Clinicodemographic profile, management, and treatment outcomes in advanced retinoblastoma at a tertiary care center in North India.

PURPOSE: The study was undertaken to look into the clinicodemographic profile, management, and clinical outcomes of advanced retinoblastoma at a tertiary care center. METHODS: A prospective cohort study was conducted from Jan 2019 to Dec 2022. Forty-two patients of intraocular advanced retinoblastoma were assessed. The treatment protocol was formulated based on size, extension of tumor, and laterality. Primary outcome measure was response to the treatment in terms of regression of tumor and seeds and no evidence of recurrence after 12 month in enucleated eyes. Secondary outcome measures were complications like implant exposure, metastasis, and death associated with each treatment modality. RESULTS: The mean age of the study group was 13 months. The most common presentation was leukocoria with diminished vision. Most of the patients had group E retinoblastoma ( n = 40, 95%) as per the International Classification of Retinoblastoma. In 12 patients with group E retinoblastoma, primary enucleation was performed and in six patients, secondary enucleation was done, in which initially, globe salvage treatment was tried. In 30 patients, globe salvage treatment was attempted and we could manage to save 23 eyes. The most common treatment modality was intra-arterial chemotherapy using a triple-drug regimen. One patient developed intracranial spread and died due to systemic metastasis during the follow-up period. CONCLUSION: The current study showed that globe salvage is possible in advanced retinoblastoma if appropriate therapy is instituted depending upon the extent of the tumor and availability of latest treatment modalities. Intra-arterial chemotherapy using triple drugs can be offered as a first-line therapy in advanced unilateral retinoblastoma as it has been found to be very effective in the present study.

Correlation of CT perfusion with MRI brain in symptomatic carotid artery stenosis.

Background: Cerebral white matter disease and large vessel cerebral steno-occlusive are both associated with high incidence of strokes and mortality. There is a lack of literature correlating the cerebral perfusion downstream of a stenotic lesion with white matter changes in the cerebral hemispheres. The aim of this study was to correlate the white matter changes in magnetic resonance imaging (MRI) with computed tomography (CT) perfusion parameters in patients with symptomatic carotid stenosis. Methods: A total of 50 patients with symptomatic carotid stenosis underwent MRI brain and CT Perfusion. Percentage differences in cerebral blood flow (CBF) and mean transit time (MTT) were correlated with symmetric and asymmetric small vessel ischemic disease (SVID) on MRI. Receiver operating characteristic (ROC) curve analysis was performed to determine sensitivity and specificity for different values of percentage CBF and MTT difference. Results: A total of 17 patients with symmetrical SVID had a mean CBF difference of 6.58 (SD of 3.17) and mean MTT difference of 11.61 (SD of 4.32). 33 patients with asymmetrical SVID had a mean CBF difference of 34.73 (SD of 6.87) and mean MTT difference of 44.63 (SD of 9.12). ROC curve analysis showed percentage CBF and MTT differences of 12.5% and 26.5% respectively to be associated with 100% specificity and sensitivity. Conclusion: In patients with symptomatic carotid stenosis, CT perfusion parameters correlate with MRI features of SVID.

An unusual case of eosinophilia, myalgia and skin contractures: Shulman's disease revisited.

Shulman's disease (eosinophilic fasciitis) is a very rare autoimmune disorder with an unknown etiopathogenesis. During the initial period of disease, it usually causes limb and trunk edema followed by collagenous thickening of the subcutaneous fascia. Eosinophilia is a predominant laboratory finding during the initial phase of the disease and less prominent in the later phases. Patients may also present with arthritis, myositis, peripheral neuropathy, and rarely pleuropericarditis. Here, we are reporting a case of eosinophilic fasciitis presenting with vague constitutional symptoms, fever, and peripheral blood eosinophilia followed by rapidly evolving skin tightening with joint contractures and muscle stiffness, which misled the treating team toward Scleroderma and its overlap syndromes. The diagnosis was finally clinched by a full-thickness skin biopsy along with underlying fascia and muscle tissue from an effected area, with a gratifying treatment response to standard immune suppression.

Pulmonary cavitation in follow-up COVID 2019 cases: An etiological perspective.

