Enhancement Of Multiple Cranial Nerves Research Articles

Early Childhood Onset Vanishing White Matter Disease with Multiple Cranial Nerve Enhancement: A New Consensus Criteria?

Early Childhood Onset Vanishing White Matter Disease with Multiple Cranial Nerve Enhancement: A New Consensus Criteria?

Molecularly targeted immunotherapy used to treat a novel overlap syndrome of pediatric N‐methyl‐d‐aspartate receptor encephalitis (NMDARE) and possible neurosarcoidosis

AbstractObjectiveOverlap syndromes have been described between N‐methyl‐ d‐aspartate receptor encephalitis (NMDARE) and other neuroinflammatory conditions, although rarely involving neurosarcoidosis. Molecularly targeted immunotherapy may be helpful in the empiric treatment of these conditions.MethodsWe describe a 9‐year‐old boy with new‐onset seizures and worsening encephalopathy.ResultsInitial evaluation was concerning for neurosarcoidosis, including elevated cerebrospinal fluid (CSF) and serum angiotensin‐converting enzyme and leptomeningeal with multiple cranial nerve enhancement on magnetic resonance imaging. CSF and serum cytokine profiles were used to choose targeted empiric immunotherapy, and the boy's seizure burden and encephalopathy improved after treatment with tocilizumab. The NMDA receptor antibody titer was later found to be elevated, raising suspicion for a novel overlap syndrome.InterpretationOur patient met the criteria for definite NMDARE and possible neurosarcoidosis. Given the mixed radiographic and serologic markers in this child, cytokine levels were used to direct the choice of empiric treatment, resulting in excellent clinical response. This case suggests that targeted immunotherapy informed by cytokine testing may be helpful in cases of high‐acuity pediatric neuroinflammatory disease with limited diagnostic clarity.

UNILATERAL PTOSIS AS A FIRST MANIFESTATION OF SARCOIDOSIS

UNILATERAL PTOSIS AS A FIRST MANIFESTATION OF SARCOIDOSIS

An Early Presentation of Neurosyphilis Manifesting as Cranial Polyneuropathies: A Case Report

Neurosyphilis (NS) is a rarely reported disease, with neurological manifestations occurring in the late stages of the infection. The incidence of NS has steadily increased, particularly with increased cases of human immunodeficiency virus (HIV) infection among homosexual partners, and can occur at any stage of the disease. In this case report, we present a 53-year-old homosexual man with HIV who presented with a gradual onset of vertigo over a course of 2 weeks, followed by gradual onset of multiple cranial neuropathies. Magnetic resonance imaging of the brain revealed pathological enhancement of multiple cranial nerves. Laboratory workup revealed reactive Venereal Disease Research Laboratory dilutional titer in the cerebrospinal fluid, supporting the diagnoses of NS. He was treated with intravenous penicillin with gradual resolution of symptoms. Our case illustrates that NS can occur with no known prior evidence or manifestation of the infection. The diagnosis of NS should be entertained in individuals with a known history of HIV and unexplained multiple cranial neuropathies. J Neurol Res. 2021;11(1-2):27-31 doi: https://doi.org/10.14740/jnr650

An Early Presentation of Neurosyphilis Manifesting as Cranial Polyneuropathies: A Case Report

Neurosyphilis (NS) is a rarely reported disease, with neurological manifestations occurring in the late stages of the infection. The incidence of NS has steadily increased, particularly with increased cases of human immunodeficiency virus (HIV) infection among homosexual partners, and can occur at any stage of the disease. In this case report, we present a 53-year-old homosexual man with HIV who presented with a gradual onset of vertigo over a course of 2 weeks, followed by gradual onset of multiple cranial neuropathies. Magnetic resonance imaging of the brain revealed pathological enhancement of multiple cranial nerves. Laboratory workup revealed reactive Venereal Disease Research Laboratory dilutional titer in the cerebrospinal fluid, supporting the diagnoses of NS. He was treated with intravenous penicillin with gradual resolution of symptoms. Our case illustrates that NS can occur with no known prior evidence or manifestation of the infection. The diagnosis of NS should be entertained in individuals with a known history of HIV and unexplained multiple cranial neuropathies. J Neurol Res. 2021;11(1-2):27-31 doi: https://doi.org/10.14740/jnr650

