Chronic flaccid quadriparesis from tract specific myelopathy in neurosyphilis.

INTRODUCTION: Tract-specific myelopathies with distinctive imaging features are uncommon and typically occur with metabolic or paraneoplastic syndromes. We report a unique case of tract-specific myelopathy with neurosyphilis. CASE PRESENTATION: A 53-year-old male presented with a four-month history of flaccid quadriparesis, sensory loss, and bladder dysfunction. His MRIs revealed striking symmetric T2-weighted hyperintensities in the lateral corticospinal tracts and dorsal columns of the cervical spinal cord that extended rostrally into the pyramidal decussation and medial lemnisci of the medulla oblongata. Nerve conduction and needle electromyography studies excluded axonal or demyelinating lower motor neuron disorders. The patient reported previous untreated primary syphilis and was seropositive on the T.pallidum hemagglutination assay. Penicillin therapy resulted in substantial clinical improvement. DISCUSSION: Although syphilitic meningomyelitis is well-reported, our patient was unique because of the persistent flaccidity (possibly suggesting prolonged spinal shock) and striking tract-specific MRI patterns. These features are novel in syphilitic myelitis and suggest unknown mechanisms of tract-specific tropism and neuronal injury. CONCLUSIONS: "Tract-specific" complete transverse myelopathy with persistent flaccid weakness and areflexia is a novel presentation of neurosyphilis. Early recognition and crystalline penicillin therapy can alleviate morbidity. Our report describes this patient's findings and discusses the differential diagnoses of tract-specific myelopathies.

Haemodynamic stroke in a rare adult presentation of osteopetrosis.

Osteopetrosis refers to a collection of metabolic bone diseases with impaired osteoclastic activity resulting in abnormally dense and dysplastic bone. Cranial involvement results in severe complications, including compressive nerve palsies, hydrocephalus and tonsillar herniation. Ischaemic stroke is very rarely reported in osteopetrosis, resulting from vascular impingement. We report a young adult woman with CLCN7 (Chloride Voltage-Gated Channel 7) gene-related osteopetrosis and ischaemic stroke resulting from diffuse and focal arterial stenosis and severe myelophthisic anaemia. Acute management included blood transfusions, lay-flat positioning and fever treatment, which resulted in partial recovery of her initial neurological deficits. Our case highlights this very rare stroke syndrome's unique mechanisms and treatment challenges.

Clinical Spectrum, Therapeutic Outcomes and Prognostic predictors in Paraneoplastic Neurological Syndromes - Experiences from a Tertiary Care Center in India.

BACKGROUND: Paraneoplastic Neurological Syndromes (PNSs) are a heterogeneous group of immune-mediated disorders that often precede tumor diagnosis. There are few systematic studies on the spectrum and follow-up of PNSs. OBJECTIVE: To analyze the clinical spectrum, associated tumors, antibody profile, outcomes, and prognostic predictors in a cohort of PNSs admitted in a tertiary care center. METHODS: This retrospective study included 97 patients (2008-2019). PNSs were further classified as "classical," "nonclassical," "definite," and "possible." Clinical profile, diagnostic strategies, therapeutic options, and predictors of outcomes were identified. RESULTS: The median age was 54 years (range 17-81). Thirty-nine (40.2%) had classical PNS, and 58 (59.8%) had nonclassical PNS, 74 (76.3%) had "Definite" PNS while 23 (23.7%) had "Possible" PNS. Cerebellar degeneration, peripheral neuropathy, and encephalopathy were the three most common neurological syndromes. Tumors were diagnosed in 66 (68%) patients; Lung cancer was the most common primary tumor. Antibodies were positive in 52 (53.6%). Anti-Yo antibody and anti-Ma2 antibody were the most common antibodies. The majority (57.7%) received immunotherapy in addition to definitive treatment for the tumor. A good outcome was seen in 53 (54.6%). Factors associated with good outcome were: early diagnosis, mRS <3 at presentation, absence of metastatic disease, and adjuvant immunotherapy. CONCLUSION: A high index of clinical suspicion is essential for early diagnosis and prompt management of PNS, especially the nonclassical syndromes. Multimodality diagnostic imaging techniques and antibody profiling play a crucial role in the diagnosis. A favorable prognosis can be expected with the judicious use of immunotherapy and definitive treatment of malignancy.

Progressive midbrain clefts after head trauma and decompressive surgery: a report of two patients.

This report describes two patients with acute-onset ptosis, oculomotor dysfunction, ataxia and drowsiness, referable to the midbrain tegmentum. Both patients had previously suffered severe closed head injuries requiring craniotomy for cerebral decompression. Serial brain scans in both cases revealed a newly developing cleft in the midbrain, with features suggestive of abnormal cerebrospinal fluid (CSF) flow across the aqueduct. A trial of acetazolamide was initiated to reduce CSF production, followed by a third ventriculostomy for CSF diversion in one patient, which resulted in arrested disease progression and partial recovery. There are only two previous reports in the literature of midbrain clefts that developed as remote sequelae of head trauma. We postulate that altered CSF flow dynamics in the aqueduct, possibly related to changes in brain compliance, may be contributory. Early recognition and treatment may prevent irreversible structural injury and possible death.

Monoclonal Gammopathies of 'Neurological Significance': Paraproteinemic Neuropathies.

