The Impact of Cervical Spinal Disease on Pharyngeal Swallowing Function.

PURPOSE: Spinal pathology is very common with advancing age and can cause dysphagia; however, it is unclear how frequently these pathologies affect swallowing function. This study evaluates how cervical spinal pathology may impact swallowing function in dysphagic individuals observed during videofluoroscopic swallowing studies (VFSSs). METHOD: A retrospective case-control study was performed on 100 individuals with dysphagia as well as age-/gender-matched healthy controls (HCs) with available VFSS. Spinal anatomy of patients was classified into two predetermined categories, and a consensus decision of whether spinal pathology influenced swallowing physiology was made. Validated swallow metrics, including Modified Barium Swallow Impairment Profile (MBSImP) component scores, Penetration-Aspiration Scale (PAS) maximum scores, and 10-item Eating Assessment Tool (EAT-10) scores, were compared between the spine-associated dysphagia (SAD), non-SAD (NSAD), and HC groups using Kruskal-Wallis one-way analysis of variance. RESULTS: Most patients with dysphagia had spinal pathology. Spinal pathology was judged to be the primary etiology of dysphagia in 16.9% of patients with abnormal spine pathology. Median EAT-10 scores were statistically different among the three groups, with the NSAD group scoring the highest and the HC group scoring the lowest. Similarly, median PAS scores were significantly different between dysphagic groups and HCs. Median MBSImP Oral Total scores were significantly different only between the NSAD group and HCs, whereas Pharyngeal Total score was not significantly different among the groups. CONCLUSIONS: Spinal pathology is commonly observed during VFSS and can contribute to dysphagia, resulting in worse swallowing-related outcomes when compared with HCs. Patients judged to have SAD tended to have better outcomes than patients with dysphagia from other etiologies, perhaps due to the progressive nature of spinal disease that allows for compensatory swallowing physiology over time.

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

Vacuolar H+-ATPase-dependent (V-ATPase-dependent) functions are critical for neural proteostasis and are involved in neurodegeneration and brain tumorigenesis. We identified a patient with fulminant neurodegeneration of the developing brain carrying a de novo splice site variant in ATP6AP2 encoding an accessory protein of the V-ATPase. Functional studies of induced pluripotent stem cell-derived (iPSC-derived) neurons from this patient revealed reduced spontaneous activity and severe deficiency in lysosomal acidification and protein degradation leading to neuronal cell death. These deficiencies could be rescued by expression of full-length ATP6AP2. Conditional deletion of Atp6ap2 in developing mouse brain impaired V-ATPase-dependent functions, causing impaired neural stem cell self-renewal, premature neuronal differentiation, and apoptosis resulting in degeneration of nearly the entire cortex. In vitro studies revealed that ATP6AP2 deficiency decreases V-ATPase membrane assembly and increases endosomal-lysosomal fusion. We conclude that ATP6AP2 is a key mediator of V-ATPase-dependent signaling and protein degradation in the developing human central nervous system.

Sulcal FLAIR hyperintensity after CSF removal in two patients with intracranial hypertension.

Sulcal hyperintensity on fluid-attenuated inversion recovery (FLAIR) sequence is a frequently encountered finding that could be due to an abnormality of cerebrospinal fluid, a secondary finding related to an intracranial pathologic process, or be artifactual or iatrogenic. Here we present two cases of sulcal FLAIR hyperintensity in the setting of intracranial hypotension after CSF removal for intracranial hypertension.

LIS1 duplication: expanding the phenotype.

Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. We report a partial LIS1 duplication in a child with microcephaly, neurodevelopmental delays, and profound white matter atrophy in the absence of overt lissencephaly. The duplicated genetic segment was contained entirely within the first intron of LIS1, a segment that often contains inducers of transcription. Normal gyral patterns with mild volume loss were observed at birth. Follow-up cranial imaging revealed further white matter loss, diminished sulcation, and ventriculomegaly, suggesting expanding hydrocephalus ex vacuo. The radiographic pattern has not been documented in the presence of a LIS1 gene abnormality, and suggests that altered expression of LIS1 has wider phenotypic manifestations than currently defined.

Meningovascular syphilis with fatal vertebrobasilar occlusion.

We report the case of a young patient with meningovascular syphilis who suffered fatal vertebrobasilar occlusion despite thrombolytic treatment and endovascular interventions. A 35-year-old man without any known medical history presented with an acute ischemic stroke and was initially treated with intravenous tissue plasminogen activator. He was then transferred to the stroke center, where he underwent endovascular recanalization of his occluded vertebrobasilar system. Despite initial successful recanalization, he suffered recurrent vertebrobasilar occlusion, and a second endovascular treatment attempt was unsuccessful. He subsequently developed a pontine hemorrhage and acute hydrocephalus and died secondary to transtentorial herniation. Laboratory findings were suggestive of prior spirochetal infection, and autopsy revealed necrotizing vasculitis and extensive adventitial inflammation involving the basilar and vertebral arteries, supporting the diagnosis of meningovascular syphilis.

Ascending and plunging ranula in a pediatric patient.

A plunging ranula is a rare phenomenon that represents mucous extravasation extending through or behind the mylohyoid. The mucous dissects the tissue planes inferiorly and usually manifests as a swelling in the submental or submandibular regions. Some plunging ranulas are believed to result from disruption of excretory ducts that originate from the sublingual gland. The currently accepted definitive treatment of a plunging ranula is resection of the ipsilateral sublingual gland and evacuation of the cyst with removal of the pseudocapsule. There have been no reported cases of "ascending" ranulas into the parapharyngeal or pterygomaxillary space. The following represents the first known case that involved an extensive ascending and plunging ranula in a pediatric patient, which recurred despite complete excision of the ranula and sublingual gland. IRB approval was not required per institutional policy on retrospective case reports.

CT and MR imaging after placement of the GliaSite radiation therapy system to treat brain tumor: initial experience.

BACKGROUND AND PURPOSE: The GliaSite system delivers local, high radiation after brain tumor resection. We describe the imaging appearance of the device and the changes it causes. METHODS: Eight patients with brain tumors were treated with this system. After surgery, all underwent MR imaging, and one underwent CT. Five were examined 1 month after radioactive unloading and every 2 months thereafter (total, 6-9 months). Initial studies were assessed for balloon appearance and complications; subsequent studies, for signal intensity and enhancement. Three patients underwent multivoxel proton MR spectroscopy, and one underwent MR perfusion study. Spectra were reviewed for metabolites suggesting tumor; perfusion studies were reviewed for increased relative cerebral blood volume and flow. RESULTS: CT showed the hyperattenuating balloon with considerable artifact. All MR images showed the device and adjacent brain. Follow-up studies showed enhancement and T2 hyperintensity in five patients. In one, enhancement progressively disappeared with no evidence of tumor recurrence. Another patient had progressive enhancement and low relative cerebral blood volume and flow; biopsy showed necrosis and inflammation. One patient had progressive enhancement and high choline levels (proved anaplastic astrocytoma). In another, T2 signal intensity and contrast enhancement progressed owing to tumor and bacterial infection. The last patient had a high choline level (proved radionecrosis); enhancement progressed over 5 months. In three, the device was removed early because of bleeding, mass effect, and therapeutic changes (no follow-up). CONCLUSION: Good balloon visualization was possible with MR imaging. After brachytherapy, all patients developed T2 hyperintensity; stable or progressive enhancement occurred with tumor recurrence and radionecrosis. High choline levels were suggestive of, but not necessarily diagnostic of, tumor.