ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG. Other common phenotypes include developmental delay, seizures, intellectual disability, microcephaly, and hypotonia. Current management of ALG13-CDG is targeted to address patients\' symptoms. To date, less than 100 individuals have been reported with ALG13-CDG. In this article, an international group of experts in CDG reviewed all reported individuals affected with ALG13-CDG and suggested diagnostic and management guidelines for ALG13-CDG. The guidelines are based on the best available data and expert opinion. Neurological symptoms dominate the phenotype of ALG13-CDG where epileptic spasm is confirmed to be the most common presenting symptom of ALG13-CDG in association with hypotonia and developmental delay. We propose that ACTH/prednisolone treatment should be trialed first, followed by vigabatrin, however ketogenic diet has been shown to have promising results in ALG13-CDG. In order to optimize medical management, we also suggest early cardiac, gastrointestinal, skeletal, and behavioral assessments in affected patients.

Zellweger spectrum disorder (ZSD) is a rare, debilitating genetic disorder of peroxisome biogenesis that affects multiple organ systems and presents with broad clinical heterogeneity. Although severe, intermediate, and mild forms of ZSD have been described, these designations are often arbitrary, presenting difficulty in understanding individual prognosis and treatment effectiveness. The purpose of this study is to conduct a scoping review and meta-analysis of existing literature and a medical chart review to determine if characterization of clinical findings can predict severity in ZSD. Our PubMed search for articles describing severity, clinical findings, and survival in ZSD resulted in 107 studies (representing 307 patients) that were included in the review and meta-analysis. We also collected and analyzed these same parameters from medical records of 136 ZSD individuals from our natural history study. Common clinical findings that were significantly different across severity categories included seizures, hypotonia, reduced mobility, feeding difficulties, renal cysts, adrenal insufficiency, hearing and vision loss, and a shortened lifespan. Our primary data analysis also revealed significant differences across severity categories in failure to thrive, gastroesophageal reflux, bone fractures, global developmental delay, verbal communication difficulties, and cardiac abnormalities. Univariable multinomial logistic modeling analysis of clinical findings and very long chain fatty acid (VLCFA) hexacosanoic acid (C26:0) levels showed that the number of clinical findings present among seizures, abnormal EEG, renal cysts, and cardiac abnormalities, as well as plasma C26:0 fatty acid levels could differentiate severity categories. We report the largest characterization of clinical findings in relation to overall disease severity in ZSD. This information will be useful in determining appropriate outcomes for specific subjects in clinical trials for ZSD.

OBJECTIVE: Recently, there have been an increased number of reports on levetiracetam (LEV) induced cutaneous adverse drug reactions (CADRs). We aimed to identify and critically evaluate all the descriptive studies on LEV induced-CADRs and to describe the possible clinical manifestations, management, and treatment outcomes of the condition.
METHODS: PubMed and grey literature databases were searched from inception to June 2019 without any restriction. We also performed a bibliographic search for additional studies. Only descriptive studies on LEV-induced CADRs were included for our review. Study selection, data abstraction and quality assessment were performed by two contributors independently and disagreements were settled through consensus or through discussion with a third reviewer.
RESULTS: Data from 24 out of 88 studies, which included 25 patients (12 female and 13 male) aged from 40 weeks to 73 years, were reviewed. Patients received between 500 mg/day to 3000 mg/day of LEV. Drug reaction with eosinophilia and systemic symptoms syndrome, Steven-Johnson syndrome, toxic epidermal necrolysis, acute generalised exanthematous pustulosis, generalised hyperpigmentation and leucocytoclastic vasculitis were observed among the included patients. Immediate cessation of LEV, providing supportive care and use of topical antihistamines and anti-inflammatory drugs appeared to be the mainstay of management, and all patients were found to have recovered.
CONCLUSIONS: Clinicians should be aware of the possible CADRs induced by LEV to avoid the development of a potentially fatal condition. Immediate withdrawal of the drug and supporting care seem to be effective in the management of the CADRs.
BACKGROUND: International Prospective Register for Systematic Reviews (PROSPERO) number CRD42019141002.

Dementia is among the top 15 conditions with the most substantial increase in burden of disease in the past decade, and along with epilepsy, among the top 25 causes of years lived with disability worldwide. The epidemiology of dementia in persons with epilepsy, and vice versa, is not well characterized. The purpose of this systematic review was to examine the prevalence, incidence, and reported risk factors for dementia in epilepsy and epilepsy in dementia.
Embase, PsycINFO, MEDLINE, and the Cochrane databases were searched from inception. Papers were included if they reported the incidence and/or prevalence of dementia and epilepsy. Two individuals independently performed duplicate abstract and full-text review, data extraction, and quality assessment. Random-effects models were used to generate pooled estimates when feasible.
Of the 3,043 citations identified, 64 were reviewed in full text and 19 articles were included. The period prevalence of dementia ranged from 8.1 to 17.5 per 100 persons among persons with epilepsy (insufficient data to pool). The pooled period prevalence of epilepsy among persons with dementia was 5 per 100 persons (95% confidence interval [CI] 1-9) in population-based settings and 4 per 100 persons (95% CI 1-6) in clinic settings. There were insufficient data to report a pooled overall incidence rate and only limited data on risk factors.
There are significant gaps in knowledge regarding the epidemiology of epilepsy in dementia and vice versa. Accurate estimates are needed to inform public health policy and prevention, and to understand health resource needs for these populations.

Tumor lysis syndrome is an oncometabolic emergency resulting from rapid cell death. Tumor lysis syndrome can occur as a consequence of tumor targeted therapy or spontaneously. Clinicians should stratify every hospitalized cancer patient and especially those receiving chemotherapy for the risk of tumor lysis syndrome. Several aspects of prevention include adequate hydration, use of uric acid lowering therapies, use of phosphate binders and minimization of potassium intake. Patients at high risk for the development of tumor lysis syndrome should be monitored in the intensive care unit. Established tumor lysis syndrome should be treated in the intensive care unit by aggressive hydration, possible use of loop diuretics, possible use of phosphate binders, use of uric acid lowering agents and dialysis in refractory cases.

We describe a case report of persistent psychosis and severe medical complications in a previously healthy, 19-year-old African-American man after a single ingestion of what was purported to be \"Ecstasy.\" We detail the psychiatric symptoms and medical complications that resulted in several weeks of hospitalization in both medical intensive care and psychiatric units. Furthermore, we describe changes in the demographics of the use of Ecstasy and present the current understanding of the cause of neurotoxicity after Ecstasy use when it occurs. We conclude by suggesting actions clinicians can take to ameliorate the negative consequences of Ecstasy use.