A Case of Cri du Chat Syndrome with Developmental Delay Misdiagnosed as Fetal Alcohol Syndrome / 대한소아신경학회지

Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features, and mental retardation. Some cases have been reported in the Korean literature, but no case reports about the concrete aspects of developmental delay in CdCS patients have been published. Therefore, we report a CdCS patient with developmental delay who was misdiagnosed as fetal alcohol syndrome. The result of the Korean-Child Development Review and Sequenced Language Scale for Infants showed severe developmental retardation, especially in expressive language.

A Case Report of Food-Dependent Exercise-Induced Anaphylaxis in a Patient who was Sensitive to Pork / 소아알레르기및호흡기학회지

Food-dependent exercise-induced anaphylaxis (FDEIA) is a specific variant of exercise-induced anaphylaxis that requires both vigorous physical activity and the ingestion of specific foods. In particular, it is rare occurrence for FDEIA to be associated with meat in Korea. A 15-year-old female had generalized urticaria, dyspnea, severe cough, headache, dizziness, and vomiting after singing and dancing for 1 hour and after ingesting grilled pork. Skin prick tests showed a strong positive reaction to pork, whereas the results of an oral food challenge and exercise provocation tests were negative. However, the exercise provocation test after pork ingestion showed a positive reaction manifested by generalized urticaria, cough, mild dyspnea, and a 23% decreased peak expiratory flow rate. Three allergens to pork (67 kDa, 90 kDa, and 15 kDa) reacted with the patient's serum on immunoglobulin E immunoblotting. We report a case of pork-dependent exercise-induced anaphylaxis in a patient who was sensitive to pork.