Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia.

Pseudo-hypertriglyceridemia is an overestimation of serum triglyceride levels due to laboratory assays that measure free glycerol concentrations instead of triglycerides directly. Consequently, conditions presenting with elevated levels of endogenous or exogenous free glycerol, such as glycerol kinase deficiency, result in an overestimation of serum triglycerides. Glycerol kinase deficiency (GKD) is caused by pathogenic variants of the GK gene on chromosome Xp21. GKD is characterized biochemically by hyperglycerolaemia and glyceroluria. We herein report a 2-year-old male presented with a history of global developmental delay, axial hypotonia, poor head control and inability to sit unassisted or walk with elevated triglycerides at 683 (normal 44-157 mg/dL). Organic acid analysis showed abnormal accumulation of glycerol. Chromosomal microarray results showed a 4.2 Mb deletion of Xp21.3p21.1 (29296579-33551038) including complete copies of GK, DMD, and NR0B1 genes as well as multiple exons of IL1RAPL1. This confirmed his glycerol kinase deficiency (GKD) as part of the Xp21 continuous gene deletion syndrome. Elevated triglycerides were then recognized as pseudo-hypertriglyceridemia after the diagnosis. The younger sister and the mother have presented with developmental delay, and have been found to have same mutation. This family highlights the importance recognizing pseudohypertriglyceridemia and diagnostic challenges. Earlier identification through urine organic acid analysis could have been made. The combination of clinical presentations and increased glycerol should cause suspicion for GKD.

Zoster meningitis in an immunocompetent young patient post first dose of BNT162b2 mRNA COVID-19 vaccine, a case report.

Recently published observational data suggests an increased risk of herpes zoster infection post-vaccination with the BNT162b2 mRNA vaccine. We describe the case of VZV meningitis post BNT162b2 mRNA vaccination in a young immunocompetent patient. A 39-year-old patient with no medical history presented with a vesicular rash, headache, nausea and fever, days after receiving BNT162b2 mRNA vaccination. CSF analysis revealed a pleocytosis, and VZV DNA was confirmed by PCR testing. The patient received intravenous aciclovir with resolution of symptoms within 48 h. He was discharged after 14 days of treatment. Case reports of herpes zoster reactivation post vaccination and details of subsequent successful vaccination course completion have allowed us to recommend the patient receive his second dose of the BNT162b2 mRNA vaccine. At the time of writing, however, the patient has declined to receive further vaccination due to fears of an adverse event. To the best of our knowledge, this is the first reported case in a young patient of herpes zoster meningitis following COVID-19 mRNA vaccination. The sharing of clinical experiences and reporting of suspected side effects, particularly for vaccines that employ novel technology, increases knowledge of the safety profile of these vaccines and allows clinicians to better aid patients make informed decisions with regard to commencing and completing vaccination.

Eosinophilic Granulomatosis Polyangiitis (EGPA) Masquerading as a Mycotic Aneurysm of the Abdominal Aorta: Case Report and Review of Literature.

INTRODUCTION: Aortic involvement leading to aortitis in eosinophilic granulomatosis polyangiitis (EGPA) is infrequent, and only 2 cases have been reported so far in the literature. Even more so, aortic aneurysm, secondary to EGPA, has never been reported and remains a diagnostic and therapeutic challenge. Case Presentation. We present a 63-year-old Caucasian male patient with a prior diagnosis of EGPA presenting with abdominal pain, nausea, and loose stools to the emergency department. Physical examination showed periumbilical tenderness. He had no peripheral eosinophilia but had high C-reactive protein and procalcitonin levels. CT abdomen revealed a mycotic aneurysm involving the infrarenal abdominal aorta. The patient declined surgical repair initially and was treated with IV antibiotics only. Unfortunately, 24 hours later, the aneurysm ruptured, leading to emergent axillofemoral bypass surgery. Surgical biopsy showed aortitis, periaortitis, and active necrotizing vasculitis. CONCLUSION: Abdominal aneurysms should be considered a complication of EGPA, and earlier immunosuppressive therapy should be considered to prevent further complications.

Nutritional requirements in pregnancy and use of dietary supplements.

A new British Nutrition Foundation (BNF) Task Force report has been published, which looks in detail at the impact of early life nutrition on health and the risk of diseases in later life, including obesity, diabetes, cardiovascular disease, cancer, bone health, allergic disease and cognitive function. One of the aspects that the report covers in detail is the health and nutrition of pregnant women and where improvements in the maternal diet could be made. This article focuses on the report's findings with regard to the essential nutrients folic acid and vitamin D, including current intakes and status, uptake of supplements and vulnerable groups that are falling short of dietary guidelines.

Dietary factors and depression in older people.

Depression is one of the most prevalent mental health conditions and can affect people of all ages, but it is becoming more common among the older population with increasing life expectancy. Observational studies have found poor micronutrient status (particularly folate and vitamin B12) to be associated with an increased risk of depression in older people. Supplementation with folic acid has been shown to enhance anti-depressant drug treatment and there is preliminary evidence that supplementation with certain micronutrients may help improve depressive symptoms in older patients. There has also been a lot of interest in the role of long-chain omega-3 fatty acids in depression. However, the evidence from randomized controlled trials is limited and difficult to evaluate owing to considerable variability between studies. The research highlights the importance of a healthy diet and lifestyle to help maintain good mental health into old age and health professionals should try to support older people in trying to achieve this.

Functional foods: what are the benefits?

Functional foods and drinks are products that have been enriched with added nutrients or other substances that are considered to have a positive influence on health. Examples include probiotic yogurts, cholesterol-lowering spreads and foods with added nutrients, such as omega-3 fatty acids. This article considers a number of the more popular functional foods currently on the market, looking at how they may benefit our health and the evidence behind some of the claims being made about them. There is good evidence for the efficacy of some functional food products, for example cholesterol-lowering spreads have been proven to be effective in human trials. However, there is currently little evidence that foods with added omega-3 fatty acids can help improve brain function in 'normal' individuals. Other important factors, such as the amount of functional food that must be consumed to provide a health benefit, are also considered.

Gluten ataxia.

Gluten ataxia is an immune-mediated disease triggered by the ingestion of gluten in genetically susceptible individuals. It should be considered in the differential diagnosis of all patients with idiopathic sporadic ataxia. Early diagnosis and treatment with a gluten free diet can improve ataxia and prevent its progression. Readily available and sensitive markers of gluten ataxia include antigliadin antibodies. IgA deposits against TG2 in the small bowel and at extraintestinal sites are proving to be additional reliable and perhaps more specific markers of the whole spectrum of gluten sensitivity. They may also hold the key to its pathogenesis.

Nutrition for toddlers: practical advice to give parents.

The author outlines the types of foods that toddlers should be eating to meet their energy and nutrient requirements. This article includes practical tips that can be given to parents, for example how to encourage toddlers to eat more fruit and vegetables, and what drinks should be given. It covers foods to avoid and issues that parents may be concerned about, such as fat, sugar and salt in foods. Dietary case studies of individual children are included, based on seven-day food diaries. The case studies include commentaries on the nutritional quality of the diets and practical suggestions for improvements.