Fourth ventricle neurocysticercosis presenting with Bruns’ syndrome: A case report

Background: Neurocysticercosis (NCC) is the most common helminthic infection of the central nervous system. We present a case of the fourth ventricle NCC that presented with Bruns’ syndrome (with headaches worsened by head movements, gait ataxia, and vomiting) and the operative technique used for cyst removal. Case Description: A 39-year-old woman was admitted to the emergency department with moderate-to-severe headaches that got worse in the afternoon and were triggered by head movements, relieved on prone position, and were associated with gait ataxia and vomiting. A brain magnetic resonance imaging (MRI) showed a fourth ventricle cyst, with an eccentric enhancing nodule compatible with a larvae scolex and associated obstructive hydrocephalus. The patient was positioned prone and underwent a microsurgical resection of the cyst without rupture through a telovelar approach to the fourth ventricle. The postoperative MRI confirmed complete cyst removal and resolution of the hydrocephalus. At 12-month follow-up, the patient remains with no signs of disease recurrence. Conclusion: In this report, we depict a case of intraventricular NCC successfully treated with a single surgery, allowing intact cyst removal and achieving effective hydrocephalus treatment with no need to resort to cerebrospinal fluid diversion techniques.

A Case Report on Spinocerebellar Ataxia Type 2

Objectives: The purpose of this study was to investigate a case of a patient with spinocerebellar ataxia (SCA) type 2 whose condition improved following treatment with Korean medicine.Methods: A 25-year-old man, diagnosed with SCA type 2, was treated with herbal medicine (Yukmijiwhang-tang-gami), acupuncture, and physical treatment. The therapeutic effect was evaluated using the Berg Balance Scale (BBS) and gait status.Results: Following treatment, the BBS score increased, and gait ataxia improved.Conclusions: This case study suggests that Korean medicine could be effective for relieving symptoms of SCA type 2.

Neurofascin-155 Immunoglobulin Subtypes: Clinicopathologic Associations and Neurologic Outcomes

Background and Objective:Multiple studies highlighting diagnostic utility of neurofascin 155 (NF155)-IgG4 in chronic demyelinating inflammatory polyradiculoneuropathy (CIDP) have been published. However, few studies comprehensively address the long-term outcomes, or clinical utility of NF155-IgM or NF155-IgG, in the absence of NF155-IgG4. In this study we evaluate phenotypic and histopathological specificity, and differences in outcomes between these NF155 antibody isotypes or IgG subclasses. We also compare NF155-IgG4 seropositive cases to other seropositive demyelinating neuropathies.Methods:In this study, neuropathy patient sera seen at Mayo Clinic were tested for NF155-IgG4, NF155-IgG and NF155-IgM autoantibodies. Demographic and clinical data of all seropositive cases were reviewed.Results:We identified 32 NF155 patients (25 NF155-IgG positive [20 NF155-IgG4 positive], 7 NF155-IgM seropositive). NF155-IgG4 seropositive patients clinically presented with distal more than proximal muscle weakness, positive sensory symptoms (prickling, asymmetric paresthesia, neuropathic pain) and gait ataxia. Cranial nerve involvement (11/20, 55%) and papilledema (4/12, 33%) occurred in many. Electrodiagnostic testing (EDX) demonstrated demyelinating polyradiculoneuropathy (19/20, 95%). Autonomic involvement occurred in 45% (n=9, median CASS score 3.5, range 1-7). Nerve biopsies from the NF155-IgG4 patients (n=11) demonstrated grouped segmental demyelination (50%), myelin reduplication (45%) and paranodal swellings (50%). Most patients needed 2nd and 3rd line immunosuppression but had favorable long-term outcomes (n=18). Among 14 patients with serial EDX over 2 years, all except one demonstrated improvement after treatment. NF155-IgG positive NF155-IgG4 negative (NF155-IgG positive) and NF155-IgM positive patients were phenotypically different from NF155-IgG4 seropositive patients. Sensory ataxia, neuropathic pain, cerebellar dysfunction and root/plexus MRI abnormalities were significantly more common in NF155-IgG4 positive compared to MAG-IgM neuropathy. Chronic immune sensory polyradiculopathy (CISP)/CISP-plus phenotype was more common among Contactin-1 neuropathies compared to NF155-IgG4 positive cases. NF155-IgG4 positive cases responded favorably to immunotherapy compared to MAG-IgM seropositive cases with distal acquired demyelinating symmetric neuropathy (p<0.001) and had better long-term clinical outcomes compared to contactin-1 IgG (p=0.04).Discussion:We report long-term follow-up and clinical outcome of NF155-IgG4 patients. NF155-IgG4 but not IgM or IgG patients have unique clinical-electrodiagnostic signature. We demonstrate NF155-IgG4 positive patients, unlike classical CIDP with neuropathic pain and dysautonomia common at presentation. Long-term outcomes were favorable.Classification of Evidence:This study provides Class III evidence that NF155-IgG4 seropositive patients, compared to typical CIDP patients, present with distal more than proximal muscle weakness, positive sensory symptoms, and gait ataxia.

