Background: We present a case of a Chinese child with one of the largest terminal deletions (21 Mb) of the short arm of chromosome 10 (10p) reported to date. Distal monosomy 10p is a rare chromosomal disorder characterized by intellectual disability, postnatal growth retardation, structural birth defects and dysmorphisms. Mutations in certain 10p regions have been associated with distinct clinical features, but the real weight of each component cannot be estimated in a large deletion like that of our child; therefore, long-term prognosis is difficult to predict precisely, although it certainly foresees a severe impact on the psychomotor development of the child.
Case description: Diagnosis was made in the early neonatal period because of several dysmorphic features and multiple organ involvement. Since the patient's care needs were complex, the Pediatric Palliative Care (PPC) and Pain Service team was involved as a case manager and coordinator from the beginning. In the Veneto region of Italy, our PPC center offers a palliative care approach, through the national health system, embedded with curative-restorative care providing many support activities (such as physiotherapy, physiological support and home assistance) valuable for patients and their families' quality of life. Despite overlap in many characteristics of our child and other children who receive PPC services, the experience of children who have rare genetic conditions and undetermined prognosis with PPC services is still largely unknown. Periodic hospitalization for multidisciplinary follow-up and reassessment of patient's needs were arranged and any rehabilitation program focused on improving her skills was followed. At 5 years of age, her medical condition is controlled and well managed.
Conclusions: This case represents a good example of complex care management by the PPC team, which takes into account the patient's and family's needs enhancing their quality of lives, as reported and underlined by parents themselves. This approach could be considered for other children with rare medical conditions without a definite prognosis.
Keywords: Chromosome 10 deletions; case report; genetics; palliative care.