Corneal Confocal Microscopy Abnormalities in Children and Adolescents With Type 1 Diabetes.

OBJECTIVE: Utility of corneal confocal microscopy (CCM) in children and adolescents with type 1 diabetes mellitus (T1DM) without neuropathic symptoms or signs and minimal abnormality in large and small nerve fiber function tests remains largely undetermined. This study aimed to evaluate the performance of CCM in comparison to thermal detection thresholds (TDT) testing and nerve conduction studies (NCS) for detecting neuropathy in children with T1DM. METHODS: A cohort of children and adolescents with T1DM (n = 51) and healthy controls (n = 50) underwent evaluation for symptoms and signs of neurological deficits, including warm detection threshold, cold detection threshold, vibration perception threshold, NCS, and CCM. RESULTS: Children with T1DM had no or very minimal neuropathic symptoms and deficits based on the Toronto Clinical Neuropathy Score, yet NCS abnormalities were present in 18 (35%), small fiber dysfunction defined by an abnormal TDT was found in 13 (25.5%) and CCM abnormalities were present in 25 (49%). CCM was abnormal in a majority of T1DM children with abnormal TDT (12/13, 92%) and abnormal NCS (16/18, 88%). CCM additionally was able to detect small fiber abnormalities in 13/38 (34%) in T1DM with a normal TDT and in 9/33 (27%) with normal NCS. CONCLUSION: CCM was able to detect corneal nerve loss in children with and without abnormalities in TDT and NCS.

Acute onset movement disorders in diabetes mellitus: A clinical series of 59 patients.

BACKGROUND AND PURPOSE: No previous study has assessed the frequency and clinical-radiological characteristics of patients with diabetes mellitus (DM) and acute onset nonchoreic and nonballistic movements. We conducted a prospective study to investigate the spectrum of acute onset movement disorders in DM. METHODS: We recruited all the patients with acute onset movement disorders and hyperglycemia who attended the wards of three hospitals in West Bengal, India from August 2014 to July 2021. RESULTS: Among the 59 patients (mean age = 55.4 ± 14.3 years, 52.5% men) who were included, 41 (69.5%) had choreic or ballistic movements, and 18 (30.5%) had nonchoreic and nonballistic movements. Ballism was the most common movement disorder (n = 18, 30.5%), followed by pure chorea (n = 15, 25.4%), choreoathetosis (n = 8, 13.6%), tremor (n = 5, 8.5%), hemifacial spasm (n = 3, 5.1%), parkinsonism (n = 3, 5.1%), myoclonus (n = 3, 5.1%), dystonia (n = 2, 3.4%), and restless leg syndrome (n = 2, 3.4%). The mean duration of DM was 9.8 ± 11.4 years (89.8% of the patients had type 2 DM). Nonketotic hyperglycemia was frequently (76.3%) detected. The majority (55.9%) had no magnetic resonance imaging (MRI) changes; the remaining showed striatal hyperintensity. Eight patients with MRI changes exhibited discordance with sidedness of movements. Most of the patients (76.3%) recovered completely. CONCLUSIONS: This is the largest clinical series depicting the clinical-radiological spectrum of acute onset movement disorders in DM. Of note was that almost one third of patients had nonchoreic and nonballistic movements. Our findings highlight the importance of a capillary blood glucose measurement in patients with acute or subacute onset movement disorders, irrespective of their past glycemic status.

Clinical features, MRI brain, and MRS abnormalities of drug-naïve neurologic Wilson's disease.

BACKGROUND: Magnetic resonance imaging (MRI) helps in the diagnosis of neurologic Wilson's disease (WD). The literature regarding MR spectroscopy (MRS) and diffusion-weighted imaging (DWI) in WD is limited. OBJECTIVES: To evaluate the clinical features and neuroimaging findings in drug-naïve neurologic WD and to find correlation between clinical stage and disease duration with different imaging findings. MATERIALS AND METHODS: The study subjects included consecutive and follow-up neurologic WD patients attending movement disorder clinic. The initial clinical and MRI features before commencement of chelation therapy were noted. Of 78 patients, 34 underwent DWI study and MRS was done in 38 patients and in 32 control subjects. RESULTS: Dystonia, dysarthria, tremor, and behavioral abnormality were common presenting features. All patients had MRI abnormality with major affection of basal ganglia. The clinical severity and anatomical extent of MRI abnormalities were positively correlated (P < 0.001; r s = 0.709). Presence of diffusion restriction was inversely related to duration of disease (P < 0.001; r s = 0.760). WD patients had reduced N-acetylaspartate/creatine (Cr) and choline (Cho)/Cr ratio (P < 0.001) as compared with control subjects in MRS study. CONCLUSION: Dystonia, dysarthria and tremor are common neurological features of WD. In this study, MRI abnormalities were positively correlated with disease severity; diffusion restriction was inversely correlated with the duration of the disease process. MRS was also a sensitive tool for diagnosing patient of neurologic WD.