Background: The current COVID-19 pandemic is an ongoing global healthcare challenge that has caused morbidity and mortality at unprecedented levels. Since the post-COVID pulmonary complications are evolving and challenging, a study was carried out to assess pulmonary cavitation in follow-up COVID cases from an etiological perspective. The aim of this study was to assess the incidence of pulmonary cavitation and describe its etiology and evolution in moderate and severe post-COVID pneumonia patients. Methods: A prospective observational study of all patients admitted to our institution with moderate or severe COVID pneumonia was carried out. Some of these patients again became symptomatic after discharge and developed pulmonary cavitation on imaging. Results: 6.2% (n = 37) out of 589 patients admitted to our institution with moderate or severe COVID pneumonia developed pulmonary cavitation on follow-up. We describe the imaging characteristics of post-COVID cavitation and present these patients' clinical, laboratory, and microbiological parameters. Conclusion: Cavitary lung disease in patients with moderate to severe COVID-19 disease is not uncommon, and an etiological workup is necessary to institute timely and correct therapy.

Clinical and molecular spectrum associated with Polymerase-γ related disorders.

BACKGROUND: POLG pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in POLG-related disorders are sparse. This study maps the clinicogenetic spectrum of POLG-related disorders in the pediatric population. METHODS: Individuals were recruited across 6 centers in India. Children diagnosed between January 2015 and August 2020 with pathogenic or likely pathogenic POLG variants and age of onset <15 years were eligible. Phenotypically, patients were categorized into Alpers-Huttenlocher syndrome; myocerebrohepatopathy syndrome; myoclonic epilepsy, myopathy, and sensory ataxia; ataxia-neuropathy spectrum; Leigh disease; and autosomal dominant / recessive progressive external ophthalmoplegia. RESULTS: A total of 3729 genetic reports and 4256 hospital records were screened. Twenty-two patients with pathogenic variants were included. Phenotypically, patients were classifiable into Alpers-Huttenlocher syndrome (8/22; 36.4%), progressive external ophthalmoplegia (8/22; 36.4%), Leigh disease (2/22; 9.1%), ataxia-neuropathy spectrum (2/22; 9.1%), and unclassified (2/22; 9.1%). The prominent clinical manifestations included developmental delay (n = 14; 63.7%), neuroregression (n = 14; 63.7%), encephalopathy (n = 11; 50%), epilepsy (n = 11; 50%), ophthalmoplegia (n = 8; 36.4%), and liver dysfunction (n = 8; 36.4%). Forty-four pathogenic variants were identified at 13 loci, and these were clustered at exonuclease (18/44; 40.9%), linker (13/44; 29.5%), polymerase (10/44; 22.7%), and N-terminal domains (3/44; 6.8%). Genotype-phenotype analysis suggested that serious outcomes including neuroregression (odds ratio [OR] 11, 95% CI 2.5, 41), epilepsy (OR 9, 95% CI 2.4, 39), encephalopathy (OR 5.7, 95% CI 1.4, 19), and hepatic dysfunction (OR 4.6, 95% CI 21.3, 15) were associated with at least 1 variant involving linker or polymerase domain. CONCLUSIONS: We describe the clinical subgroups and their associations with different POLG domains. These can aid in the development of follow-up and management strategies of presymptomatic individuals.

Child survivor of rabies in India: a case report.

A 4-year-old boy was admitted with an acute onset fever for 4 days and drowsiness for 3 days, followed by progressive flaccid weakness of both lower limbs and encephalopathy soon after admission. He had sustained a WHO Class III stray dog bite 2 weeks previously and had received three doses of post-exposure rabies vaccination with purified vero cell vaccine but not rabies immunoglobulin. He was diagnosed with rabies based on the presence of rabies virus neutralising antibody in CSF (Day 1 1:128 and Day 26 1:2048) and typical findings on neuro-imaging. Rabies viral RNA was not detected in CSF, in saliva or on nuchal skin. The child survived with supportive treatment alone but he has extensive neurological sequelae. This report demonstrates the detailed clinico-investigative profile of a child who survived rabies following inadequate post-exposure prophylaxis and adds to the sparse knowledge of this usually fatal condition. ABBREVIATIONS: ADEM, acute disseminated encephalomyelitis; CBNAAT, cartridge-based nucleic acid amplification test; CSF, cerebrospinal fluid; EEG, electroencephalogram; GCS, Glasgow coma scale; EVM, eye opening, best verbal response, best motor response; IM, intramuscular; IVIg, intravenous immunoglobulin; MRC, Medical Research Council; MRI/FLAIR, magnetic resonance imaging/fluid attenuation inversion recovery; PCR, polymerase chain reaction; RFFIT, rapid fluorescent focus inhibition test; RIg, rabies immunoglobulin; RNA, ribonucleic acid; WBC, white blood cells; WHO, World Health Organization.

