KL Wong, WKY Chan, KL Siu

Abstract

Introduction: Matthew Wood syndrome (MWS) is a rare entity in which the two main characteristics include anophthalmia and pulmonary hypoplasia. Other problems such as diaphragmatic eventration, duodenal stenosis, pancreatic malformations, intellectual disability, cardiovascular abnormalities, and intrauterine growth retardation have also been reported. Case: We report a five-year-old boy who had MWS diagnosed in the neonatal period presenting with bilateral microphthalmia, bilateral pulmonary hypoplasia, diaphragmatic eventuation, and congenital cardiac defects. Misalignment between the light-dark cycle and the endogenous circadian timing causes circadian rhythm sleep disorder (CRSD) – non-entrained type. With non-entrained type CRSD, MWS patients might be somnolent during the day while insomnia is experienced at night. Sleep disturbances have a great impact on the quality of life of this group of patients and limit their opportunity of training in the daytime. On the ground that they have visual impairment, cognitive delay and craniofacial dysmorphism, numerous difficulties are encountered during the initiation of non-invasive ventilation. We did not target a perfectly normal blood gas reading as the treatment goal, rather a balance on optimal ventilatory support against safety and patient's comfort are of a pivotal importance. Conclusion: CRSD in the group of MWS patients and constraint on optimising ventilatory support were important issues in their long-term care.