Diabetic striatopathy and other acute onset de novo movement disorders in hyperglycemia.

BACKGROUND AND AIMS: Acute onset de novo movement disorder is an increasingly recognized, yet undereported complication of diabetes. Hyperglycemia can give rise to a range of different movement disorders, hemichorea-hemiballism being the commonest. This article delves into the current knowledge about this condition, its diverse presentations, ongoing debates regarding its underlying mechanisms, disparities between clinical and radiological findings, and challenges related to its management. METHODS: PubMed and Google Scholar were searched with the following key terms- "diabetes", "striatopathy", "hyperglycemia", "striatum", "basal ganglia", "movement disorder", "involuntary movement". Case reports, systematic reviews, meta-analysis, and narrative reviews published in English literature related to the topic of interest from January 1, 1950, to October 20, 2023, were retrieved. The references cited in the chosen articles were also examined, and those considered relevant were included in the review. RESULTS: Diabetic striatopathy is the prototype of movement disorders associated with hyperglycemia with its characteristic neuroimaging feature (contralateral striatal hyperdensitity on computed tomography or hyperintensity on T1-weighted magnetic resonance imaging). Risk factors for diabetic striatopathy includes Asian ethnicity, female gender, prolonged poor glycemic control, and concurrent retinopathy. Several hypotheses have been proposed to explain the pathophysiology of movement disorders induced by hyperglycemia. These hypotheses are not mutually exclusive; instead, they represent interconnected pathways contributing to the development of this unique condition. While the most prominent clinical feature of diabetic striatopathy is a movement disorder, its phenotypic expression has been found to extend to other manifestations, including stroke, seizures, and cognitive and behavioral symptoms. Fortunately, the prognosis for diabetic striatopathy is generally excellent, with complete resolution achievable through the use of anti-hyperglycemic therapy alone or in combination with neuroleptic medications. CONCLUSION: Hyperglycemia is the commonest cause of acute onset de novo movement disorders presenting to a range of medical specialists. So, it is of utmost importance that the physicians irrespective of their speciality remain aware of this clinical entity and check blood glucose at presentation before ordering any other investigations. Prompt clinical diagnosis of this condition and implementation of intensive glycemic control can yield significant benefits for patients.

Mitochondrial Calcium Uptake 1 (MICU1) Gene-Related Myopathy with Extrapyramidal Signs: A Clinico-Radiological Case Report from India.

Myopathy with extrapyramidal signs (MPXPS) is a rarely reported entity worldwide, manifesting as a muscular dystrophy with movement disorders. It results from mutations in the mitochondrial calcium uptake 1 (MICU1) gene. We hereby describe a 17-year-old boy who presented with proximal myopathy, calf muscle hypertrophy, and skeletal deformities along with choreiform movements of his upper extremities. Muscle MRI revealed a distinctively early involvement of adductors with sparing of antero-lateral compartment of thigh. This report expands the clinico-radiological presentation and to the best of our knowledge, is the first report of MICU-related MPXPS from India.

Profile of precipitating factors and its implication in 160 Indian patients with Moyamoya angiopathy.