Risk factors of white matter hyperintensities in South Asian patients with transient ischemic attack and minor stroke.

PURPOSE: Aging and increased burden of cardiovascular risk factors are associated with severity of white matter hyperintensity (WMH). We assessed the burden and risk factor profile of WMHs in South Asian patients with transient ischemic attack (TIA) and minor stroke. METHODS: Patients with acute ischemic stroke with the National Institute of Health stroke scale (NIHSS) score ≤ 5 who underwent MRI were included. The severity of WMHs was assessed based on age-related white matter change (ARWMC) scale (0-30). A score of > 8 or more was considered moderate-severe involvement. Logistic regression analysis was performed to assess the association with risk factors. RESULTS: A total of 424 patients with a mean ± SD age of 57.4 ± 14.5 years [females, 108 (25.5%)] were analyzed. Fifty-four (12.7%) patients had moderate or severe WMHs (ARWMC score > 8). Age (OR 1.03, 95% CI 1.01-1.06; p = 0.004), hypertension (OR 2.3, 95% CI 1.1-5.1; p = 0.03) and smoking tobacco (OR 2.8, 95% CI 1.4-5.6; p = 0.003) were independently associated with ARWMC score > 8. The median (IQR) regional score in patients with ARWMC score > 8 was maximum in frontal areas 4 (4-6, p < 0.0001) and parietooccipital areas 4.5(4-6, p < 0.0001). The presence of microbleeds (OR 6.3, 95% CI 3.1-12.7; p < 0.0001) was independently associated with ARWMC score > 8. CONCLUSION: South Asian patients with TIA and minor stroke are relatively young, and few patients have moderate and severe WMHs. Hypertension and tobacco smoking increases the risk of WMH. Targeting modifiable risk factors may reduce the burden of WMHs and vascular dementia.

Republished: Primary intraventricular haemorrhage due to rupture of giant varix of the basal vein of Rosenthal in a patient with long-standing direct CCF: angiographic features and treatment considerations.

Direct carotid cavernous fistulae (CCF) are often detected early and treated promptly resulting in a paucity of literature regarding its long-term evolution. We present a case of high flow post-traumatic direct CCF that was neglected for over 6 years and presented with a rare manifestation of primary intraventricular haemorrhage. Occlusions of the primary venous outlets likely resulted in engorgement of the deep venous system. The segmental anatomy of the shunting basal vein is critical to the clinical presentation and may range from basal ganglia or brainstem oedema/infarctions to uniquely, as in our case, isolated intraventricular haemorrhage secondary to variceal rupture. Treatment in such chronic cases requires a consideration of cerebral hyperperfusion syndrome necessitating deconstructive techniques with subsequent anticoagulation to avoid accelerated thrombosis of the venous varices.

Single centre experience of flow diverter treatment of complex intracranial aneurysms from South India: Intermediate and long-term outcomes.

BACKGROUND AND PURPOSE: To report the intermediate and long-term clinical and angiographic outcomes of the treatment of complex intracranial aneurysms with flow diverter (FD) stents. SETTING: A tertiary care centre from south India. MATERIALS AND METHODS: Patients treated with FD stents were retrospectively analyzed. The clinical demographics, technical success, angiographic, and long-term outcomes were recorded. RESULTS: A total of 13 patients underwent FD treatment, in whom 11 procedures were successful. The cohort included large or giant intracranial aneurysms and recurrent aneurysms following conventional endovascular treatment. Major morbidity was observed in 1 patient, who developed basal ganglia bleed that needed evacuation. Minor complications were seen in 36% of patients without clinical sequelae. Significant obliteration of aneurysm was noted on 1 month computed tomography angiogram in >80% of the patients. Angiographic complete obliteration was noted in 89% of the patients at 6 months. Cranial nerve deficits were noted in 2 patients that improved on subsequent follow up. There was no mortality observed in this cohort. CONCLUSION: FD treatment of complex cerebral aneurysms was associated with favorable clinical and angiographic outcomes in the intermediate and long-term follow up. Minor complications were common, which needed to be effectively managed to prevent major catastrophic events. The steep learning curve influenced the technical success of the procedure.

