Xeropthalmia and optic neuropathy secondary to ARFID: a case report.

BACKGROUND: Patients with avoidant/restrictive food intake disorder (ARFID) commonly present with loss of weight or faltering growth in the setting of poor nutrition. However, patients with ARFID can present with micronutrient deficiencies without weight loss. In patients with ARFID, clinicians should be vigilant for micronutrient deficiencies and their presentations. CASE PRESENTATION: We report a unique case of ARFID in a twelve-year-old girl, who developed micronutrient deficiencies and presented with acute visual loss with a preceding history of impaired night vision. Ophthalmic examination revealed xerophthalmia and bilateral optic neuropathy. Investigations showed severe Vitamin A and folate deficiencies which accounted for her clinical findings. In addition, she was also found to have low Vitamin B12, copper, and Vitamin D levels. She had a history of selective eating from a young age with a diet consisting largely of carbohydrates, with no regular intake of meat, dairy, fruit and vegetables. This was not driven by weight or body image concerns. The patient's symptoms improved significantly with appropriate vitamin replacement and continued multidisciplinary care. CONCLUSIONS: This report describes a patient with ARFID presenting with visual complaints. In this case, the selective eating behaviours resulted in xeropthalmia and optic neuropathy. Micronutrient deficiencies are uncommon in developed countries. When these deficiencies are suspected, eating disorders, such as ARFID, should be considered. Similarly, clinicians caring for patients with restrictive eating disorders including ARFID should be familiar with the clinical presentations of various micronutrient deficiencies and consider evaluation and treatment for micronutrient deficiencies when clinically indicated.

A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive inherited disorder caused by mutations in ROBO3 gene. The clinical features of HGPPS include horizontal gaze palsy, progressive scoliosis, other oculomotor abnormalities such as strabismus and nystagmus. Whole-exome sequencing (WES) is used to diagnose rare Mendelian disorders, when routine standard tests have failed to make a formal pathological diagnosis. However, WES may identify variants of uncertain significance (VUS) that may add further ambiguity to the diagnosis. We report the case of a 4-year-old boy with horizontal gaze palsy, progressive scoliosis, microcephaly, and mild developmental delay. WES identified an intronic VUS in ROBO3 gene. We performed minigene splicing functional analysis to confirm the pathogenicity of this VUS. This report illustrates that WES data analysis with supportive functional analysis provides an effective approach to improve the diagnostic yield for unsolved clinical cases. This case also highlights the phenotypic heterogeneity in patients with HGPPS.

Evaluating the relationship between right-to-left shunt and white matter hyperintensities in migraine patients: A systematic review and meta-analysis.

Introduction: White matter hyperintensities (WMHs) have been observed with greater frequency in patients with migraine and are thought to be associated with impaired cognition and function. The relationship between WMHs and right-to-left shunt (RLS) in migraine patients is unknown. We performed a systematic review to determine if there is an association between RLS and WMHs in patients with migraine. Methods: A systematic search of the literature was performed in PubMed and Embase using a suitable keyword search strategy from inception up to 16th June 2021. All studies that included patients with migraine and studied RLS and WMHs were included. Results: A total of 8 non-randomized observational studies comprising 1125 patients with migraine were included; 576 had an RLS, compared to 549 patients with no RLS. The mean age of the study populations ranged from 28.4 to 43 years, while the average duration from migraine diagnosis ranged from 5.1 to 19 years. The proportion of female to male patients was consistently higher in all studies (60.0-94.4%). Amongst migraine patients with RLS, 338 patients (58.7%) had WMHs. In contrast, 256 (46.6%) of migraine patients without RLS had WMHs. RLS was significantly associated with the presence of WMHs in migraine patients (OR: 1.56, 95% CI: 1.05-2.34, p = 0.03). Conclusion: In migraine patients, RLS was significantly associated with the presence of WMHs. Longitudinal studies are warranted to establish RLS as a risk factor for WMHs in patients with migraine, and to establish the significance of these changes.

A retrospective study of pediatric thyroid eye disease: the Asian experience.