INTRODUCTION: Moyamoya angiopathy (MMA) has been known to manifest with myriad of neurological manifestations, often in association with various precipitating factors. This is the first study to systematically analyze the precipitating triggers to neurological symptoms done on the largest cohort of MMA in India. METHODS: A single-centered, cross-sectional observational study, recruiting 160 patients with consecutive angiographically proven MMA over a period of 5 years (2016-2021), was undertaken to evaluate the profile of immediate precipitating factors in temporal association to the neurological symptoms, along with their clinical and radiological characteristics. SPSS 25 was used for statistical analysis. RESULTS: Among the 160 patients (Adult-85, children-75), precipitating factors were seen in 41.3%, significantly higher in children (52%) than adults (31.8%) (p value: 0.011). The commonest triggers included fever (18.8%), emotional stress (8.1%), heavy exercise and diarrhea (6.3% each). Cold bath triggered MMA symptoms in 1.3%. Fever (p value: 0.008) and persistent crying (p value: 0.010) triggered neurological symptoms more commonly in children than in adults. Amongst MMA patients with precipitating factors, the commonest MMA presentation included cerebral infarction type (37.9%) and TIA (31.8%). The majority of precipitating factors that preceded an ischemic event were BP-lowing ones (54.7%). CONCLUSION: Neurological symptoms of MMA are commonly associated with several precipitating factors, including the lesser known triggers like cold bath. The frequency and profile precipitating factors varies with the age of presentation and type of MMA. It can serve as an early clue to the diagnosis of MMA and its careful avoidance can be largely beneficial in limiting the distressing transient neurological symptoms.

High-resolution vessel wall magnetic resonance imaging in intracranial vasculopathies: an experience from eastern India.

OBJECTIVE: To evaluate the role of high-resolution intracranial vessel wall imaging (HR-IVWI) in differentiation of various intracranial vasculopathies in addition to luminal and clinical imaging in the largest cohort of Indian stroke patients. METHODS: A single-center, cross-sectional study was undertaken recruiting consecutive stroke or TIA patients presenting within a month of onset, with luminal irregularity/narrowing upstream from the stroke territory. The patients were initially classified into TOAST and Chinese ischemic stroke sub-classification (CISS) on the basis of clinical and luminal characteristics and reclassified again following incorporation of HR-IVWI findings. RESULTS: In our cohort of 150 patients, additional use of HR-IVWI led to a 10.7 and 14% change in initial TOAST and CISS classification respectively (p < 0.001). In TOAST classification, 12 "undetermined aetiology" were reclassified into intracranial atherosclerotic disease (ICAD), 1 "undetermined aetiology" into CNS angiitis and 1 "undetermined aetiology" into arterial dissection. Similarly, in CISS 19 "undetermined aetiology" was reclassified into 16 large artery atherosclerosis (LAA) and 3 "other aetiology" consisting of one CNS angiitis, Moyamoya disease (MMD) and arterial dissection each. Two initial classification of MMD by CISS and TOAST were changed into ICAD. The observed change in diagnosis following incorporation of HR-IVWI was proportionately highest in ICAD (LAA) subgroup (TOAST-9.3%, CISS-12%). CONCLUSION: Adjunctive use of HR-IVWI, to clinical and luminal assessment, can significantly improve diagnostic accuracy during evaluation of intracranial vasculopathies, with its greatest utility in diagnosing in ICAD, CNS angiitis and dissection. ADVANCES IN KNOWLEDGE: HR-IVWI allows clearer etiological distinction of intracranial vasculopathies having therapeutic and prognostic implications.

Expanding the Spectrum of Diabetic Striatopathy: Insights from a Case of Hyperglycemia-Induced Propriospinal Myoclonus.

This video abstract delves into the expanded definition of diabetic striatopathy, linked initially to hyperglycemia-induced choreoballism and striatal hyperintensity on magnetic resonance imaging, but now recognized to encompass a broader range of acute onset, non-choreoballistic movement disorders in diabetes mellitus, including tremors, hemifacial spasm, parkinsonism, different types of myoclonus, dystonia, restless leg syndrome, ataxia, and dyskinesias. We report the case of a 45-year-old female patient with type-2 diabetes mellitus who developed propriospinal myoclonus, characterized by painless, involuntary jerky movements of the bilateral lower limbs in a supine position after admission for suspected rhino-orbital mucormycosis. The abnormal movements resolved entirely following the control of her blood glucose levels, suggesting a direct correlation between hyperglycemia and the clinical picture. This case highlights the importance of considering a wide range of differential diagnoses for abnormal lower limb movements in diabetic patients, emphasizing the need for accurate identification of movement semiology, routine bedside capillary blood glucose checks, and prompt hyperglycemia management to resolve such movement disorders effectively.

Central Retinal Artery Occlusion in COVID-Associated Mucormycosis.