A Study on the Clinical and Angiographic Spectrum of Spontaneous Extracranial Dissections in the Cerebral Vasculature.

AIM: To prospectively study the clinical profile, angiographic features, and functional outcomes, in consecutive cases of extracranial dissection seen at two tertiary stroke care centers in South India. MATERIALS AND METHODS: In this observational study, spanning 4 years (December 12-December 16), a total of 442 patients presented with an acute ischemic stroke/transient ischemic attack (TIA) at our study centers. 14/546 (3.2%) of these patients had magnetic resonance angiography (MRA)/computed tomography angiography (CTA) evidence of extracranial dissections. All cases underwent detailed clinical evaluation on arrival, and data were recorded on a predesigned stroke pro forma. Contrast MRA was done on arrival in all cases as part of a standard stroke protocol, and CTA was done only if MRA was inconclusive. The pattern of the vessel involved and morphology of vessel dissection was analyzed as per a standard radiology protocol. All the cases were managed with short-term anticoagulation using low-molecular-weight heparin followed by oral anticoagulants for 3-6 months. All cases were followed up for 1-2 years and the functional outcomes were recorded using the modified Rankin Scale (mRS). RESULTS: There were 11 males and 3 females in the study, and the mean age was 45.1 years (range = 27-65 years). Focal neurological symptoms occurred in all these patients (10 patients had a stroke, and 4 had TIA). Nearly 64.2% of these (9/14) were stroke in young (age <45 years). The internal carotid artery was the most common vessel involved in 85.7% (12/14) cases. Of the ten patients with completed stroke, a good functional outcome (mRS 1-2) was seen in 8/10 (80%). Digital subtraction angiography and revascularization procedures were needed only in a minority of cases 3/14 (21%).\. CONCLUSION: This hospital-based study highlights the importance of suspecting arterial dissections in young strokes of unexplained etiology, and offering optimum anticoagulant therapy in the acute phase, to achieve good long-term outcomes.

Primary intraventricular haemorrhage due to rupture of giant varix of the basal vein of Rosenthal in a patient with long-standing direct CCF: angiographic features and treatment considerations.

Direct carotid cavernous fistulae (CCF) are often detected early and treated promptly resulting in a paucity of literature regarding its long-term evolution. We present a case of high flow post-traumatic direct CCF that was neglected for over 6 years and presented with a rare manifestation of primary intraventricular haemorrhage. Occlusions of the primary venous outlets likely resulted in engorgement of the deep venous system. The segmental anatomy of the shunting basal vein is critical to the clinical presentation and may range from basal ganglia or brainstem oedema/infarctions to uniquely, as in our case, isolated intraventricular haemorrhage secondary to variceal rupture. Treatment in such chronic cases requires a consideration of cerebral hyperperfusion syndrome necessitating deconstructive techniques with subsequent anticoagulation to avoid accelerated thrombosis of the venous varices.

Skull Base Osseous Arteriovenous Fistula-A Rare Clinical Entity: Case Report and Literature Review.

PURPOSE: To describe a rare clinical entity of intraosseous skull base arteriovenous fistula managed with transvenous fistula embolization. CASE PRESENTATION: A 57-year-old woman presented with complaints of headache and episodic tinnitus with progressive left-sided visual deterioration. Cross-sectional imaging of the head revealed multiple vascular channels in the sphenoid bone and in bilateral masticator spaces. Catheter angiography showed the presence of a large osseous arteriovenous fistula epicentered in the body of sphenoid and left pterygoid plates with arterial feeders from bilateral external carotid arteries and venous drainage into bilateral cavernous sinuses and the pterygoid venous plexus. She was managed by transvenous coil and liquid embolic agent (Squid 18) embolization of the venous sac with significant reduction of shunt. In the postprocedure period, the patient developed paradoxical worsening of symptoms due to central retinal vein occlusion. CONCLUSIONS: Skull base osseous fistulae are uncommon clinical entities and fistulae centered within the sphenoid bone are very rare. The aim of this report was to highlight management issues associated with such a case and review the available literature on the subject.

