RESUMO
Failure to thrive (FTT) refers to a condition where a child does not gain weight or grow at the expected rate for their age and gender. An accepted definition includes a weight less than the lowest acceptable range on standardized growth charts. FTT is often a diagnostic challenge for providers treating children with mixed etiologies. This report discusses the case of an 11-year-old female with a diagnosis of Crohn's disease and avoidant and restrictive food intake disorder (ARFID). Management by an interprofessional healthcare team has been difficult, given the multifactorial nature of the patient's weight loss. This report suggests that behavioral and psychological aspects, such as aversion to eating and reluctance to experiment with different foods, may align with symptoms of Crohn's disease in children. It also emphasizes the importance of timely diagnosis and appropriate interventions, as they can mitigate psychological and developmental setbacks.
RESUMO
Ehlers-Danlos syndrome (EDS) is a collection of genetic disorders caused by abnormalities in collagen and typified by hyperflexible joints, hyperextensible skin, and a tendency for easy bruising and tissue injuries. Hypermobile Ehlers-Danlos syndrome (hEDS), the most common subtype, presents a diagnostic challenge due to the lack of specific genetic markers. This case report describes a 13-year-old girl with hEDS, presenting with hypermobility, thoracolumbar scoliosis, constipation, glucosuria, microscopic hematuria, urticaria, and intermittent episodes of bilateral hand and feet swelling. Genetic testing revealed a variant of uncertain significance in the COL9A2 gene. An echocardiogram showed a mildly dilated aortic root. The complexity of her presentation underscores the challenges in diagnosing and managing hEDS with multisystem involvement.