Introduction: Significant surge of mucormycosis was reported in the Indian Subcontinent during the second wave of the COVID-19 pandemic. COVID-associated mucormycosis (CAM) was defined as the development of features of mucormycosis with prior or current history of COVID-19 infection. Rapid angioinvasion is an important characteristic of mucormycosis. Authors intended to find out the prevalence of retinal arterial occlusion and its association with vascular embolic occlusion elsewhere in the body among CAM patients in this study. Methods: This was an observational study. All consecutive-confirmed cases of mucormycosis (n = 89) and age-/gender-/risk factor-matched controls (n = 324) admitted in the designated COVID center were included in the study. All cases and controls underwent comprehensive ophthalmological, otorhinological, and neurological examinations. All necessary investigations to support the clinical diagnosis were done. Qualitative data were analyzed using the Chi-square test. Quantitative data for comparison of means between the cases and controls were done using unpaired t-test. Results: Twenty-one (23.59%) patients manifested the defined outcome of central retinal artery occlusion (CRAO). Among age-matched control, with similar diabetic status, none had developed the final outcome as defined (P < 0.05). About 90.47% of subjects with CRAO presented with no perception of light vision. Thirteen subjects (61.9%) with the final outcome developed clinical manifestations of stroke during the course of their illness with radiological evidence of watershed infarction (P = 0.001). Orbital debridement was performed in 9 (42.85%) subjects while orbital exenteration was done in 8 (38.09%) subjects. Conclusions: CRAO in CAM patients was found to have aggressive nature turning the eye blind in a very short period of time. CRAO can serve as a harbinger for subsequent development of more debilitating and life-threatening conditions such as stroke among CAM patients.

Psychosocial Basis of Human Sufferings and Poverty in Patients with Neurological and Psychiatric Disorders.

Neurological disorders and psychiatric ailments often lead to cognitive disabilities and low attainment of education, pivoting misconceptions, myths, and misbeliefs. Poverty and low educational attainment are intriguingly associated with poor awareness and perception of these diseases that add to the suffering. Poverty goes parallel with a low level of education and is intricately associated with neuropsychiatric ailments, which have the potential to spread transgenerationally. Robust education policies, proper government rules and regulations against the spread of disease-related myths and misconceptions, uplifting medical education in its true sense, voices against consanguinity, and programs to raise scientific perception about diseases can help to throw light at the end of this dark tunnel. In this article, the authors intend to 1) decipher the potential psychosocial basis of human suffering and poverty in patients with neurological and psychiatric disorders, and 2) discuss the apropos way-outs that would potentially mitigate suffering, and alleviate the economic burden and cognitive disabilities of families with neuropsychiatric diseases.

Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis.

Neuronal ceroid lipofuscinosis is a rare childhood neurodegenerative disease, classified under the spectrum of progressive myoclonic epilepsy (PME). Cognitive decline, seizures including myoclonus, vision loss and ataxia are the commonly described manifestations of this illness. While visual failure in this disease is largely attributed to retinal, macular degeneration and optic atrophy, with this index case, we report an atypical presentation in the form of higher order visual dysfunction. The pattern of cognitive regression has further been explored here with higher order visual dysfunction and language regression being the predominant manifestations, stemming from an involvement of bilateral occipitoparietal/occipitotemporal networks. Yet another unique feature of this case also lies in the occurrence of myoclonic-atonic seizure, a semiology rarely reported before in PME.

Multiple sclerosis and Moyamoya angiopathy: Mimic and misdiagnosis.

Moyamoya Angiopathy (MMA) is frequently not considered in differential diagnosis of Multiple Sclerosis (MS). This is the first study to prospectively analyze rate of misdiagnosis of MMA as MS and its clinical implications. Of the 160 angiographically proven MMA, 5 patients had an initial misdiagnosis of MS (3.13%). These 5 cases had female-predominance (80%).Out of the 5 cases, 4 cases (80%) presented with hemiparesis; 3 cases (60%) had an immediate precipitating factor. Radiologically, presence of both periventricular and juxtacortical white-matter-lesions was seen in 4 out of 5 cases (80%);none had infratentorial/spinal lesion, while all 5 cases had presence of "Ivy" sign and abnormal flow voids. Differentiation relies on careful evaluation of clinico-radiological features. MMA should be considered as a rare but important differential to MS.

Space occupying lesion presenting as Millard-Gubler syndrome.