Laurence Moon Bardet Biedl Syndrome Presenting as Refractory Hyperkalaemia - Explore Everything

Laurence Moon Bardet Biedl syndrome (LMBBS) / Bardet–Biedl disorder (BBS) is an uncommon hereditary disease that is autosomally recessive. It is described by obesity, mental hindrance, dysphoric furthest points (syndactyly, brachydactyly, or polydactyly), retinal dystrophy or retinitis pigmentosa, hypogonadism, and renal abnormalities (among the prevailing aspects).1 LMBBS shares its similarities with Oliver McFarlane syndrome [OMS]. Many patients experienced a gradual loss of vision as a result of retinitis pigmentosa. In retinitis pigmentosa, initially, patients will have night blindness which can be progressed into colour blindness and tunnel vision. Patients of LMBBS may have taurodontism, the condition in which the tooth’s body is greater than the roots.2 Patients of LMBBS can develop chronic renal failure.3 Other features such as brachycephaly, learning disability and gait ataxia can be found in LMBBS patients.

Lambert-Eaton Myasthenic Syndrome Presenting as Cerebellar Symptoms

A 79-year-old man visited neurology clinic due to gait ataxia and vertigo for 10 months. Neurologic examination revealed saccadic pursuit, mild dysmetria, impaired tandem gait, and areflexia that recovers after exercise. The amplitude of compound muscle action potentials recorded on the abductor digiti minimi increased up to 6,639.4% during repetitive nerve stimulation at 50 Hz stimulation. This case demonstrates that clinicians should consider Lambert-Eaton myasthenic syndrome as a differential diagnosis when a patient complains of gait ataxia and vertigo.

Hypocupraemia-induced anaemia, sensory ataxia and cognitive impairment secondary to zinc-containing dental adhesive

A 67-year-old man presented with 5 months of worsening memory impairment and sensory gait ataxia on the background of symptomatic anaemia. He experienced falls, agitation and became socially withdrawn over 3 weeks, resulting in hospital admission. On examination, he had sensory gait ataxia consistent with a dorsal column syndrome. He scored 13/30 on the Montreal Cognitive Assessment. Serum analysis showed normocytic anaemia and leucopenia, severe hypocupraemia, reduced caeruloplasmin and normal zinc levels. Overuse of zinc-containing denture cream was the cause of excess zinc ingestion and resultant copper deficiency, leading to blood dyscrasia and myelopathy. The cream was withdrawn and intravenous and then oral copper supplementation was implemented. Direct questions with regard to excess zinc in the diet and serological testing of copper and zinc should be considered in any patient with a dorsal column syndrome, particularly with concurrent anaemia. Copper deficiency may also have a role in exacerbating pre-existing cognitive impairment.

