Progressive vascular tumor in infant: A case report and literature review of PIK3CA vascular malformation.

PURPOSE: Vascular anomalies are classified as either vascular tumors or vascular malformations. Vascular malformations can be difficult to diagnose and treat in the pediatric population and can masquerade as malignant processes. Understanding the genetics behind vascular malformations can lead to identification of specific mutations which can be treated with targeted immunotherapy. METHODS: Our case presents a pediatric patient with progressively enlarging vascular malformation despite multiple surgical resections and systemic medical treatments who underwent genetic evaluation and was found to have PIK3CA mutation. RESULTS: After identification of PIK3CA mutation, our patient was successfully treated with the p110ɑ-specific inhibitor, alpelisib, with both shrinkage of malformation on follow-up imaging as well as gains in her developmental milestones. CONCLUSION: Progressive vascular malformations in the pediatric population can be hard to diagnose and treat and are thought to arise from somatic mutations. Our case highlights a patient with progressive malformation despite multiple surgical resections who was successfully treated with targeted immunotherapy after proper identification of genetic mutation.

Practice Variations in Managing Infantile Hemangiomas.

Infantile hemangioma (IH) is the most common benign tumor of infancy. For children with IH who require treatment, propranolol and other beta blockers have been shown to be safe and effective. Although consensus guidelines for managing IH have been published, anecdotal experience suggests that there remain variations in management. This study was performed to document these variations amongst providers and to identify areas for future research. We conducted an Internet-based survey of clinicians who treat patients with IH. Hypothetical cases and management scenarios were presented. Twenty-nine respondents participated in the survey. Most respondents use generic propranolol in infants with growing IH of the head and neck, with a goal dose of 2 mg/kg/d, until ~1 year of age. A variety of management strategies were documented including which patients should be treated, optimal dose and duration of therapy, how patients should be monitored, which patients should get additional workup, how propranolol should best be discontinued, and how often to see patients in follow-up. This study demonstrates wide practice variations in managing patients with IH. Further research is indicated to address these variations and develop additional/updated evidence-based guidelines.

A confounding pediatric spinal cord injury: Anterior, central, or both?

Pediatric spinal cord injury (SCI) most commonly affects the cervical region. Central cord syndrome most often occurs in the lower cervical injury due to hyperextension injury, while anterior cord syndrome is primarily due to vascular infarction after hyperextension injury. An unusual case of a pediatric patient who physically presented with central cord syndrome but radiologically had evidence of anterior spinal artery syndrome is described. A two-year-old male presented after a fall from three feet with flaccid upper extremities and dysesthesias but maintained functional strength in bilateral lower extremities. Although his clinical presentation was that of central cord syndrome, he was found to have an anterior spinal artery infarct spanning from C2-T3 with a ligamentous injury at C3 and an incidental finding of Chiari I malformation on MRI. Given the negative evaluation for a cardiac or hematologic source of embolus and normal angiography, it was theorized that compression of vertebral arteries by previously undiagnosed Chiari I malformation in the setting of trauma could have made the patient more vulnerable to this complication. During inpatient rehabilitation, he regained scapular movement and shoulder flexion. However, he regained distal movement in supination, wrist extension, and finger flexion instead of the more usual proximal-to-distal motor recovery observed in SCI. While he had a relative sparing of strength in his legs, he had impaired proprioception and balance, leading to gait impairment. This case highlights the complexity of pediatric cervical SCI diagnosis and prognostication. While classic SCI subtypes are well described, many pediatric and adult patients will present and recover in unexpected ways. All with SCI should be evaluated thoroughly for common etiologies and transitioned to rehabilitation therapies to assist in recovery.