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Background: Recently, TANK binding kinase 1 (TBK1) mutation has been reported as a causative gene for overlap frontotemporal dementia (FTD)‐amyotrophic lateral sclerosis (ALS) syndrome. However, there are no reports from families of South Asian ethnicity. Objective: To report a case study of a family with the proband having overlap FTD‐ALS syndrome caused by a novel TBK1 variant. Materials and methods: Clinical, brain imaging, genetic analysis and laboratory data of the patient with FTD‐ALS were performed. In addition, family‐based segregation analysis of identified novel variants was also done. Results: This study pertains to genetic analysis in 11 members in a family with only one member affected with overlap FTD‐ALS syndrome. The whole‐exome sequencing analysis in the symptomatic member showed a novel loss‐of‐function (LoF) variant c.1810G>T(p.E604X) in the TBK1 gene. Neuroimaging showed a pattern of asymmetric frontotemporal atrophy and hypometabolism. Segregation analysis of the variation demonstrated its presence in several family members, although none of the other members was symptomatic. Further, we observed another missense variation in the NEFH gene (p.Pro683Leu) which was seen in the symptomatic and two asymptomatic family members, the pathogenicity of which is unclear. Conclusion: This is the first study of a rare novel TBK1 variant associated with FTD‐ALS from India. Asymptomatic family members with the variant have important clinical implications and necessitate the genetic evaluation and long‐term follow‐up of family members of patients detected with TBK1 mutations. Therefore, although infrequent, genetic screening for the TBK1 gene should be considered when encountering overlap FTD syndromes. [ABSTRACT FROM AUTHOR]

The purpose of the study was to identify children at our institute who possibly suffered abusive head trauma (AHT). A retrospective study of CT imaging of children between one month to three years of age between January 2013 and May 2021 was carried out at a dedicated neurocentre in Southern India. We identified 48 cases of possible AHT. The demographics, clinical features at presentation, imaging and fundus findings were analyzed. Imaging revealed subdural hemorrhage (SDH) in 42 and sub dural effusion (SDE) in 5 cases, one case had only hypoxia. The location of SDH was studied as was hypoxia underlying SDH, global hypoxia and ischemia. Cases of subarachnoid hemorrhage (SAH), parenchymal hematoma & intraventricular hemorrhage (IVH) were also noted. Skeletal survey, chest X-ray and CT spine were reviewed. AHT needs to be paid attention to in the Indian scenario. An extensive work up is required to substantiate the claim and to work on prevention & management of these cases subsequently. [ABSTRACT FROM AUTHOR]

The article presents case studies highlighting the varied clinical and radiological findings in Contrast‑induced encephalopathy (CIE) and underscore the favourable outcome in such cases. It mentions complication of iodinated contrast media (ICM) use which associated with cardiac catheterization; and also mentions Clinical features of CIE include transient cortical blindness.

Purpose: To review management, clinical and imaging outcomes of dissecting posterior cerebral artery (PCA) aneurysms with emphasis on endovascular management in the form of parent vessel occlusion (PVO) at a tertiary care center. Methods: Thirty-six dissecting PCA aneurysms (19 ruptured) encountered at our center between January 2013 and November 2019 were reviewed for aneurysm location/size/presence of fetal PCA/management. Postprocedural imaging of patients who underwent endovascular intervention was reviewed for PCA territory infarcts and clinical records assessed for presence of neuro-deficits and outcome. None of the patients underwent a balloon test occlusion (BTO) prior to PVO. Results: The location of the aneurysms was as follows-P1 = 8/P1-P2 = 11/P2 = 5/P2-P3 = 10/P3 = 2. The mean size was 11.7x6.8 mm. Endovascular intervention was carried out in 20 patients in the form of PVO with coiling in 16 patients, coiling alone in 3 patients, and reconstruction of the left PCA with flow diverter deployment in one patient. Postprocedural PCA territory infarct was seen in 5 cases of PVO out of which 4 had a good functional recovery. Overall, 15/16 patients (93.7%) who underwent PVO had mRS ≤ 2 on follow-up. The single case with flow diverter also developed an infarct and had adverse outcome on follow up. Conclusion: Among the various management strategies for dissecting PCA aneurysms, PVO is feasible and relatively safe even in absence of BTO in scenarios like critically ill patients with ruptured aneurysms, difficult access and financial constraints. Thromboembolic complications and antiplatelet therapy is a concern in reconstructive strategies. [ABSTRACT FROM AUTHOR]

Hypertrophic olivary degeneration is caused by a lesion in the triangle of Guillain and Mollaret. It presents clinically as palatal myoclonus, ataxia, hemiparesis and tremor. MRI demonstrates T2 hyper-intensity and hypertrophy of the inferior olivary nucleus. We present a case of hypertrophic olivary degeneration associated with a pontine cavernoma. [ABSTRACT FROM AUTHOR]