4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay.

We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. ARS is characterized by the aplasia of the anterior eye, odontogenesis, and abdominal wall aplasia. In our case, iris coloboma and omphalocele were thought to be caused by PITX2 haploinsufficiency. However, these symptoms are nonspecific, and clinical symptoms alone can make it difficult to make a correct diagnosis. In addition, the genes responsible for developmental delay, among others, are not well understood. Developmental delay, in this case, might be caused due to NEUROG2 haploinsufficiency. In spite of the partial deletion of ANK2, the causative gene of long QT syndrome type 4, the electrocardiogram was normal. Genetic testing can lead to a correct diagnosis, and it may be effective in detecting complications.

Safety of Low-Dose Oral Food Challenges for Hen's Eggs, Cow's Milk, and Wheat: Report from a General Hospital without Allergy Specialists in Japan.

An oral food challenge (OFC) is useful for managing food allergies. However, because OFCs have the risk of severe allergic reactions, including anaphylaxis, conducting OFCs under this situation without allergy specialists is difficult. To investigate the safety of a low-dose OFC for eggs, milk, and wheat in a general hospital without allergy specialists. We retrospectively analyzed the medical records of children who were hospitalized in a general hospital without allergy specialists for a low-dose OFC of egg, milk, or wheat between April 2018 and March 2021. The records of 108 patients were evaluated. The median age was 15.8 months (range: 7.5-69.3 months). Challenged foods were eggs (n = 81), milk (n = 23), and wheat (n = 4). Fifty-three (49.0%) patients showed positive allergic reactions. Thirty-five (66.0%) patients showed grade 1 (mild), 18 (34.0%) showed grade 2 (moderate), and none showed grade 3 (severe) reactions. The interventions comprised antihistamines (n = 18), prednisolone (n = 3), inhaled Β2-agonist (n = 2). No patients required adrenaline and no deaths occurred. Low-dose OFCs may be safe in a general hospital without allergy specialists. Conducting a low-dose OFC may be essential in food allergy practice.