RESUMEN
Eating epilepsy is a rare condition in children where seizures are triggered by the act of eating. An eight-year-old girl presented with seizures occurring primarily during mealtimes, characterized by a fixed gaze, jaw hypotonia, and impaired awareness. These seizures began at age seven, were initially uninvestigated, and progressively worsened over the year, reaching up to 20-30 episodes per meal. Diagnostic tests, including blood work, upper gastrointestinal endoscopy, psychiatric evaluation, and magnetic resonance imaging (MRI), were normal. The EEG showed generalized epileptiform activity, suggesting a seizure disorder, but the exact cause was unclear. After ruling out more common conditions with similar symptoms, such as gastroesophageal reflux disease, Sandifer syndrome, and psychogenic non-epileptic seizures, the diagnosis of reflex eating epilepsy was made in the end through a process of elimination, combining clinical features with EEG findings and through reviewing the literature. Treatment with oral sodium valproate monotherapy led to significant symptomatic improvement, reducing the frequency of seizures during meals.
RESUMEN
Fructose-1,6-bisphosphatase 1 (FBP1) deficiency is a rare autosomal recessive disorder of gluconeogenesis. Affected children present with severe hypoglycemia and lactic acidosis in infancy. We report a case of a female child, aged one year and six months, born out of a third-degree consanguineous marriage, who initially presented with sudden-onset vomiting episodes and failure to thrive. Despite a clinical suspicion of mitochondrial disorder, biochemical investigations revealed elevated levels of alanine, glycine, lactic acid, pyruvic acid, 3-hydroxy isovaleric acid, fumaric acid, and 4-hydroxy phenylacetic acid. Clinical exome sequencing confirmed homozygous inheritance of a mutated FBP1 gene, establishing the diagnosis of FBP1 deficiency. Differential diagnoses included mitochondrial disorders and transaldolase deficiency, but comprehensive genetic testing excluded these conditions. Management focused on dietary adjustments to avoid simple sugars and increase complex carbohydrates during illness. This case underscores the complexity of diagnosing rare metabolic disorders and highlights the pivotal role of genetic testing in accurate diagnosis and management.
RESUMEN
Background Myofunctional therapy has shown promise in addressing sleep-disordered breathing. This study aimed to investigate the efficacy of myofascial exercise and voluntary breathing techniques in reducing the apnea-hypopnea index (AHI) among adolescents. Methodology In this randomized controlled study, adolescents aged 13-18 with sleep-disordered breathing were randomly assigned to one of three groups (n=40 per group): myofascial exercise, voluntary breathing techniques, and a standard care control group. Baseline assessments, including the AHI and sleep quality, were conducted before the interventions. A polysomnography (PSG) sleep study was performed in a sleep laboratory, with recordings conducted over six to eight hours during the night to calculate the AHI. The myofascial exercise and voluntary breathing technique groups received their respective interventions, while the control group received standard care. Post-intervention assessments were conducted to measure changes in AHI and other outcomes. Results The study found no significant differences in age, BMI, and gender among the three groups. However, significant differences were observed in AHI and sleep quality measures. The control group's AHI was 8.72 ± 1.78, whereas the myofascial exercise group (4.82 ± 1.42) and the voluntary breathing group (6.81 ± 1.83) exhibited more substantial reductions (p < 0.001). Similarly, while baseline sleep quality scores did not differ, significant improvements were observed in all groups post-intervention, with more substantial enhancements in the myofascial exercise (4.38 ± 1.19) and voluntary breathing (7.23 ± 1.76) groups. The analysis of baseline AHI categories revealed no significant differences, but at follow-up, significant variations emerged among the groups, indicating greater reductions in AHI categories in the myofascial exercise and voluntary breathing groups compared to the control group. Conclusion These findings indicate that incorporating myofascial exercises or voluntary breathing techniques into treatment plans for adolescents with sleep-disordered breathing can result in significant improvements in AHI and overall sleep quality.