Atypical Presentation of a Pediatric Cerebellar Ganglioglioma.

BACKGROUND/AIMS: Gangliogliomas (GGs) are rare central nervous system tumors occurring primarily in the supratentorial compartment with infratentorial instances most often involving the brain stem. Infratentorial GGs typically present with signs and symptoms of increased intracranial pressure (ICP), cranial nerve deficits, or focal cerebellar findings; rarely, these tumors have been associated with focal seizures. METHODS: In this report, we describe an atypical presentation of a cerebellar GG in a 20-month-old male who initially presented with syncope and emesis in the absence of electrographic evidence of seizures, radiographic evidence of hydrocephalus, or elevated ICP. The epidemiology, radiographic, and pathological findings as well as the treatment of these tumors are also discussed. RESULTS: After gross total resection, the patient experienced full resolution of all his preoperative symptoms without the development of new neurological deficits. CONCLUSIONS: Unlike their supratentorial counterparts, infratentorial GGs do not commonly present with seizures although rare reports exist in the literature of seizures attributed to cerebellar GG. Moreover, cerebellar GGs may produce nonspecific symptoms in the absence of concrete diagnostic findings. Such a presentation should prompt further neurological evaluation. Most cases of isolated cerebellar GG can be successfully treated with surgical resection and carry a favorable prognosis.

Ischemic and Hemorrhagic Strokes due to Eosinophilic Granulomatosis with Polyangiitis.

BACKGROUND: We report a case of ischemic and hemorrhagic strokes occurring almost simultaneously in a patient diagnosed with eosinophilic granulomatosis with polyangiitis (EGPA) previously known as Churg-Strauss vasculitis. To our knowledge, this is the first known case. METHODS: A 59-year-old man presented with a 2-month history of bilateral leg weakness, difficulty ambulating, and dyesthesias. While in the hospital, he developed acute right hand weakness, and magnetic resonance imaging of the brain revealed multiple, bilateral ischemic infarcts. After a few days, he acutely became unresponsive and was found to have a large left frontal hematoma and underwent emergent hematoma evacuation. His weakness was unexplained by the infarcts based on location and so a peripheral process was suspected. RESULTS: Nerve conduction studies showed severe axonal sensorimotor neuropathy. A sural nerve biopsy showed necrotizing vasculitis, consistent with EGPA. CONCLUSIONS: EGPA is the rarest of the antineutrophilic cytoplasmic antibody vasculitides. The peripheral nervous system is frequently involved, but the central nervous system can also be affected. The vasculitis damages the vessel walls, which leads either to stenosis or to dilatation, resulting in ischemic or bleeding consequences which can occur simultaneously, such as in this case. Caution should be exercised when prescribing antiplatelet therapy to such patients.

Diffuse midline glioma, H3K27-altered, of the conus medullaris presenting as acute urinary retention: illustrative case.

BACKGROUND: Diffuse midline glioma (DMG), H3K27-altered, is a rare, highly malignant central nervous system neoplasm that arises in midline structures. They are more commonly encountered in children and are rarely encountered in adults, usually in the thalamus or spinal cord. The presence of the H3K27 mutation in the H3F3A gene automatically classifies a tumor as World Health Organization grade IV. These tumors carry a grim prognosis, with an overall median survival of less than 1 year. OBSERVATIONS: The authors report the case of a 38-year-old male presenting with acute-onset urinary retention who was found to have an expansile, well-circumscribed mass involving the conus medullaris at the level of T12-L1. A T12-L1 laminectomy and tumor debulking were performed. Pathology revealed glial cells with astrocytic morphology among Rosenthal fibers, microvascular proliferation, and cellular atypia. The H3K27 mutation was confirmed. LESSONS: DMG, H3K27-altered, is a rarely encountered entity that can present in numerous midline structures. If localized to the conus medullaris, it may present as acute-onset urinary retention in a previously asymptomatic patient. Further investigation is needed to characterize its molecular and clinical features in adults to improve the management of those presenting with these tumors.

Annexin A2 promotes glioma cell invasion and tumor progression.

Gliomas are highly invasive, lethal brain tumors. Tumor-associated proteases play an important role in glioma progression. Annexin A2 is overexpressed in many cancers and correlates with increased plasmin activity on the tumor cell surface, which mediates degradation of extracellular matrix and promotes neoangiogenesis to facilitate tumor growth. In this study, we used two glioma cell lines, mouse GL261-EGFP and rat C6/LacZ, as well as stable clones transfected with an annexin A2 knockdown construct. We find that the annexin A2 knockdown decreased glioma cell migration in vitro and decreased membrane-bound plasmin activity. In vivo, we injected the glioma cells into the rodent brain and followed glioma progression. Knockdown of annexin A2 in glioma cells decreased tumor size and slowed tumor progression, as evidenced by decreased invasion, angiogenesis, and proliferation, as well as increased apoptosis in the tumor tissue of the annexin A2 knockdown group. Moreover, we report that the levels of expression of annexin A2 in human glioma samples correlate with their degree of malignancy. Together, our findings demonstrate that inhibition of annexin A2 expression in glioma cells could become a new target for glioma therapy.