Unusual Neuroimaging in a Case of Rapidly Progressive Juvenile-Onset Krabbe Disease

Krabbe disease is a progressive neurologic disorder caused by deficiency of the lysosomal enzyme galactocerebrosidase. The disease commonly has an early-infantile onset, but can have late-infantile, juvenile, or adult-onset phenotypes. Classic computed tomography (CT) and magnetic resonance imaging (MRI) findings in Krabbe have been well described. We report a patient, ultimately diagnosed with juvenile-onset Krabbe, who presented with atypical CT imaging and rapid disease progression. Our patient was a previously healthy and developmentally appropriate female who presented at 3 years 4 months of age with ataxia and motor regression that had progressed over the course of 6 weeks without an identifiable catalyst. CT, performed in the emergency setting, demonstrated extensive white matter hyperdensity. Subsequent MRI showed T2 hyperintensity of the white matter corresponding to the areas of hyperdensity on the CT, as well as enhancement of multiple cranial nerves bilaterally, suggestive of Krabbe disease. Enzymatic testing demonstrated low galactocerebrosidase activity and molecular testing of GALC revealed compound heterozygosity for 2 known pathogenic mutations, consistent with a diagnosis of Krabbe Disease. This included the common 30-kb deletion and a known pathogenic mutation associated with juvenile/adult-onset disease. Our patient's diffuse hyperdensity on CT offers a new radiographic finding to include in the repertoire of Krabbe imaging, and thus aide in the diagnostic evaluation. The rapidity of progression our patient demonstrated is additionally unique and should be considered in the identification of juvenile Krabbe as well as the complicated decision-making process regarding potential treatments.

Guillain-Barr\xe9 syndrome with associated unilateral ptosis without ophthalmoplegia \u2013 a rare presentation: a case report and review of the literature

BackgroundGuillain-Barré syndrome is an acute inflammatory polyradiculoneuropathy. Nearly half of patients with Guillain-Barré syndrome have cranial nerve involvement. However, isolated bilateral ptosis without ophthalmoplegia is a rare manifestation, and isolated unilateral ptosis without ophthalmoplegia in Guillain-Barré syndrome has not previously been reported in the literature. Furthermore, only few cases of Guillain-Barré syndrome with cranial nerve enhancement visualized by gadolinium-enhanced magnetic resonance imaging have previously been reported. We describe the first reported case of unilateral ptosis without ophthalmoplegia in Guillain-Barré syndrome and associated multiple cranial nerve enhancement seen by gadolinium-enhanced magnetic resonance imaging.Case presentationOur patient was a 55-year-old Sinhalese man who was admitted to a tertiary care hospital in Sri Lanka with acute-onset progressive weakness in the lower limbs followed by the upper limbs. He had bilateral symmetrical flaccid quadriparesis with absent reflexes and flexor plantar response. Left-sided isolated partial ptosis without associated ophthalmoplegia was noted with normal pupils. The patient’s neurological examination was otherwise normal. A nerve conduction study showed a severe demyelinating type of polyneuropathy. No decremental response to repetitive nerve stimulation was observed, and the result of a single-muscle-fiber electromyogram was negative. A diagnosis of Guillain-Barré syndrome was made, and the patient was treated with intravenous immunoglobulin. His condition gradually deteriorated over the next few days, and he became quadriplegic despite the completion of immunoglobulin therapy. Later he developed multiple cranial nerve palsies, including bi-lateral lower motor neuron type facial nerve palsy, and he required mechanical ventilation. By this time, he had complete left-sided ptosis with a normal right eye. He never developed ophthalmoplegia or ataxia. Magnetic resonance imaging of the brain showed contrast enhancement in the intracranial part of multiple cranial nerve roots and basal leptomeninges. He gradually improved with plasmaparesis, and ptosis was the first to improve.ConclusionsEven though Guillain-Barré syndrome was recognized a century ago, there are still many unanswered questions about it and its florid presentation. Large-scale studies are needed for better understanding of its pathophysiology and prototypes and to find answers for still-unanswered questions. The clinician must have a high index of suspicion and be familiar with mimics and prototypes to diagnose Guillain-Barré syndrome accurately without delay.

