No abstract

Avoidant/restrictive food intake disorder (ARFID) is an eating disorder characterized by avoidance and aversion to food and eating. Food restriction is not due to a body image disturbance but rather to an anxiety or phobia of food and eating or abnormal hypersensitivity to food, such as its texture, taste, or smell, or a lack of interest in food/eating. We herein report a seven-year-old girl with dysphagia due to a fear of swallowing with a favorable outcome thanks to cognitive behavioral therapy using an anxiety hierarchy chart. After a scary experience of seeing her bother choking on a sausage, the patient struggled with a strong fear of eating, especially swallowing, and was diagnosed with ARFID. We constructed a hierarchical chart of food insecurity, listing her favorite sweets in order, from soft to hard. She picked out daily sweets and snacks from the list. She gradually learned to eat hard-shaped food, achieved an adequate oral calorie intake, and was discharged on the twenty-second hospital day. This case indicates that cognitive behavioral therapy using the anxiety hierarchy chart can be applied to the treatment of school-age children with ARFID.

A 7-month-old boy with pulmonary atresia and an intact ventricular septum underwent a bidirectional Glenn operation. Perioperative intubation lasted for 8 hours, and immediately after extubation, the boy presented with severe inspiratory stridor and chest retraction. Diagnosis of bilateral vocal cord paralysis was made based on the findings of flexible laryngoscopy, which revealed vocal cords fixed in the medial position. We speculated that the posterior cricoarytenoid muscle, the only internal laryngeal muscle that opens the vocal cords, was compressed between the tracheal tube and transesophageal echocardiography probe during treatment. The repetitive mechanical compression may have then caused muscle damage that resulted in bilateral vocal cord paralysis. Re-intubation was avoided considering that it would result in further airway damage; therefore, we placed the boy under mild sedation that did not suppress spontaneous breathing. Over the following 4 weeks, the respiratory symptoms gradually alleviated and improvement of vocal cord mobility was confirmed by laryngoscopy. The optimal treatment strategy in cases of vocal cord paralysis is selected according to the clinical presentation. However, evaluation of the underlying pathophysiological mechanisms by laryngoscopy may be vital.

CHARGE syndrome is a malformation disorder with diverse phenotypes that shows autosomal dominance with heterozygous variants in the chromodomain helicase DNA‐binding 7 (CHD7) gene. Only a few cases of CHARGE syndrome accompanied by neoplasm during childhood have been reported. We report the case of a girl with CHARGE syndrome who developed acute myelogenous leukemia at 12 years old. She had mild intellectual disability, and hearing loss with inner ear malformation, myopia, astigmatism, laryngotracheal malacia, hypogonadism, and clival hypoplasia, with a history of patent ductus arteriosus. The patient was genetically diagnosed with CHARGE syndrome based on the detection of a novel heterozygous frameshift pathogenic variant in the CHD7 gene. We review the reported pediatric cases of CHARGE syndrome with malignancy and suggest a possible molecular mechanism of carcinogenesis involving pathogenic variants of the CHD7 gene.