Bilateral microsporidial keratoconjunctivitis in a clinically healthy female receiving intravitreal steroid injections: Associations and potential risk factors.

Purpose: To present a unique case of bilateral microsporidial keratoconjunctivitis in a clinically healthy female receiving intravitreal steroid injections, and explore several associations and potential risk factors. Observations: A 75-year-old woman with chronic idiopathic anterior uveitis was receiving regular intravitreal steroid in both eyes for secondary cystoid macular edema. Flare-ups of iritis were usually treated with topical non-steroidal anti-inflammatory drops, but in the left eye the patient also received a few limited courses of topical corticosteroid. The patient regularly instilled topical cyclosporine 0.05% for dry eyes. She was otherwise clinically healthy but had low serum Immunoglobulin (Ig) M levels. There was no history of trauma or exposure to contamination. In her course of treatment, she developed a bilateral punctate keratitis. Corneal scrapings were diagnostic of Microsporidia. Topical voriconazole and moxifloxacin, as well as corneal debridement, were effective in resolving the infection. Conclusions and importance: We propose that the factors and associations described in this case--intravitreal steroid, topical steroid, topical cyclosporine, and IgM deficiency--contributed variably to create relative, local, immunologic suppression in our patient. Among these potential risk factors, we believe that intravitreal steroid exposure may be prominent. In aggregate, they facilitated development of her opportunistic microsporidial corneal infection. Eye care specialists should have a high index of suspicion for microsporidial keratitis, if they observe an atypical chronic punctate keratitis in patients with similar clinical associations.

The Burden of Neurocysticercosis at a Single New York Hospital.

Neurocysticercosis (NCC), a disease caused by the larval pork tapeworm Taenia solium, has emerged as an important infection in the United States. In this study, we describe the spectrum of NCC infection in eastern Long Island, where there is a growing population of immigrants from endemic countries. A retrospective study was designed to identify patients diagnosed with NCC using ICD-9 and ICD-10 codes in the electronic medical records at Stony Brook University Hospital between 2005 and 2016. We identified 52 patients (56% male, median age: 35 years) diagnosed with NCC in the only tertiary medical center in Suffolk County. Twenty-five cases were reported in the last three years of the study. Forty-eight (94%) patients self-identified as Hispanic or Latino in the electronic medical record. Twenty-two (44%) and 28 (56%) patients had parenchymal and extraparenchymal lesions, respectively. Nineteen (41.3%) patients presented with seizures to the emergency department. Six patients (11.7%) had hydrocephalus, and five of them required frequent hospitalizations and neurosurgical interventions, including permanent ventriculoperitoneal shunts or temporary external ventricular drains. No deaths were reported. The minimum accumulated estimated cost of NCC hospitalizations during the study period for all patients was approximately 1.4 million United States dollars (USD). In conclusion, NCC predominantly affects young, Hispanic immigrants in Eastern Long Island, particularly in zip codes correlating to predominantly Hispanic communities. The number of cases diagnosed increased at an alarming rate during the study period. Our study suggests a growing need for screening high-risk patients and connecting patients to care in hopes of providing early intervention and treatment to avoid potentially detrimental neurological sequelae.

Rheumatoid meningitis and infection in absence of rheumatoid arthritis history: review of 31 cases.

A 62-year-old healthy male presents with leg weakness and fever. Imaging revealed leptomeningeal enhancement (LE). After cerebrospinal fluid (CSF) cultures were negative, he was discharged with a diagnosis of aseptic meningitis, but was readmitted due to worsening symptoms. Brain biopsy suggested rheumatoid leptomeningitis associated with elevated serum rheumatoid factor (RF) and anti-cyclic citrullinated peptide antibodies (ACPA). Following discharge, the New York State Department of Health (NYSDOH) reported a polymerase chain reaction (PCR) on CSF and brain DNA consistent with Naegleria fowleri (NF). After dramatic improvement on steroids, the patient declined antimicrobial treatment. Upon prednisone taper, symptoms recurred which responded to rituximab (RTX). This case highlights a possible association between rheumatoid leptomeningitis (RM) onset and infection, in a patient without a history of rheumatoid arthritis (RA). Our goal is to assess whether this association is present in 69 RM cases reported since 2000. We also describe diagnosis and treatment of 31 new cases (January 2017 to March 2020). We did not identify evidence of active/latent infection in patients with RM and previous RA; however, patients without RA history appeared to have a significantly higher rate. This finding could demonstrate the necessity of evaluating for infection in de novo RM cases without antecedent RA history. We also describe characteristic clinical patterns for each group. More studies are needed to corroborate these results and expand into a possible distinct natural history of RM in each group, which might have an impact upon the clinical outcome.

Toe walking after three: how serious could it be?

