diffuse choroidal hemangioma, infantile glaucoma, and SO. Many confounding factors are present (ie, multiple surgeries, risk of infectious endophthalmitis). Therefore, a high index of suspicion must be kept in mind to make the diagnosis. We aim to raise awareness of such a devastating condition in a pediatric patient with many comorbidities.

SUBMITTER: Cernichiaro-Espinosa LA

PROVIDER: S-EPMC8291720 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:AIM:We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. METHODS:Subjects were seen clinically and consented for research. All 22 patients filled out the Pediatric Neuro-QoL. The Neuro-QoL subscores were converted to T-scores to compare with the referenced control population. Twenty-one participants also filled out the Brain Vascular Malformation Consortium Database Questionnaire containing data pertaining to Sturge-Weber syndrome-related medical history, medications, comorbidities, and family history. All data were analyzed with a significance threshold of P < 0.05. RESULTS:Cognitive function quality of life was significantly lower (P < 0.001) in pediatric patients with Sturge-Weber syndrome compared with referenced control subjects. Male gender (P = 0.02) was associated with lower cognitive function Neuro-QoL. The extent of skin (R = -0.46, P = 0.04), total eyelid port-wine birthmark (R = -0.56, P = 0.007), eye (R = -0.58, P = 0.005), and total Sturge-Weber syndrome involvement (R = -0.63, P = 0.002) were negatively correlated with cognitive function Neuro-QoL. A younger age at seizure onset was associated with lower cognitive function Neuro-QoL (hazard ratio = 0.90, P = 0.004) even after controlling for extent of brain, skin, or eye involvement. Antidepressant use was associated with lower cognitive function Neuro-QoL (P = 0.005), and cognitive function Neuro-QoL was negatively correlated with depression Neuro-QoL; however, after adjusting for depression this relationship was no longer significant. CONCLUSIONS:The results suggest targeting cognitive function Neuro-QoL in treatment trials and reiterate the prognostic value of early seizure onset. In addition, sex-related differences were noted, which should be further studied.