OBJECTIVES: To study the clinical profile and outcomes of patients with paraproteinemic neuropathy (PPN) and to explore the utility of nerve conduction studies (NCSs) to differentiate between the demyelinating subtypes. METHODS: We did a retrospective analysis of patients diagnosed with PPN between January 2010 and December 2019 in an inpatient setting. The study population consisted of patients above 16 years of age presenting with clinical features suggestive of chronic peripheral neuropathy and on evaluation was found to have PPN. RESULTS: A total of 74 patients were identified. The patients were predominantly in the 6th decade, and the majority were males. The subtypes of PPN were monoclonal gammopathy of undetermined significance (MGUS) (45.9%), POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma cell disorder, and skin changes) (24.3%), solitary plasmacytoma (17.6%), multiple myeloma (8.1%), and AL amyloidosis (4.1%). There are specific features on NCS which can help in identifying POEMS syndrome and IgM MGUS. The majority of patients with PPN tend to stabilize or improve with treatment; however, many have a severe residual disability. New terminology and classification of these entities as 'monoclonal gammopathies of neurological significance' can aid in early diagnosis and the development of effective treatment, to prevent residual disability. CONCLUSION: PPN has a heterogeneous spectrum of clinical, biochemical, and electrophysiological features. NCS can help distinguish POEMS syndrome and IgM MGUS from other demyelinating subtypes.

Age-Dependent Reduction in Severity and Discrete Topographical Patterns in Rasmussen Encephalitis: A Link to Cortical Maturation?

BACKGROUND: Autopsy studies in Rasmussen encephalitis reveal areas of sparing within the affected hemisphere. Clinical progression and inflammation are milder with an older onset. We sought to demonstrate radiological corroboration for these patterns. METHODS: In our retrospective study, 38 cases were dichotomized into severe pan-hemispheric (all lobes involved) and sub-hemispheric groups (others) to identify age demographics and other severity predictors. The extent and patterns of radiological pathology in the cortex and subcortical structures were assessed by structured visual grading. Relevant clinical data were also reported. RESULTS: Children with pan-hemispheric involvement were younger at onset (P < 0.001) and were more likely to present with status epilepticus (odds ratio 8.5, 95% confidence interval 1.5 to 50.0, P = 0.022). A history of perinatal asphyxia/hospitalization (P < 0.001) and delayed milestones (P = 0.013) were encountered exclusively in this group, and progression to a low-amplitude record background on electroencephalography, suggesting that cortical damage was identified frequently (P = 0.038, odds ratio = 5.7, 95% confidence interval 1.3 to 25.0). Visual grading revealed significant differences among both cortical (P < 0.001) and subcortical (P < 0.001) regions. On multivariate analysis, the odds for pan-hemispheric disease decreased per year of age at onset (P = 0.022, odds ratio 0.51, 95% confidence interval 0.085 to 0.725). Epilepsy surgery (n = 14) was associated with Engel Class 1 seizure control (P < 0.001). Immunosuppressive therapy (n = 20) did not demonstrate a significant seizure remission (P = 0.157, odds ratio 0.39, 95% confidence interval 0.10 to 1.55). CONCLUSIONS: Our case series confirms the presence of specific topographical patterns of macroscopic radiological pathology over the affected hemisphere with a marked age-associated reduction in the odds for severe pan-hemispheric disease.

Clinical Spectrum, Therapeutic Outcomes, and Prognostic Predictors in Sjogren's Syndrome-associated Neuropathy.

OBJECTIVES: There are limited data regarding long-term follow-up and therapeutic outcomes in Sjogren's syndrome (SS)-associated peripheral neuropathy. In this study, we aim to study the clinical, electrophysiological spectrum and therapeutic responses among the different subtypes of SS-associated neuropathy. The predictors of suboptimal treatment response will be identified. METHODS: The study included a retrospective cohort of patients with SS-associated neuropathy between January 2012 and November 2015. Baseline clinical, laboratory, electrophysiological data and details of treatment were noted. Therapeutic outcomes were assessed at follow-up and compared among the different subtypes. Prognostic predictors were determined using logistic regression analysis. RESULTS: Fifty-four patients were included in the study. Sensory ataxic neuropathy (17, including 9 with sensory ganglionopathy) and radiculoneuropathy (11) were the main subtypes. Notable atypical presentations included acute neuropathies, pure motor neuropathies, and hypertrophic neuropathy. Concomitant autoimmune disorders were present in 24 (44.4%) patients. Most presentations were subacute-chronic (51, 94.4%). Minor salivary gland biopsy had a higher yield compared to serological markers (81.5 vs. 44.4%). Sensory ataxic neuropathy was associated with greater severity and autonomic dysfunction. Improvement was noted in 33 (61%) patients. Cranial neuropathy and radiculoneuropathy subtypes were associated with the best treatment responses. Chronicity, orthostatic hypotension, baseline severity, and marked axonopathy (nerve biopsy) were predictive of a suboptimal therapeutic response. CONCLUSIONS: The study highlights the heterogeneous spectrum, atypical presentations, and differential therapeutic responses. SS-associated neuropathy remains underdiagnosed. Early diagnosis and prompt initiation of immunotherapy before worsening axonal degeneration is paramount. SS-associated neuropathy need not necessarily be associated with a poor prognosis.