Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome.

Background: Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder associated with multiple musculoskeletal anomalies, including cervical spine instability. We sought to examine the nature of imaging for cervical spine instability in children with LDS due to likely pathogenic or pathogenic variants in TGFBR1, TGFBR2, TGFB2, SMAD3, or TGFB3. Methods: A retrospective chart review was conducted, examining relevant data for all children with LDS screened at our institution from 2004 through 2021. Cervical spine X-rays were used to assess cervical instability, cervical lordosis, and basilar impression. Results: A total of 39 patients were identified; 16 underwent cervical spine screening (56.25% male). Median age at initial screening was 7 years (Q1-Q3: 3.75-14, range: 0.1-19). Six of 16 patients evaluated (37.5%) had radiographical evidence of cervical instability. Mean angles of cervical lordosis were 20° (SD = 14.1°, range = 4°-33°) and 17.3° (SD = 16.4°, range = 2°-41°), respectively. Three patients demonstrated radiographical basilar impression. Radiographic progression of cervical instability was seen in one case. All but two were managed conservatively with observation, one patient underwent surgical fixation and fusion of C1-2, the other underwent complex cervical reconstruction anterior and posterior instrumentation. Conclusion: Cervical spine evaluation is important in this cohort; we identified 37.5% had evidence of cervical spine instability, and many had concurrent spinal pathology. From our experience, we agree with the recent advisement for screening at diagnosis and for those previously diagnosed that have not undergone screening. Future study may outline more specific screening practices.

Cerebellitis as a neurosurgical disease in pediatrics.

The diagnostic evaluation and role of neurosurgery in the treatment of cerebellitis is unclear. We explore the diagnostic evaluation and subsequent role of neurosurgical intervention in pediatric cerebellitis in a case series, highlighting the diagnostic work up and treatments applied. A retrospective review was conducted of all pediatricpatients diagnosed with cerebellitis for whom neurosurgery was consulted at a single center from June 2008 to February 2019. Nine patients, four males (44.4%) and five females (55.6%) were identified. Common presenting symptoms were headache (n = 6, 66.7%), emesis (n = 5, 55.6%), and altered mental status (n = 4, 44.4%). Six (66.7%) had associated infections. Imaging abnormalities included tonsillar ectopia (n = 8, 88.9%), bilateral cerebellar T2 hyperintensity (n = 6, 66.7%), and obstructive hydrocephalus (n = 6, 66.7%). Management included antibiotics, antivirals, corticosteroids, mannitol, and hypertonic saline. Four (44.4%) required external ventricular drain (EVD) placement for a mean 11 days (SD 6.8, range 4-20) for hydrocephalus; none required additional neurosurgical interventions. Seven patients (77.8%) required ICU care for a mean 11.7 days (SD 14.0 range 1-42). At follow-up (mean 20.8 months, SD 28.7, range 0.6-64.9), two patients (n = 2, 22.2%) recovered completely, and six (66.7%) were functionally dependent (mRS > 2); the most common residual deficit was cognitive impairment (n = 5, 55.6%). Neurosurgical consultation should be considered in pediatric patients with cerebellitis. In our experience, temporary CSF diversion via an EVD is employed nearly half of the time. The presence of hydrocephalus requiring neurosurgical intervention may be a predictor of severe disease and poor outcome.

Endoscopic ultrasonic aspiration of an intraparenchymal hematoma in a newborn.

Neonatal intracerebral hemorrhage is associated with substantial morbidity and mortality. Treatment is largely conservative, though interventions to evacuate intraventricular and intraparenchymal hematomas (IPHs) have been applied. Endoscopic ultrasonic aspiration for the treatment of IPH has increasingly been shown to be a useful strategy in adults; however, it has not been studied in children, and the technology has been more commonly applied to intraventricular hemorrhage (IVH). Here, the authors describe, to the best of their knowledge, the first use of endoscopic ultrasonic aspiration for IPH in a newborn.An 8-week-old female presented with IPH secondary to left M3 aneurysm rupture, which was treated with coil embolization for aneurysm securement and vessel sacrifice, followed by IPH evacuation using endoscopic ultrasonic aspiration. Through applying this approach in a newborn, the authors gained technical insight not previously reported in the application of this technique in similar cases in adults or in cases of IVH. They highlight this case to share learning points and technical challenges regarding the application of endoscopic ultrasonic aspiration in a newborn along with learning points for imaging and visualization. Endoscopic ultrasonic aspiration can be used to treat IPH in select newborns. Further study is needed to improve efficacy and ease when applying this approach in very young patients.

Trigeminal schwannoma presenting with malocclusion: A case report and review of the literature.

BACKGROUND: Trigeminal schwannomas are rare tumors of the trigeminal nerve. Depending on the location, from which they arise along the trigeminal nerve, these tumors can present with a variety of symptoms that include, but are not limited to, changes in facial sensation, weakness of the masticatory muscles, and facial pain. CASE DESCRIPTION: We present a case of a 16-year-old boy with an atypical presentation of a large trigeminal schwannoma: painless malocclusion and unilateral masticatory weakness. This case is the first documented instance; to the best of our knowledge, in which a trigeminal schwannoma has led to underbite malocclusion; it is the 19th documented case of unilateral trigeminal motor neuropathy of any etiology. We discuss this case as a unique presentation of this pathology, and the relevant anatomy implicated in clinical examination aid in further understanding trigeminal nerve pathology. CONCLUSION: We believe our patient's underbite malocclusion occurred secondary to his trigeminal schwannoma, resulting in associated atrophy and weakness of the muscles innervated by the mandibular branch of the trigeminal nerve. Furthermore, understanding the trigeminal nerve anatomy is crucial in localizing lesions of the trigeminal nerve.

Diagnostic Dilemma: Cerebellopontine Angle Lipoma Versus Dermoid Cyst.

Both lipomas and dermoid cysts of the cerebellopontine angle are rare tumors. These tumors differ in their embryological origin but share similar features on imaging. Both of these congenital lesions can be found in the cerebellopontine angle (CPA), and symptomatic clinical presentation is dictated by the location of the lesion. This paper demonstrates a unique case in which a CPA lipoma was misidentified as a dermoid cyst, leading to surgical intervention. Further, the paper provides a literature review of CPA lipomas and dermoid cysts to aid readers in further differentiating between these two unique tumors.