ABSTRACT
Migraine is a common neurological disorder affecting 12% of the global population. The common risk factors are adolescent age, genetics, and female sex, and are triggered by hormonal fluctuations, emotional stress, sensory overload, weather changes, alcohol consumption, fasting, cheese, chocolate, smoked fish, yeast extract, cured meats, artificial sweeteners, food preservatives containing nitrates and nitrites, and sleep disturbances. Migraine with aura is associated with an increased risk of cardiovascular disease events, such as myocardial infarction, angina pectoris, and cardiac arrhythmias, and has recently been added to the QRISK3 cardiovascular disease prediction score. Population-based cohort studies have shown a significant association of migraine with aura and cardiac arrhythmias, most importantly atrial fibrillation. Patients suffering from migraine with aura are at an increased risk for cardiac arrhythmias; thus, it is essential to screen these patients for undiagnosed cardiovascular disorders.
ABSTRACT
[This corrects the article DOI: 10.7759/cureus.29270.].
ABSTRACT
De Barsy syndrome (DBS) is an exceedingly rare autosomal recessively inherited genetic disorder that manifests as premature aging with progeroid features. Typically, the skin loses its elasticity, causing laxity, wrinkling, and sagging. Other characteristics include ophthalmological, orthopedic, and neurological abnormalities. As of 2011, only 27 DBS cases had been recorded. This paper reports the case of a two-day-old female infant who was referred to the pediatrics department with complaints of lax skin, a progeroid appearance, a short stature, hazy corneas, and bilateral claw-like hands with thin overlapping fingers. She also had features of pectus excavatum and visible veins over her chest and abdomen. There was a history of third-degree consanguineous parents in this patient. This patient was diagnosed with De Barsy syndrome due to findings on the Verhoeff Van Gieson staining, which demonstrated a marked decrease in elastic tissue fibers. Palliative care was recommended for this infant. We report this case considering its extreme rarity.
ABSTRACT
Wilson disease is an inherited disorder of copper metabolism with an autosomal recessive inheritance pattern (hepatolenticular degeneration). In this case, a 13-year-old child was seen with overall exhaustion, sporadic abdominal discomfort, and shrinking handwriting during the previous 12 months. On clinical examination there was hepatosplenomegaly. Routine blood work revealed anemia, leukopenia, thrombocytopenia, elevated total and indirect bilirubin, alkaline phosphatase and transaminitis. Serum ceruloplasmin is decreased, urine copper excretion is increased. Slit lamp examination revealed Kayser-Fleischer rings in both eyes. Ultrasonography (USG) abdomen confirmed hepatosplenomegaly, coarse echotexture of the liver. MRI Brain revealed the bilateral and diffuse and symmetric hyperintensity of caudate and lentiform nuclei, which are consistent with the neuro-parenchymal changes of Wilson's disease. We report this case due to its rare incidence and atypical presentation and to highlight the importance of clinical examination in reaching the diagnosis.