Primary histiocytic sarcoma of the central nervous system: a case report with platelet derived growth factor receptor mutation and PD-L1/PD-L2 expression and literature review

BackgroundHistiocytic sarcoma (HS) is an aggressive malignant neoplasm. HS in the central nervous system is exceptionally rare and associated with a poor prognosis. This report documents a case of primary HS of the central nervous system with treatment including surgery, radiotherapy, and chemotherapy.Case presentationOur patient was a 47 year old female presenting with progressive ataxia, headaches, imbalance, nausea, vomiting, and diplopia. MRI showed a heterogeneously enhancing lesion approximately 2.9 × 3.0 × 2.3 cm centered upon the cerebellar vermis with mild surrounding vasogenic edema and abnormal enhancement of multiple cranial nerves. The patient underwent surgical debulking, which revealed histiocytic sarcoma with grossly purulent drainage. Staging revealed diffuse leptomeningeal involvement, primarily involving the brain and lower thoracic and lumbar spine. She underwent adjuvant radiotherapy to the brain and lower spine and was started on high dose methotrexate. However, she experienced progressive disease in the cervical and thoracic spine as well as pulmonary involvement. Genomic sequencing of her tumor showed a mutation in the platelet-derived growth factor receptor A (p.V0681) which could be targeted with Dasatinib. However, she did not tolerate Dasatinib and she succumbed to progressive disseminated disease eight months from original diagnosis. Our pathologic evaluation also revealed expression of PD-L1 and PD-L2 by tumor cells raising the potential therapeutic role for immune checkpoint inhibition.ConclusionsThis case provides an example of effective CNS control with resection and moderate doses of radiation therapy. A review of the literature confirms aggressive multidisciplinary treatment is the most effective treatment against this disease. In addition, genomic sequencing may play an important role in determining new therapeutic options. However, CNS histiocytic sarcoma remains an aggressive disease with a propensity for early widespread dissemination and few long term survivors.

Multiple Cranial Nerve Enhancement: Uncommon Imaging Finding in Early Infantile Krabbe's Disease

Multiple cranial nerve enhancement in early infantile Krabbe's disease is an uncommon imaging finding. We present an 8-month-old infant with early infantile Krabbe's disease with enhancement of multiple cranial nerves and optic nerve hypertrophy.

Multiple Cranial Nerve Enhancement on MRI in Primary Sjoegren's Syndrome

A 77-year-old man showed bilateral abducens palsies and multiple cranial nerve enhancement on magnetic resonance images (MRI) and aseptic meningitis. He had xerophthalmia and xerostomia. Serum anti-SS-A and anti-SS-B antibodies were present. He had Sjögren's syndrome (SjS) and corticosteroid therapy ameliorated the symptoms. The cranial nerve enhancement and the cerebrospinal fluid findings were normalized. In patients with SjS, there have not been any reports of multiple areas of cranial nerve enhancement on MRI. We propose that in this case the aseptic meningitis and subsequent lymphocytic infiltration to the cranial nerves contributed to the multiple cranial neuropathy and multiple cranial nerve enhancement on MRI.

Isolated Cranial Nerve Enhancement in Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a lysosomal storage disorder with an estimated incidence of 1:40,000. Magnetic resonance imaging at time of diagnosis often shows symmetric white matter involvement, sparing the arcuate fibers. A 25-month-old female child presented with a cranial neuropathy, a spastic gait, decreased leukocyte arylsulfatase-A activity, and elevated urinary sulfatides. Magnetic resonance imaging revealed multiple cranial nerve enhancement, without intraparenchymal white matter involvement.

Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease

We present serial MR findings in a child ultimately diagnosed with the early infantile form of Krabbe disease. MR showed typical features of Krabbe disease including cerebellar and brainstem hyperintensity, periventricular and deep white matter hyperintensity, and cerebral atrophy. In addition, the combination of both enlargement and enhancement of multiple cranial nerves in conjunction with unusual cystic lesions adjacent to the frontal horns of the lateral ventricles was previously unreported and expands the spectrum of imaging findings in early Krabbe disease.

Multiple Cranial Nerve Enhancement: A New MR Imaging Finding in Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is a set of several disorders caused by deficient lysosomal activity. This deficiency results in accumulation of a metachromatic lipid material, galactosylceramide sulfatide, leading to the breakdown of the myelin sheath in both central and peripheral nervous