Zayat, Roaa

Abstract Background Prion diseases are universally fatal causes of rapid progressive dementia owing to the formation and spread of prions throughout the brain. Palliative care focuses on improving quality of life for patients with serious or advanced medical conditions. Timely access to palliative care is central to the care of patients with prion disease and other progressive neurodegenerative diseases. We sought to evaluate palliative care utilization and mode of delivery in patients with prion disease. Method Clinical data were extracted from the electronic medical records of patients with definite or probable prion disease diagnosed and managed across the Mayo Clinic Enterprise from January 2012 to August 2023. We systematically evaluated the frequency of symptoms and signs likely to benefit from palliative care and considered the relationship between these features and palliative care resource utilization, method of delivery, and outcomes. Result 172 patients with symptomatic prion disease were identified. 165 (94.8%) patients experienced ≥1 symptom/sign likely to benefit from palliative care, yet only 113 (65.7%) patients accessed palliative care resources during the illness course (hospice care: 39.7%; palliative care consultation: 14.9% inpatient, 6.9% outpatient; both: 3.4%). Lack of referral by the diagnosing clinician was the most common reason (55.9%) patients did not receive palliative care services. Early and predominant language dysfunction, behavioral changes, constipation, and emergency department visits or hospital admissions were independently associated with greater odds of referral for palliative care services. Goals of care (i.e., living environment, nutritional and hospitalization plans) and advanced care plans (i.e., healthcare surrogates, living will, code status, hospice) were more likely to be documented in patients receiving palliative care consultations (88.6% and 93.2%, respectively) versus hospice care alone (7.8% and 14.5%, respectively; p <0.001). Conclusion More than a third of patients with prion disease did not receive palliative care resources despite a high prevalence of symptoms/signs likely to benefit from palliative care. These findings highlight an opportunity to enhance the care of patients with prion disease by promoting early access to palliative care resources that may support symptom management, enhance caregiver support, and reinforce patient autonomy by clarifying goals of care and advance care planning.

Introduction: Migraine with aura may be the earliest symptom in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Female patients have a higher incidence of migraine with an increased associated disability. In this study, we systematically evaluate the clinical features and management of migraine in female patients with CADASIL in a multi-center health system. Methods: Clinical data was extracted from the electronic medical records of female patients diagnosed with CADASIL and managed at Mayo Clinic Enterprise. Diagnosis was confirmed by a pathogenic NOTCH3 mutation or granular osmiophilic material on skin biopsy. Results: Forty-three female patients with CADASIL were identified. Twenty-two patients (51.2%) had a diagnosis of migraine with aura and eight patients (18.6%) had a diagnosis of migraine without aura. The most common type of aura was visual (81.8%). Nineteen patients (63.3%) required at least one acute medicine and/or one preventive medicine. Acute therapy helped in 18 cases (94.7%) and preventive therapy helped in 13 cases (68.4%). Six patients (20%) tried at least three forms of acute therapy, and eleven patients (36.7%) tried at least three forms of preventive therapy. The presence of visual aura was associated with higher likelihood of need for acute therapy (OR = 3.0, 95% CI = 1.6 - 5.8, P = 0.015). However, the presence of any type of aura was associated with lower likelihood of need for or resistance to preventive therapy (OR = 0.08, 95% CI = 0.01 - 0.57, P = 0.005). Also, headache onset after age of 45 years was associated with higher likelihood of need for or resistance to preventive therapy (OR = 38.0, 95% CI = 2.7 - 528.0, P <0.001). The most common acute therapy was nonsteroidal anti-inflammatory drugs (NSAIDs) (14, 73.7%). Classes of preventive therapy involved anticonvulsants (15, 78.9%), antidepressants (11, 57.9%), Botox injections (7, 36.8%), beta blockers (6, 31.6%), calcium channel blockers (3, 15.8%), and calcitonin gene-related peptide (CGRP) inhibitors (3, 15.8%). Conclusion: Half of female patients with CADASIL had a diagnosis of migraine with aura. Around two thirds of them tried at least one form of acute therapy, most commonly NSAIDs, or preventive therapy, most commonly anticonvulsants. Resistance to preventive therapy was seen in more than 30% of the cases, highlighting the need for advances in migraine management in CADASIL.

Background The majority of patients with spontaneous intracranial hypotension (SIH) are symptomatic. Some patients are discovered incidentally. The proportion of asymptomatic SIH has never been defined. This article reports our institution’s rate of asymptomatic cases among all of our patients with high/intermediate Bern scores on brain MRI, etiology of leak in asymptomatic cases, complications of asymptomatic leaks, and evolution of imaging before and after treatment. Methods We retrospectively analyzed data from the Cerebrospinal Fluid (CSF) Dynamics clinic spanning September 2020 to July 2023. Bern score was calculated from all available brain MRIs in patients with confirmed leaks. Patients with iatrogenic leaks or no brain MRI were excluded. The charts of asymptomatic patients were reviewed to obtain MRI indications, SIH progression, complications, leak type, and treatment outcomes. Results Some 8.6% (7/81) patients with high/intermediate Bern scores were asymptomatic at the time of imaging. Two patients declined myelography. Four of seven asymptomatic patients were found to have CSF-venous fistulas and underwent embolization with radiographic improvement. Complications of asymptomatic leaks in this population included subdural hematoma and superficial siderosis. Conclusions Asymptomatic but clearly present spinal CSF leaks were not uncommon in our group. These results highlight the possibility of a presymptomatic phase in patients with CSF leaks. In our sample, myelography was readily positive for etiology of the leak, and leaks promptly responded to targeted treatment.

Key Clinical MessageEctopic pituitary adenoma is a rare neoplasm located in the clivus and could mimic other clival tumors. Diagnosis and treatment could be challenging. It should be considered in the differential diagnosis of clival tumors.AbstractEctopic pituitary adenomas (EPAs) are isolated adenomas that can be located in variable locations outside the sella turcica and have a normal‐appearing pituitary gland. These tumors are rare and are thought to often arise from embryological remnants along the route of Rathke's pouch migration. EPAs are associated with a wide range of clinical manifestations depending on hormonal activity and involvement of adjacent structures, which can represent a challenge in making the diagnosis and deciding on the most appropriate management. In this case study, we report a 47‐year‐old male who presented with visual disturbances, a headache, and generalized weakness. Magnetic resonance imaging showed a 2 cm mass located in the clivus invading the sphenoid sinus with an intact pituitary gland. The patient underwent endoscopic transsphenoidal surgery to eradicate the mass while maintaining the integrity of the pituitary gland, which was successful and uneventful. Pathological studies were consistent with prolactinoma, with no cytological malignant features. Post‐surgery, symptoms notably improved, and serum prolactin levels significantly dropped, The patient's condition was satisfactory on follow‐up with no long‐term complications reported. This paper contributes to the existing literature by sharing the clinical management of a challenging and uncommon case.