Noncontrast Computed Tomography versus Computed Tomography Angiography Source Images for Predicting Final Infarct Size in Anterior Circulation Acute Ischemic Stroke: a Prospective Cohort Study.

BACKGROUND: There has been a recent debate regarding the superiority of computed tomography angiography source images (CTASIs) over noncontrast computed tomography (NCCT) to predict the final infarct size in acute ischemic stroke (AIS). We hypothesized that the parenchymal abnormality on CTASI in faster scanners would overestimate ischemic core. METHODS: This prospective study assessed the correlation of Alberta Stroke Program Early CT Score (ASPECTS) on NCCT, CTASI, and computed tomography perfusion (CTP) with final infarct size in patients within 8 hours of AIS. Follow-up with NCCT or diffusion-weighted magnetic resonance imaging (MRI) was performed at 24 hours. Correlations of NCCT and CTASI with final infarct size and with CTP parameters were assessed. Subgroup analysis was performed in patients who underwent intravenous thrombolysis or mechanical thrombectomy. Inter-rater reliability was tested using Spearman's rank correlation. A P value less than .05 was considered statistically significant. RESULTS: A total of 105 patients were included in the final analysis. NCCT had a stronger correlation with the final infarct size than did CTASI (Spearman's ρ = .85 versus .78, P = .13). We found an overestimation of the final infarct size by CTASI in 47.6% of the cases, whereas NCCT underestimated infarct size in 60% of the patients. NCCT correlated most strongly with CBV (ρ = .93), whereas CTASI correlated most strongly with CBF (ρ = .87). Subgroup analysis showed less correlation of CTASI with final infarct size in the group that received thrombolysis versus the group that did not (ρ = .70 versus .88, P = .01). CONCLUSION: In a 256-slice scanner, the CTASI parenchymal abnormality includes ischemic penumbra and thus overestimates final infarct size-this could result in inappropriate exclusion of patients from thrombolysis or thrombectomy.

MRI and MR tractography in bilateral hypertrophic olivary degeneration.

Hypertrophic olivary degeneration is a trans-synaptic neuronal degeneration associated with hypertrophy of the inferior olivary nucleus due to a lesion in the triangle of Guillain-Mollaret. Familiarity with this entity on magnetic resonance imaging (MRI) is essential to avoid other erroneous ominous diagnoses. We present a case of bilateral hypertrophic olivary degeneration and discuss the etiopathogenesis and MRI findings in this entity. The contributory role of MR tractography in the diagnosis is also highlighted.

Intravenous urography supplemented with computerised tomography urogram: A pragmatic hybrid imaging approach to hydronephrosis.

BACKGROUND: Image quality in an Intravenous Urogram (IVU) can occasionally be compromised by variables like bowel preparation, renal function and radiographic factors, posing a challenge to all Uroradiologists. The Computerised Tomography Urogram (CTU) yields better diagnostic information than an IVU, due to its inherent superior anatomic delineation and contrast sensitivity, against a trade-off involving radiation dose and cost. Our study was conducted to assess the utility and timing of performing a single-phase CTU, as a problem-solving tool, to clear the diagnostic dilemma in a selected subset of patients, in whom an ongoing IVU could potentially be inconclusive. MATERIAL AND METHODS: Five hundred and twelve patients who underwent IVU studies for urologic referrals at a tertiary care hospital, during the period of January to December 2009, formed the subject of the study, of whom 33 patients with inconclusive IVU findings after the first three radiographs underwent a single-phase CTU, to reach definitive imaging diagnoses. RESULTS: The percentage of inconclusive IVU studies amounted to only 33 / 512 (6.4%), in whom a CTU study revealed definitive diagnoses in 30 patients and no abnormality in three patients, thus conclusively clearing the ambiguities raised on the IVU in all the selected patients. CONCLUSIONS: The concept of a CTU limited to a single-phase study to supplement an inconclusive IVU optimizes the contrast and radiation dose to the affected patients. It is a cost-effective, timely, and definitive 'imaging intervention' and should be considered a viable hybrid technique to be utilized selectively and judiciously.