A Case of Cyclic Vomiting Syndrome-Induced Hypertension Causing Posterior Reversible Encephalopathy Syndrome.

Cyclic vomiting syndrome (CVS) is characterized by repeated episodes of vomiting in a stereotyped pattern and is a known cause of hypertension. Our patient is a 10-year-old female who presented with nonbilious, nonbloody vomiting, and constipation concerning for a flare of her known CVS. During the hospital course, she developed intermittent severe hypertensive episodes, leading to an acute episode of altered mental status and a tonic-clonic seizure. Magnetic resonance imaging confirmed diagnosis of posterior reversible encephalopathy syndrome (PRES) after eliminating other organic etiologies. This is one of the first documented cases of CVS-induced hypertension causing PRES.

A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy.

BACKGROUND: The major facilitator superfamily domain-containing protein 8 (MFSD8) pathogenic variants are classically associated with autosomal recessive neuronal ceroid lipofuscinosis-7. Case reports have recently demonstrated an association of MFSD8 variants causing autosomal recessive macular dystrophy with central cone involvement without neurologic sequelae. We report a patient with a novel ocular phenotype associated with MFSD8 pathogenic variants causing macular dystrophy without systemic findings. CASE PRESENTATION: A 37-year-old female presented with a 20-year history of progressive bilateral vision loss. Fundus examination was notable for a slight pigmentary ring around the fovea in both eyes. Optical coherence tomography (OCT) of the macula showed bilateral subfoveal ellipsoid zone loss without outer retinal changes. Fundus autofluorescence (FAF) demonstrated foveal hypo-autofluorescence (AF) in both eyes as well as hyper-AF nasally to the optic nerve in the perifoveal area. Full-field and multifocal electroretinography demonstrated cone dysfunction with diffuse macular changes in both eyes. Subsequent genetic testing identified two pathogenic MFSD8 variants. The patient had no neurologic symptoms consistent with variant-late infantile neuronal ceroid lipofuscinosis. CONCLUSION: MFSD8 pathogenic variants are known to cause macular dystrophies. We report a novel MFSD8-associated macular dystrophy phenotype demonstrating foveal-limited disease with cavitary changes on OCT without inner retinal atrophy and foveal-specific changes on FAF. A threshold model can explain how a hypomorphic missense variant heterozygous with a loss-of-function nonsense variant can lead to a predominantly ocular phenotype with preserved neurologic function. We recommend careful monitoring of these patients for future signs of both retinal and systemic disease progression.

Understanding individual and socio-cultural factors associated with hispanic parents' provision of sugar-sweetened beverages to young children.

Sugar-sweetened beverages (SSBs) contribute to childhood obesity, long-term risks for diet-related diseases, and health disparities affecting communities of color. Hispanic children are disproportionately affected by obesity, but research is needed to better understand culturally specific reasons for providing SSBs to Hispanic children. This exploratory study utilized the Social Ecological Model framework to evaluate Hispanic parents' perceptions of SSBs and serving them to young children. A cross-sectional survey (in English and Spanish) used a national US online panel to recruit a convenience sample of Hispanic parents (N = 350) with young children (aged 1-5 years). Participants reported types of drinks and SSB brands that they served their child in the past month and rated drink healthfulness. Attitude questions assessed individual, community-level, and socio-cultural factors, including normative beliefs, about serving SSBs to young children. Nearly all parents (98%) reported serving their child SSBs in the past month, averaging 6.7 different SSB types. For all categories of SSBs except fruit-flavored drinks, parents who served that type of SSB rated it as significantly healthier than parents who did not serve them. A linear regression model examined associations between individual and socio-cultural factors and number of SSB types served to their child. In the model, higher average rating of SSB healthfulness, child's age, normative beliefs that others serve SSBs to children, being born in the US/Puerto Rico, and parent and child enjoyment of SSBs were positively associated with serving more SSB types, while concerns about SSBs for their own health was negatively related. Language-related acculturation and community-level factors assessed were not significant. Public health initiatives should focus on healthfulness misperceptions of some SSB categories and address normative beliefs to help reduce serving SSBs to Hispanic children.