1120 - Inpatient Rehabilitation in a Child with Kagami Ogata Syndrome

Case Diagnosis: Kagami Ogata Syndrome

Case Description: The patient is a 5-month-old male with a history of Kagami Ogata Syndrome (KOS), chronic respiratory insufficiency, and G-tube dependence who was admitted to acute care for respiratory failure secondary to viral illness. He required sedation and intubation on initial presentation and was subsequently weaned to CPAP before discharge to an acute inpatient rehabilitation facility. Physical examination was significant for hypotonia, left sided cervical dystonia, rectus diathesis, micrognathia, and a shortened neck. He showed improvements in range of motion, head control, and trunk balance after two weeks of multidisciplinary therapy. His respiratory status remained stable with NCPAP. Tracheostomy placement was considered to for safe discharge to a residential facility. However, ENT determined he was not an appropriate candidate due to anatomical limitations.

Discussions: Kagami Ogata Syndrome (KOS) is a genetic disorder with a prevalence of less than 1 in 1,000,000, associated with dysgenesis of chromosome 14. There are less than 100 reported cases. Clinical features include facial dysmorphism, pathognomonic thoracic cage defects resulting in a coat-hanger appearance of the ribs, abdominal wall defects, developmental delay, feeding difficulty, and respiratory complications. Management is characterized by tracheostomy, mechanical ventilation and tube feeding in infancy, which are typically discontinued later in life. The current case highlights how anatomic variations unique to KOS complicate supportive interventions and hinder safe discharge disposition following hospitalization.

Conclusions: KOS is a rare genetic disorder resulting in a constellation of anatomical abnormalities. Thoracic cage abnormalities are a defining feature, resulting in chronic respiratory insufficiency. Many patients require tracheostomy placement and mechanical ventilation in infancy. Decannulation is typical later in childhood. Although respiratory complications are the leading cause of mortality in this population, deaths after the age of 4 are infrequent. Therefore, early diagnosis, multidisciplinary intervention, and palliative care are crucial to improving lifespan and quality of life.