Adult polyglucosan body disease: an acute presentation leading to unmasking of this rare disorder.

INTRODUCTION: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy caused by abnormal intracellular accumulation of glycogen byproducts. This disorder is linked to a deficiency in glycogen branching enzyme-1 (GBE-1). Neurologic manifestations include upper and lower motor neuron signs, dementia, and peripheral neuropathy. APBD is typically a progressive disease. In this report, we discuss a novel case of APBD in a patient who had a sudden onset of spastic quadriparesis preceded by gradual difficulty with gait. Genetic and postmortem analysis confirmed the diagnosis of APBD. CASE REPORT: A 65-year-old man was evaluated for a new-onset of spastic quadriparesis, right-gaze preference, and left-sided beat nystagmus. Magnetic resonance imaging (MRI) of the brain revealed areas of white matter hyperintensities most prominent in the brainstem and periventricular regions. MRI of the cervical spine showed marked cord atrophy. Laboratory workup and cerebrospinal fluid analysis were unremarkable. Genetic testing supported the diagnosis of APBD due to GBE-1 deficiency. Postmortem analysis showed multiple white matter abnormalities suggestive of a leukodystrophy syndrome, and histopathologic testing revealed abnormal accumulation of polyglucosan bodies in samples from the patient's central nervous system supporting the diagnosis of APBD. CONCLUSION: APBD is a rare disorder that can affect the nervous system. The diagnosis can be confirmed with a combination of genetic testing and pathologic analysis of affected brain tissue.

Facial Diplegia as a Rare Late Neurologic Manifestation of SARS-CoV-2 Infection.

Multiple recent publications have reported numerous neurologic complications of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Among these is Guillain-Barre syndrome and its variants, including facial diplegia. In this case we present a patient with facial diplegia following a confirmed SARS-CoV-2 infection. The patient initially presented with respiratory symptoms and subsequently developed bilateral facial weakness approximately 3 weeks later prompting an emergency department (ED) visit. Extensive laboratory and imaging workup was negative for other etiologies. Cerebrospinal fluid (CSF) analysis was notable only for mild elevation in white blood cells and protein. Patients with acute neurologic symptoms should be evaluated carefully regarding recent infections or possible exposures to help identify and minimize late complications of this novel virus.

Periodic focal epileptiform discharges.

OBJECTIVE: To report intraoperative periodic focal epileptiform discharges (PFEDs) during awake craniotomy using high-density electrocorticography (HD-ECoG). METHODS: We retrospectively analyzed 81 patients undergoing awake craniotomy between 9/29/2016 and 7/5/2018. Intraoperative HD-ECoG was performed with direct electrocortical stimulation (DECS) for functional brain mapping. Real-time interpretation was performed and compared to scalp EEG when performed. Perioperative seizures, surgical complications, and characteristics of PFEDs were assessed. RESULTS: 69/81 patients (mean age 48.5 years) underwent awake surgery; 55 operated for brain tumor, 11 for epilepsy and 3 for cavernomas. A focal abnormality on brain MRI was present in 63/69 (91.3%) patients. 43/69 (62.3%) patients had seizures preoperatively, 4/69 (5.7%) had seizures during DECS. PFEDs were identified in 11 patients (15.9%); 2 on depth recording and 9 during intraoperative HD-ECoG. 32 patients (46.3%) had preoperative EEG. HD-ECoG detected more epileptiform discharges (EDs) than standard EEG (32/43; 74.4% vs 9/32; 28.1%) (p = <0.001). Of 9/43 patients with PFEDs on HD-ECoG, 7 patients also had scalp EEG but only one case had EDs (p = 0.02), and 0/32 had periodic EDs. CONCLUSIONS: Intraoperative PFEDs are novel, highly focal EDs approximating a single gyrus. In patients with brain tumors, PFEDs did not demonstrate a relationship to pre-operative seizures though has similarities to other common waveforms in patients with epilepsy. SIGNIFICANCE: PFEDs expand our understanding of the interictal-ictal continuum and highlight improved temporo-spatial information obtained from increasing sensor density during intracranial EEG recording.

Outcome and predictive factors in post-stroke seizures: A retrospective case-control study.

PURPOSE: To evaluate clinical, radiographic, and electrophysiological features in the development and prognosis of ischemic post-stroke seizures (PSS). METHOD: A retrospective study of 1119 patient records was performed between January 2006 and December 2016. After selection, 42 patients with seizures due to ischemic stroke were matched to a control group of 60 patients where seizures were absent. Stroke size and severity were analyzed using ASPECTS and NIHSS, respectively. Hemorrhagic transformation graded by ECASS III classification. Outcomes were assessed using the modified Rankin Scale. Fisher's exact test assessed categorical variables, and Mann-Whitney tested continuous variables. RESULTS: Forty-two patients experienced PSS (22 females; median age 72.5 years) and were matched with 60 control subjects that had ischemic stroke without seizures. Focal seizures were present in 42.9% (18/42), and focal to bilateral convulsions in 57.1% (24/42). Stroke localization and severity did not differ (p = 0.6 and 0.21, respectively). Stroke size in anterior circulation was larger in PSS patients (median ASPECTS 6 vs 8 [p = 0.01]). Posterior circulation stroke size was similar in both groups. The presence of hemorrhage was the primary risk factor for PSS (61.9%) compared to controls (36.7%), p = 0.01. The presence of laminar necrosis (LN) (47.6% vs 21.6%, p = 0.005) and hemosiderin deposition (38.1% vs 18.3%, p = 0.02) were most predictive. PSS patients demonstrated worse outcomes than the controls (median mRS 3 vs 2, [p=<0.001]) with a median follow up of 14.8 and 20.7 months, respectively. CONCLUSIONS: The size of anterior infarction, presence of blood products within the infarct bed, and especially LN predicted PSS.