新生児期より早期リハビリテーション治療を行ったWolf-Hirschhorn 症候群の1症例

抄録

Wolf-Hirschhorn syndrome is a chromosomal aberration caused by a deletion of the distal short arm of chromosome 4, characterized by distinct craniofacial features, failure to thrive, psychomotor developmental retardation, epilepsy, and feeding disorders. We report a case of patient with Wolf-Hirschhorn syndrome who underwent interventional rehabilitation commencing from the neonatal period in the neonatal intensive care unit. The patient was born at gestational age of 38 weeks 0 days, weighing 1583 g, with an Apgar score of 4/9, and was diagnosed with partial monosomy of the short arm of chromosome 4. Postnatal inspiratory stridor exacerbation was noted for which high-flow nasal cannula therapy was initiated. Rehabilitation commenced on the 18th day after the infant's birth, to promote sensorimotor development. Initially, the trunk was in a low muscle tension and unstable state. Therefore, we first prescribed rest followed by sensorimotor rehabilitation. When the infant's clinical condition stabilized, we performed prone and anti-gravity hugging exercises to improve the low trunk tension. Breastfeeding evaluation began 56 days after birth, when the respiratory condition improved. We practiced feeding the infant orally, in collaboration with doctors and nurses, to reduce bending and stabilize the posture when raising the mandible. The infant was gradually able to feed orally and gained weight. Thereafter, he was discharged 141 days after birth. This report concluded that rehabilitation intervention from the neonatal period, in collaboration with the multidisciplinary team and patient's family, contributed to initiation of oral feeding, improvement of sensorimotor development, and smooth transition to home care.