Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in a Large Cohort of Indian Patients.

BACKGROUND: Hirayama disease (HD) is a cervical compressive myelopathy. Anterior cervical discectomy and fusion (ACDF) is identified as the best surgical approach. We evaluated surgical outcomes and factors influencing ACDF in HD. METHODS: Between 2015 and 2019, 126 patients with HD underwent ACDF. Contrast magnetic resonance imaging of the cervical spine in full flexion was performed. Clinical examination and preoperative/postoperative assessment of hand function using Fugl-Meyer assessment, Jebsen-Taylor hand function test, and handheld dynamometry were performed at 3-monthly intervals for 1 year. Surgical outcomes were assessed as per the Odom criteria and Hirayama outcome questionnaire. RESULTS: Age at onset and duration of illness were 12-31 years (mean, 18 ± 2.7) and 1-96 months (32.7 ± 24.4), respectively. All patients had progressive weakness and wasting of the affected limb. Cord atrophy was seen in 97.1%, with epidural detachment and engorgement of the posterior epidural venous plexus in all. All patients underwent ACDF. Of these patients, 54% had an excellent/good outcome and 39% had a satisfactory outcome as per the Odom scale at last follow-up (mean, 44.9 ± 16.5 months) after surgery. Handheld dynamometry showed improvement from preoperative values to 1 year follow-up. Duration of illness and age at onset had a negative correlation and the preoperative Fugl-Meyer score had a positive correlation with improvement. CONCLUSIONS: ACDF resulted in remarkable improvement or stabilization in neurologic deficits in many patients with HD. Because motor disability ensues over time, early surgical intervention during the progressive phase is advocated.

Mastoid fluid signal in acute cerebral venous thrombosis is is associated with increased clot burden.

PURPOSE: Mastoid air cell abnormalities in the form of hyperintense T2 fluid signal have been reported in cases of acute Cerebral Venous Thrombosis (CVT) without otologic infection and have been hypothesized to be a result of venous congestion rather than infectious mastoiditis. The aim of this study was to investigate a link between the spectrum of mastoid abnormalities and clot burden in patients with acute CVT. METHODS: A retrospective study of adult patients admitted to the National Institute of Mental Health and Neurosciences between 2016 and 2023 who were diagnosed with acute CVT and had no clinical evidence of active or recent ear infections was conducted. Pre- and post-contrast MR Images were analyzed to identify the dural sinuses and/or cerebral veins involved and the presence of fluid signal in the mastoid. Fluid signal in the mastoid was graded from 0 to 3 as described by Shah et al- no fluid signal (grade 0), thin curvilinear hyperintensities (grade 1), thick crescenteric hyperintensities (grade 2), and complete hyperintensity (grade 3). Clot Burden Score (CBS) was calculated by assigning one point for each sinus involved, one point for extension of thrombus into the intracranial Internal Jugular Vein (IJV), one point for thrombosis of cortical veins and one point for thrombosis of deep cerebral veins. RESULTS: A total of 89 patients with acute CVT were included in the final analysis. Median time from presentation to MRI was 2 days (range 0-13). 51 patients (57.3%) had fluid signal in the mastoid air cells on T2-weighted images, of whom 33 showed mucosal contrast enhancement. Higher grade of fluid signal in the mastoid was present ipsilateral to the side of venous thrombosis in 59 out of 60 patients with posterior fossa CVT. CBS was significantly different between patients with different grades of fluid signal (p = 0.002). Grade 2-3 fluid signal was associated with higher clot burden (CBS > 3) in both the entire study population (n = 89) - OR = 8.281, 95 %CI: 2.758-24.866 (p < 0.001) and among patients with posterior fossa CVT - OR = 4.375, 95 %CI: 1.320-14.504 (p = 0.016). Among patients with posterior fossa CVT, grade 2-3 fluid signal was associated with left sided transverse and/or sigmoid sinus thrombosis - OR = 5.600, 95 %CI: 1.413-22.188 (p = 0.014), and extension of thrombosis into the IJV - OR = 4.606, 95 %CI: 1.162-18.262 (p = 0.030). CONCLUSION: T2 fluid signal in the mastoid is associated with venous congestion in adults with acute CVT without evidence of otologic infection. Moderate-to-severe T2 fluid signal in the mastoid air cells is associated with increased clot burden.

