Idiopathic photosensitive occipital lobe epilepsy is a reflex, age- and localization-related syndrome. We describe the clinical and electroencephalographic features, therapy, and outcome of 16 children/adolescents with this syndrome. The cohort included 2 sets of siblings and 7 patients with other first- or second-degree relatives with a seizure history. All patients had occipital onset seizures and 15 had secondarily generalized tonic-clonic seizures. Seizure frequency was relatively low in all patients but one. Myoclonic seizures later developed in 2 patients with juvenile myoclonic epilepsy. Eight patients achieved full seizure control with monotherapy, and 5 required a second drug; 3 patients had rare seizures and were not treated with antiepileptics. Seven patients required special education or developmental assistance. This interesting syndrome sheds light on the pathophysiology and genetic etiology of common phenomena such as photosensitivity and headache. Further large prospective studies are required to better define this unique syndrome and its implications.
Reversible airway obstruction is common in CF, more frequent in younger patients and with severe genotype, with no correlation to markers of atopy or CF clinical severity. Bronchodilator and inhaled corticosteroid therapies are commonly prescribed even without reversible obstruction.
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy. As a result of progressive muscle weakness, pulmonary function decreases during the second decade of life and lung disease contributes significantly to morbidity and mortality in these patients. Corticosteroids are the current standard of care for patients with DMD, despite known adverse effects such as obesity and immunosuppression.
Over the past year (2020), the novel coronavirus (COVID-19/SARS-CoV2) outbreak has caused a global pandemic. Restrictive lung disease due to low lung volumes, chronic immunosuppressive treatment with corticosteroids, and obesity are potential risk factors that may contribute to a more severe course of the disease. Out of 116 Duchenne/Becker muscular dystrophy patients treated in our tertiary neuromuscular center, six patients with DMD and one with advanced Becker muscular dystrophy were found to be positive for COVID-19 infection. Two of the DMD patients were admitted for hospitalization, of whom one was dependent on daily nocturnal non-invasive ventilation. All patients recovered without complications despite obesity, steroid treatment and severe restrictive lung disease.
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