Obstructive Sleep Apnea in an Infant with Suspected Congenital Leptin Hormone Receptor Deficiency

An 8-month-old female child, born of a consanguineous marriage, presented to the Paediatrics department, with complaints of excessive weight gain, frequent night-time arousals and decreased sleep. Her elder female sibling died at 18 months of age due to respiratory failure caused by obesity secondary to congenital leptin hormone deficiency. She was referred to the Pulmonary medicine department for level I polysomnography (PSG), which was suggestive of Severe OSA. The mask for the titration study was customised by manually creating exhalation ports in a conventional infant nasal mask. The recommended CPAP pressure was 4.5 cm of H₂O in the lateral position.

Obesity is an important cause of OSA in infants and mutation in the Leptin receptor gene (LEPR) is a cause of early-onset obesity. The evaluation of a suspected case should be thorough with a detailed clinical history and physical examination. Patients should be evaluated with a level I PSG.