Millard-Gubler syndrome (MGS) is a ventral pontine syndrome due to an ipsilateral involvement of abducens and facial nerve with a contralateral hemiparesis or hemiplegia. Although classically described as a vascular brainstem syndrome, various other aetiologies such as infection or demyelination may lead to MGS. In this case, a young female presented with MGS, which was attributed to a strategically located infective granuloma of the brainstem. In countries, where tuberculosis is still considered an endemic, central nervous system involvement due to tuberculosis may have protean manifestations.

Post-Varicella Neurological Complications: A Preliminary Observation from a Tertiary Care Centre of Eastern India.

Objectives: The objective of this study is to analyse detailed clinical presentations, imaging findings, and outcome in a series of 17 cases (n = 17) with neurological complications following acute varicella infection. Methods: It is an observational study on the patients who presented to the neurology outpatient department of our institute with neurological abnormalities following acute varicella infection within the last 3 months. Results: Neuroimaging, either computed tomography or magnetic resonance imaging, cerebrospinal fluid analysis, electroencephalography and nerve conduction studies were performed in all the patients along with other specialized investigations as per clinical context. The age of presentation varied from childhood to middle age (median age was 23 years) and range of clinical spectrum was also wide. Peripheral nervous system involvement was more common in the form of Guillain-Barré syndrome (29.4%) and isolated lower motor neuron facial nerve palsy (23.5%) compared to central nervous system (CNS) involvement. CNS involvement was documented in the form of ataxia (11.76%), myelopathy (17.6%), stroke (5.88%) and encephalitis (5.88%). Conclusion: Chickenpox is a common viral disease and most patients recover without any complication. Although rare, neurological complications following acute varicella infection may have myriad presentations ranging from lower motor neuron facial palsy to life-threatening encephalitis. Compared to other studies, varicella encephalitis and ataxia were not so common in our study group. Response to therapy was uniformly good except in the patients presenting with ataxia. Response was particularly good to central and peripheral demyelinating disorders.

Alien Limb Phenomenon After Diffuse Corpus Callosum Ischemic Stroke.

The alien limb is a phenomenon characterized by a cluster of clinical features wherein the limb behaves autonomously and as separated from a person's identity. We herein report a 36-year-old Indian female with multiple comorbidities who presented with recurrent episodes of limb-shaking transient ischemic attacks for 1 year, followed by left-sided hemiplegia. During recovering, the patient noticed a feeling that as if her left hand did not belong to herself and acted autonomously (alien limb phenomenon) along with visuospatial deficits. Magnetic resonance imaging of the brain revealed ischemic stroke diffusely involving corpus callosum. Magnetic resonance angiography was suggestive of compromised right-sided anterior circulation. This was corroborated by digital subtraction angiography that revealed reduced flow in right internal carotid artery. Diffuse infarction of the corpus callosum requires involvement of both the anterior and the posterior circulation. Due to the lack of clinical features suggestive of chronic internal carotid artery dissection, occlusive atherosclerotic disease of the anterior cerebral circulation associated with possible steal phenomenon from the posterior circulation was the most probable underlying mechanism for the callosal stroke. Steal phenomenon has been proposed as a compensatory mechanism in hemodynamically compromised ischemic parenchyma and it can explain the co-existence of anterior and posterior circulation strokes. This case also highlights how both anterior and posterior types of the alien limb phenomenon can co-exist in a background of vascular insult, resulting from intra-cranial atherosclerotic disease.

A video-based discussion of movement disorders in paediatric anti NMDAR encephalitis: A case series from Eastern India.

PURPOSE: The spectrum of movement disorders associated with anti N-Methyl-d-Aspartate-Receptor (NMDAR) encephalitis is myriad, particularly in children, possibilities of which were investigated from two tertiary care centres. METHODS: A retrospective study was conducted in two tertiary referral centres in Eastern India, analysing data of 8 paediatric patients diagnosed as anti NMDAR encephalitis, presenting with one or more movement disorders (MDs). RESULTS: All the patients were of Bengali ethnicity with a median age of 9 years (3-16 years) and with female predilection (62.5%). CSF pleocytosis was a common feature in all. Seizures were described in 62.5%% of patients with a solitary patient exhibiting abnormalities on brain imaging. 3 out of 8 (37.5%) of patients presented with a single MD while the remaining had more than one type. Oro-linguo-facial dyskinesias and dystonia (37.5% each) were the most common movement type followed by chorea (12.5%). Complex stereotypies, myoclonus and facial tics were noted in one patient each. All patients received pulse methyl prednisolone. Escalation to second line therapy in form of rituximab was done for 5 patients (62.5%). Following immunotherapy, hyperkinetic movements resolved in 50% of patients, with persistence of movements in one (12.5%). A mortality of 37.5% was noted. Median duration of follow up was 26 months, during which none of the patients had evidence of systemic neoplasm. CONCLUSION: MDs are a core feature of anti NMDAR encephalitis, particularly in the paediatric age group, understanding and characterization of which, is the key to early diagnosis and effective therapy.