‘Essential Tremor’ Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers

Fragile X-associated tremor/ataxia syndrome (FXTAS) occurs in carriers of fragile X mental retardation 1 (FMR1) X-linked small CGG expansion (gray zone [GZ] and premutation [PM]) alleles, containing 41–200 repeats. Major features comprise kinetic tremor, gait ataxia, cognitive decline and cerebellar peduncular white matter lesions, but atypical/incomplete FXTAS may occur. We explored the possibility of polygenic effects modifying the FXTAS spectrum phenotypes. We used three motor scales and selected cognitive tests in a series of three males and three females from a single sibship carrying PM or GZ alleles (44 to 75 repeats). The molecular profiles from these siblings were determined by genomewide association study with single-nucleotide polymorphism (SNP) genotyping by Illumina Global Screening Array. Nonparametric linkage analysis was applied and Parkinson’s disease (PD) polygenic risk scores (PRSs) were calculated for all the siblings, based on 107 known risk variants. All male and female siblings manifested similar kinetic tremor phenotypes. In contrast to FXTAS, they showed negligible gait ataxia, and few white matter lesions on MRI. Cognitive functioning was unaffected. Suggestive evidence of linkage to a broad region of the short arm of chromosome 10 was obtained, and median PD PRS for the sibship fell within the top 30% of a sample of over 500,000 UK and Australian controls. The genomewide study results are suggestive of modifying effects of genetic risk loci linked to PD, on the neurological phenotype of FMR1-CGG small expansion carriers, resulting in an oligosymptomatic kinetic tremor seen in FXTAS spectrum, but also consistent with essential tremor.

CISP-Plus: Expanding the Spectrum of Chronic Immune Sensory Polyradiculopathy (CISP)

Objectives:Sensory loss with normal nerve conduction studies (NCS) from focal sensory root inflammatory demyelination is characteristic of chronic immune sensory polyradiculopathy (CISP). However, non-pure cases involving motor and distal sensory nerves exist (CISP-plus). We hypothesize that CISP-plus and CISP are fundamentally part of the same syndrome through comparison of clinical, neurophysiological and pathological features.Methods:CISP-plus (primary dorsal root with lesser motor and sensory nerve involvement) and CISP cases were retrospectively analyzed (1986-2019).Results:We identified 44 CISP-plus and 28 CISP cases (n=72) with 86% (38/44) of CISP-plus and 79% (22/28) of CISP patients experiencing imbalance. On examination, large fiber sensory loss was present in 98% (43/44) of CISP-plus and 96% (27/28) of CISP. Gait ataxia was evident in 93% (41/44) of CISP-plus and 79% (22/28) of CISP. Mild distal weakness was common in CISP-plus (75%, 33/44). NCS showed mild abnormalities in all CISP-plus and were normal (by definition) in all CISP. Elevated cerebral spinal fluid (CSF) protein, slowing of somatosensory evoked potentials and MRI root enhancement occurred in most CISP-plus and CISP cases. Eleven CISP-plus nerve biopsies showed loss of large myelinated fibers and onion-bulb formation most prominent in rootlet biopsies. Immunotherapy resulted in marked improvement of gait ataxia in 84% (27/32) of CISP-plus and 93% (14/15) of CISP cases with return to normal neurological examination in half (25/46).Conclusion:The recognition of CISP-plus expands the spectrum of CIDP by combining CISP-plus (predominant sensory polyradiculopathy with mild motor and sensory nerve involvement) with pure-CISP (focal sensory polyradiculopathy) together as proximal sensory CIDP.

Case of hypoactive delirium precipitated by thiamine deficiency

Thiamine is an essential cofactor in the process of nucleic acid synthesis. Neuronal tissues are especially sensitive to thiamine deficiency, manifesting as Wernicke’s encephalopathy (WE). The typical triad of WE, encephalopathy, oculomotor dysfunction and gait ataxia, is only present in less than one-third of the cases. We present the case of a middle-aged man with hypoactive delirium due to presumed thiamine deficiency, who had a prolonged hospital course and a delayed diagnosis of the cause of altered mental status. The presentation of this disorder solely as a decreased level of consciousness is uncommon but has been reported in the literature. It is essential to recognise WE as a treatable condition that may manifest only as a hypoactive delirium. The delay in the diagnosis and treatment may lead to coma and death.