A 4-year-old girl with no significant medical or family history presented with toe walking, leg pain, unsteady gait and frequent falls for 2 months. Examination revealed upper motor neuron signs in the lower extremities. Laboratory tests were normal including creatinephosphokinase and lactate dehydrogenase. Brain and lumbar spine MRI were normal. MRI cervical and thoracic spine showed a large intradural and extradural mass arising from the right C7 nerve root, widening of the neural canal with evidence of cord compression. She underwent C6-C7 laminectomy with excision of the tumour. Pathology revealed spindle cell tumour with extensive expression of S100 protein and CD56, with Ki-67 proliferation index of 1%-2% consistent with benign schwannoma. She made an excellent recovery following surgery and physiotherapy sessions. Review of literature shows rare reported case of schwannoma prior to the third decade of life.

Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome.

Ectopic craniopharyngioma is uncommon and a craniopharyngioma confined purely within the fourth ventricle is extremely rare. We report a craniopharyngioma of the fourth ventricle in a 20-year-old man with Gardner syndrome. Imaging characteristics of craniopharyngiomas and fourth ventricle lesions are discussed with a review of the literature regarding the pathogenesis of craniopharyngiomas and the possible association with Gardner syndrome.

Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome.

We report a case of a 37-year-old woman presenting with dysphagia and thyroid masses who was subsequently diagnosed with Lhermitte-Duclos disease (LDD) based on MRI scan and histopathology. Additional imaging subsequently revealed the presence of thyroid nodules and bilateral breast cancers. Genetic testing later confirmed the diagnosis of Cowden syndrome. This case illustrates the importance of the overlap between LDD, Cowden syndrome, thyroid disease, and breast cancer.

Intraspinal psammomatous melanotic schwannoma not associated with Carney complex: case report.

The authors present a case of intraspinal malignant psammomatous melanotic schwannoma (PMS) not associated with Carney complex and review all reported cases not associated with this syndrome. The focus of this review paper is on the characteristics of the malignant progression of PMS. A 54-year-old man had a history of squamous cell carcinoma of the neck and tonsillar carcinoma. The patient's serial CT scanning study showed a mass in the left C-5 foramen. On presentation he was neurologically intact. After 18 months, the patient developed radiating pain down the left arm with decreased sensation. MRI of the cervical spine showed an enhancing 2.1 × 1.5 × 1.9-cm mass in the left C5-6 foramen. A C5-6 hemilaminectomy was performed with gross-total removal of the tumor. At 3 months postoperatively, the patient developed new-onset pain and weakness. MRI showed a dumbbell-shaped mass in the left C-7 foramen. MRI of the pelvis showed a 1.4 × 1.0-cm lesion on the right ischium and a 1.1 × 2.8-cm lesion on the right inferior pubic ramus. Anterior cervical discectomy of C5-6 and C6-7 with corpectomy of C-6 with subtotal resection of the tumor was completed. PMS should not be considered a benign tumor because in 41.1% of patients, including the patient in this report, the tumor progresses to malignancy. Long-term follow-up is needed in these patients. New surgical treatment plans should be considered.

Head trauma can initiate the onset of adreno-leukodystrophy.

X-linked adreno-leukodystrophy and its adult variant, adrenomyeloneuropathy, are caused by mutations in ABCD1 that encodes a peroxisomal membrane protein of unknown physiological significance. In spite of identical mutations, they can have markedly divergent neurological and neuropathologic characteristics. Adreno-leukodystrophy classically presents in normal boys with mild neuropsychiatric features, which progress to frank neurological signs, the vegetative state and death in approximately three years. Adrenomyeloneuropathy typically affects young men with spastic paraparesis and sensory ataxia that can progress over decades. The neuropathologic correlate for adreno-leukodystrophy is severe inflammatory demyelination of posterior cerebral white matter, while a chronic distal axonopathy of spinal cord and peripheral nerve occurs in adrenomyeloneuropathy. Consequently, both modifier genes and environmental factors have been implicated in their pathogeneses. We report five cases of adreno-leukodystrophy whose onsets were initiated by moderate to severe head trauma, two of whom were conversions from adrenomyeloneuropathy. Their clinical courses were rapidly incapacitating, short (i.e., weeks to a few years) and fatal due to marked cerebral inflammatory demyelination. These cases, in concert with several previous reports, indicate that head trauma is one environmental factor that can have a profoundly deleterious effect on those genetically at risk for, or with milder clinical phenotypes of, this disease. Avoidance of potential head trauma and a rapid response to episodes of moderate to severe head trauma in this patient population seem prudent.

Drug-induced myopathy and neuropathy.

We review the drugs that are known to induce muscle and/or nerve toxicity, describe the commonly encountered signs and symptoms, and discuss the mechanisms believed to be behind these iatrogenic effects. The diagnostic approach to patients suspected of having drug-induced neuromuscular disorders includes a comprehensive history and physical examination, proper blood workup, electrophysiological studies, and, if necessary, muscle or nerve biopsy. A lot of controversial issues continue to prevail when reviewing such a topic, secondary to the greatly variable levels of certainty for the association between drugs and their neuromuscular toxicity. We focus on drugs that are proven to cause these adverse effects, with less emphasis on the anecdotally suspected agents for which coincidence has not been eliminated.