AIM: To study the clinical presentation, disease characteristics, and management approach for children with thyroid eye disease (TED) over a 10 year period in a multidisciplinary Paediatric Thyroid Eye Disease Clinic at a tertiary care referral center. METHODS: Retrospective case series of patients with TED at Kandang Kerbau Women's and Children's Hospital (KKWCH) Singapore between August 2006 to June 2015. The diagnosis of TED was clinical based on the Bartley criteria. Ophthalmic examination findings, systemic thyroid function and ophthalmological intervention were recorded. RESULTS: Nineteen subjects with pediatric TED were studied. The median age at diagnosis was 12.5 years (range 6-17). The onset of TED was at the same time as their thyroid disease in half of these patients (52.6%) of which all were hyperthyroid except one. The most common signs at TED diagnosis were proptosis (84.2%), lid retraction (63.2%), acquired epiblepharon (63.2%). All patients were inactive and none had evidence of compressive optic neuropathy. TED remained stable in all patients except for one who developed worsening proptosis with exposure keratopathy. No patients were prescribed steroids (oral or intravenous) or had orbital decompression surgery. The most debilitating morbidity was acquired epiblepharon of which out of 12 patients, one had everting sutures and three were offered surgical correction. CONCLUSIONS: Paediatric TED subjects exhibit milder clinical manifestations compared to adults. Acquired epiblepharon causes most significant visual morbidity by compromising the corneal surface. Being cognizant of the subtleties of pediatric TED will permit the discerning clinician to effectively manage such cases accordingly.

Epidemiologically Linked COVID-19 Outbreaks at a Youth Camp and Men's Conference - Illinois, June-July 2021.

On June 30, 2021, the Illinois Department of Public Health (IDPH) contacted CDC concerning COVID-19 outbreaks at two events sponsored by the same organization: a 5-day overnight church camp for persons aged 14-18 years and a 2-day men's conference. Neither COVID-19 vaccination nor COVID-19 testing was required before either event. As of August 13, a total of 180 confirmed and probable cases had been identified among attendees at the two events and their close contacts. Among the 122 cases associated with the camp or the conference (primary cases), 18 were in persons who were fully vaccinated, with 38 close contacts. Eight of these 38 close contacts subsequently became infected with SARS-CoV-2, the virus that causes COVID-19 (secondary cases); among the eight close contacts with secondary cases, one half (four) were fully vaccinated. Among the 180 total persons with outbreak-associated cases, five (2.8%) were hospitalized; no deaths occurred. None of the vaccinated persons with cases were hospitalized. Approximately 1,000 persons across at least four states were exposed to SARS-CoV-2 through attendance at these events or through close contact with a person who had a primary case. This investigation underscores the impact of secondary SARS-CoV-2 transmission during large events, such as camps and conferences, when COVID-19 prevention strategies are not implemented. In Los Angeles County, California, during July 2021, when the SARS-CoV-2 B.1.617.2 (Delta) variant was predominant, unvaccinated residents were five times more likely to be infected and 29 times more likely to be hospitalized from infection than were vaccinated residents (1). Implementation of multiple prevention strategies, including vaccination and nonpharmaceutical interventions such as masking, physical distancing, and screening testing, are critical to preventing SARS-CoV-2 transmission and serious complications from COVID-19.

Functional and psychosocial impact of strabismus on Singaporean children.

PURPOSE: To quantify the effects of strabismus in Singaporean children using the Intermittent Exotropia Questionnaire (IXTQ) and the Adult Strabismus 20 Questionnaire (AS20). METHODS: Consecutive strabismus patients 5-16 years of age were recruited along with an equal number of age-matched controls with eye conditions other than strabismus and amblyopia (group A) and controls with no known eye conditions (group B). All children completed the IXTQ; those 8-16 years of age also completed the AS20 questionnaire. Parents completed the parental proxy IXTQ (pp-IXTQ) and AS20 (pp-AS20) and a parental IXTQ (PIXT). RESULTS: A total of 60 patients and 60 age-matched controls in each group were included. Children with strabismus had lower IXTQ (70.1 ± 19.0) and AS20 (80.0 ± 13.8) scores than those in group B (IXTQ, 90.3 ± 11.8 [P < 0.001]; AS20, 90.0 ± 10.9 [P < 0.001]) and group A (IXTQ, 80.6 ± 14.9 [P = 0.001]; AS20, 81.6 ± 18.3 [P = 0.691]). Among children with strabismus, child IXTQ scores were significantly lower than parental proxy scores (70.1 ± 19.0 vs 76.4 ± 15.8 [P = 0.026]), but there was no difference in control group scores or with AS20 scores. Item-level analysis suggested that children's worry focused on what others thought about them and their ability to make friends, whereas parents were more concerned about eyesight and whether surgery was required. CONCLUSIONS: The IXTQ and AS20 were better at differentiating between children with strabismus and those with no eye condition than between children with strabismus and other eye conditions. Parental proxies were accurate in predicting child scores but parents were more likely to underestimate the psychosocial effects of their children's strabismus.