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We discuss the case of a 5-year-old boy who presented with an isolated left-sided cranial nerve 7 palsy that was initially magnetic resonance imaging negative. Owing to continued symptoms, repeat magnetic resonance imaging was performed and showed a temporal bone encephalocele. A review of the differential diagnosis of cranial nerve 7 palsy, warning signs signaling the need for additional workup, and a discussion of temporal lobe encephaloceles is provided in this case report. It is important to recognize that structural lesions can closely mimic idiopathic Bell’s palsy, despite initial negative imaging. [ABSTRACT FROM AUTHOR]

Background Global developmental delay is usually defined as significant delay in two or more domains of development. Etiologic diagnosis generally proves difficult and the etiology remains undetermined in up to 62% of these children. Those in whom an etiology is established generally undergo an exhaustive and costly diagnostic evaluation, even though this may not change the medical or therapeutic management of the delay. The history and physical examination may provide up to 40% of etiologic diagnoses if adequately conducted. Methods We performed a critical review of the literature on global developmental delay via PubMed. Results Five major etiologic categories for global developmental delay were identified and traits of the history and physical examination suggestive for their diagnosis were described. Additionally, current diagnostic tools and their benefits and limitations were appraised. Conclusions We propose an improved approach to enhance clinical diagnosis in both resource-rich and resource-limited settings favoring early intervention and management. [ABSTRACT FROM AUTHOR]

This updated review of pediatric idiopathic intracranial hypertension focuses on epidemiology, clinical presentations, diagnostic criteria, evaluation, clinical course, and treatment. General guidelines for the clinical management of idiopathic intracranial hypertension are discussed. A new algorithm outlines an efficient management strategy for the initial diagnostic evaluation of children with signs or symptoms of intracranial hypertension. This algorithm provides a systematic approach to initial evaluation and management, and identifies important decision-making factors. The risk of permanent visual loss with idiopathic intracranial hypertension necessitates a prompt, thorough collaborative approach in the management of patients. Although idiopathic intracranial hypertension has been recognized for over a century, the need remains for prospectively collected data to promote a better understanding of the etiology, risk factors, evaluative methods, and effective treatments for children with this syndrome. [ABSTRACT FROM AUTHOR]

The aim of this study was to determine the incidence and describe the factors influencing ictal cardiac arrhythmias in children with epilepsy. A 2-year review within a pediatric epilepsy monitoring unit revealed 2066 electrographically confirmed seizures in 139 patients. Demographic, seizure, and cardiac variables were collected for each patient. Fisher''s exact test, Wilcoxon rank-sum test, and Spearman''s rank correlation coefficient were used to identify significant differences and associations at the seizure and patient levels. In 244 seizures meeting inclusion criteria, ictal cardiac arrhythmias were seen in 45% of the seizures (40% of the patients). The most common arrhythmia was benign respiratory sinus arrhythmia (78% of seizures with arrhythmias, 70% of patients with arrhythmias). Potentially serious arrhythmias included irregular variable arrhythmias, and abnormal QRS intervals were seen in 12% of all the patients. In seizures with ictal arrhythmias, 64% occurred in male patients (P = 0.016) and 78% occurred in white patients (P = 0.013). This study estimates the incidence of ictal arrhythmias within the pediatric population that need further medical attention and management. [Copyright &y& Elsevier]

To describe features of menstruation, menstrual-related symptoms, and menstrual management in females with Rett syndrome (RTT) to help develop a clinical approach to these parameters in RTT. Retrospective cross-sectional chart review and prospective survey. Cincinnati Children's Hospital Medical Center, Rett Syndrome and Related Spectrum Disorders Clinic. Females with RTT (12-55 years of age) and their caregivers. Descriptive data on features of menstruation and menstrual-related symptoms in individuals with Rett syndrome; prevalence, types, reason for use/discontinuation, and efficacy of hormonal treatment in females with RTT. Age at menarche, menstrual cycle length, and menstrual period length in females with RTT are comparable to those in typically developing females and females with other neurodevelopmental disabilities. Dysmenorrhea and emotional lability are common menstrual cycle−related changes among females with RTT; 22.1% of participants also reported catamenial seizures. Oral progestin, combined oral contraceptive pill, and depot-medroxyprogesterone acetate (DMPA) were effectively used to suppress or regulate menstruation and to manage menstrual-related symptoms. Characteristics of menstruation in females with RTT are comparable to those of typically developing females, with the exception of increase in catamenial seizure activity. Hormonal treatments are used for management of menstruation, dysmenorrhea, and seizures. Choice of hormonal treatment is influenced by bone health and immobility in females with RTT. [ABSTRACT FROM AUTHOR]

Background: Rett syndrome is a common genetic cause of intellectual disability in girls caused by a mutation in the MECP2 gene. Diagnosis is based on clinical criteria. The aim was to compare the frequencies of the clinical criteria in patients with and without MECP2 mutations.Methods: We performed a retrospective review at a children's hospital of patients who underwent MECP2 testing from 2008 to 2013. Logistic regression was performed to determine which criteria were most predictive of MECP2 status.Results: Of 169 patients who met inclusion criteria, 46 (27.2%) were MECP2 positive. Loss of language skills (MECP2+ 100% versus MECP2- 87.8%; P = 0.012) was the most common finding among both groups. Other main criteria were more common in MECP2 patients: gait abnormalities (84.8% versus 27.6%; P < 0.0001); stereotypic hand movements (76.1% versus 15.5%; P < 0.0001); loss of hand skills (71.7% versus 4.9%; P < 0.0001). Logistic regression analysis including all four criteria demonstrated language loss was not predictive.Conclusions: Loss of hand skills resulted in the highest odds of having a positive genetic test. Gait abnormalities and stereotypic hand movements were also strong predictors of MECP2+ testing. Many individuals with language delay had genetic testing; however, this is the least specific of the major criteria. These findings have implications for which patients should have genetic testing. [ABSTRACT FROM AUTHOR]