Inflammatory myofibroblastic tumors: A short series with an emphasis on the diagnostic and therapeutic challenges.

BACKGROUND: Inflammatory myofibroblastic tumors (IMTs) are a distinct entity of mesenchymal tumors. We present the challenges in their diagnosis and management. MATERIALS AND METHODS: A retrospective study with detailed clinical, radiological, and histopathological (HPE) features along with management and outcome of 10 biopsy-proven patients with IMT, between 2001 and 2020. RESULTS: The location included intracranial (5), orbital (4), and spinal (1) with M : F = 7 : 3. The mean age of onset was in the third decade. The commonest symptom was headache, while proptosis and blurred vision occurred in orbital IMTs. HPE revealed diffuse infiltration of mixed inflammatory cells over proliferating myofibroblasts. Smooth muscle antigen immunoreactivity was noted in fibroblastic spindle cells of all IMTs. However, we did not find anaplastic lymphoma kinase expression in any of our cases, as this is only found in ~ 50% of all IMTs. Tumor infiltration into adjacent tissue was noted in 4 patients. Surgical excision was limited to orbital IMTs, as most central nervous system (CNS) tumors were not amenable for resection. Steroid administration showed moderate improvement in the IMT-CNS patients but also required additional immunomodulation. Four patients had a median long-term follow-up of 7 years. Two patients had recurrent lesions demonstrated by imaging after 2 years of initial presentation. CONCLUSION: IMTs are rare and ambiguous tumors of unknown etiology that can occur anywhere in the body. Clinical and radiological features may not be specific to determine the diagnosis, but it should be considered as a differential diagnosis. Extensive thorough workup with histopathology along with the help of immunohistochemistry is conducive to better clinical outcomes. Surgical biopsy with extensive and total resection of these tumors along with steroid and radiotherapy may enhance the survival outcomes.

Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.

BACKGROUND AND OBJECTIVES: Thymic pathology is common in Myasthenia Gravis(MG) and plays a crucial role in its pathogenesis and clinical outcome. This study aims to discuss the clinicohistopathological spectrum of thymic lesions in MG. METHODS: In this retrospective study, MG patients who underwent thymectomy from 2011 to 2020 were included. Clinical, radiological, serological, and histopathological details are described. RESULTS: Of 83 patients(F = 45; M = 38), 7(8%) had ocular myasthenia, and the remaining 76(92%) had the generalized form. At onset, the median age was 36 years(M = 44; F = 31). AChR antibody was positive in 71/79 patients. RNST showed decrement response in 68/78 patients. The histopathological study demonstrated thymoma in 44(53%), thymic hyperplasias [32(38%)], involuted thymus [5(6%)], thymic cyst (1) and thymic lipoma (1). WHO grading of thymoma: B2- 48%, AB-18%, B-18%, B3-14%, A-2.3%. In these, capsular infiltration was noted in 11/44, 9 had focal and 2 had diffuse infiltration. Active germinal centers were present in 20/32 patients with thymic hyperplasia and 4/44 with thymoma. Thymomas were predominant in males and thymic hyperplasia in females. The age of onset and antibody positivity rate was higher in thymoma patients. CONCLUSION: In our cohort, there is a female preponderance. Thymoma was the commonest pathology followed by hyperplasia. We observed earlier onset of myasthenia in females. AChR antibody positivity rate was more frequent in thymomas. This study indicates that clinico-radiological evaluation adequately supported by serology and histopathology can effectively recognize the type of thymic pathology that can guide these patients' treatment planning, management, prognosis and follow-up.