Alpha Thalassemia X-Linked Intellectual Disability Syndrome in an Infant with Developmental Delay and DYS Recurrent Respiratory Failure Confirmed by Whole-Exome Sequencing

2022 Neonatology Today  
A 13-month old boy with global developmental delay and dysmorphic features was admitted for increased work of breathing. He was born at 37 weeks gestation to a mother, G2P2, via emergency C-section for partial abruptio placentae. Other prenatal history was noncontributory. Maternal prenatal labs were negative. The prenatal US was normal. Mother had gestational diabetes that was controlled. She endorsed difficulty conceiving but denied miscarriage. He was admitted to the NICU for one week at an
more » ... utside hospital due to respiratory difficulty requiring HFNC and feeding difficulties. At six months of age, he had developmental delay and hypotonia. He was referred for a developmental assessment, but his mother did not follow up. During this admission, his problems included esotropia, gastroesophageal reflux, dysphagia to thin liquids, malnutrition, left undescended testis and left inguinal hernia, microcytic anemia, and chronic constipation. A genetics consultation was requested. Following his discharge, he has three more hospitalizations for acute respiratory failure due to viral illness, requiring PICU admission and intubation on one of those occasions.
doi:10.51362/ fatcat:sbbgwidbnbhg5glocbtezz3zom