Multisystem Involvement in a Pediatric Patient With Hypermobile Ehlers-Danlos Syndrome: A Case Report of the Diagnostic Complexity and Management Challenges.

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.

Cervical MRI assessment of traumatic anterior atlanto-occipital membrane complex injuries with evaluation of ancillary findings.

BACKGROUND AND PURPOSE: The purpose of this study was to identify and classify the different types of anterior atlanto-occipital membrane complex injuries on MRI and evaluate for the presence, size, and location of a prevertebral effusion on the preceding CT exams. MATERIALS AND METHODS: Patients who suffered an anterior atlanto-occipital membrane complex injury were identified retrospectively utilizing Nuance mPower software. An anatomic-based description of the location of the anterior atlanto-occipital membrane complex injury was recorded along with any additional osteoligamentous trauma of the craniocervical junction. The preceding cervical CT exams for these patients were reviewed for the presence and location of a prevertebral effusion. RESULTS: Fifty patients were identified with an acute, post-traumatic anterior atlanto-occipital membrane complex injury. Three distinct patterns of anterior atlanto-occipital membrane complex injury were observed. Nineteen patients demonstrated increased STIR signal with disruption of the anterior atlanto-occipital membrane, ten patients demonstrated increased STIR signal with disruption of the anterior atlanto-axial membrane, and twenty-one patients demonstrated increased STIR signal with disruption of both the anterior atlanto-occipital membrane and anterior atlanto-axial membrane. An effusion at the C1-C2 level was present in greater than 90% of patients with anterior atlanto-occipital membrane complex injury. CONCLUSIONS: The presence of a craniocervical prevertebral effusion on CT in trauma patients may raise suspicion for an injury to the anterior atlanto-occipital membrane complex and potentially trigger additional investigation with cervical MRI.