Epidemiology of Moyamoya Angiopathy in Eastern India.

Introduction: Moyamoya angiopathy (MMA) is a chronic, progressive intracranial vasculopathy with variation in prevalence and clinical manifestations across different populations. This study was aimed to estimate the frequency of MMA as an etiology of stroke and its epidemiological features in the largest cohort of MMA patients in India. Method: A single-centered cross-sectional observational study over a period of 5 years (2016-2021) was undertaken among consecutive stroke and transient ischemic attack (TIA) patients to look for the presence of MMA angiographically. Each patient with angiographically proven MMA was further evaluated for demographic, clinical, and radiological characteristics. Results: Among 10,250 consecutive stroke and TIA patients (ischemic = 78%, hemorrhagic = 22%), frequency of MMA was 1.56% (n = 160); 15.3% among children. Female preponderance (Male:Female = 1:1.4) was noted among 160 MMA patients, with bimodal age distribution, first peak at 3-8 years, and a shorter second peak at 41-47 years. Childhood-onset MMA was seen in 75 (46.9%) with commonest initial neurological symptom of fixed-motor-weakness (44.0%), followed by TIA (26.7%); while 85 (53.1%) had adult-onset MMA with fixed-motor-weakness (50.6%) followed by headache (24.7%) as the predominant initial neurological symptom; seizure significantly higher in children (p < 0.001) and headache in adults (p = 0.012). Transient and fixed neurological manifestations constituted 87.5 and 69.4% respectively, of symptoms throughout the disease course. Cerebral infarction (45.0%) and TIA (21.9%) were the commonest types of MMA. On brain imaging, infarction was noted in 80.6%, hemorrhage in 11.3%, significantly higher among adults (p < 0.001). Cortical infarct and Gyral pattern were commoner in children (p = 0.004), subcortical infarcts in adults (p = 0.018). Frequent Suzuki staging observed was stage 4 (31.3%), followed by stage 3 (30.0%). Involvement of posterior circulation was detected in 55.6%, brain atrophy at the time of diagnosis was seen in 65.0%. Conclusion: MMA is an important etiological consideration in patients with stroke, especially in children. It can present with a myriad of transient neurological symptoms, frequently overlooked, leading to delayed diagnosis, and contributing to socio-economic burden. Indian MMA showed aberrations in its gender predisposition, age distribution, frequency of familial cases, disease manifestation, and type of stroke, in comparison to its Japanese and Caucasian counterparts pointing to the inter- and intra-continent differences of MMA phenotype. Future development of the Indian MMA national registry is of essence.

Thalassemia and Moyamoya Syndrome: Epidemiology and long-term outcome.

OBJECTIVES: Moyamoya Angiopathy (MMA) is a chronic, progressive intracranial vasculopathy. Unlike Sickle-cell-disease, thalassemia-syndrome has rarely been described in association with MMA. This study was aimed to analyze the demographic, clinical, radiological features and long-term outcome (and possible factors influencing prognosis) of Moyamoya Syndrome (MMS) in the largest cohort of thalassemia-related-to-MMS. MATERIALS & METHODS: A single-centered, observational study with longitudinal follow-up was undertaken for 12 cases of MMS-related-to-thalassemia-syndrome amongst 160 consecutive MMA patients. The baseline demographic, clinical and radiological characteristics were noted; and were longitudinally followed-up to assess disease progression (clinical or radiological). Fifteen previously reported cases of thalassemia and MMA were retrieved by literature search in PubMed and Google-Scholar using keywords "Moyamoya" AND "thalassemia". RESULTS: The mean age at diagnosis of thalassemia-syndrome and diagnosis of MMS were 6.4 ± 6.55 years (mean ± SD) and 10.4 ± 8.68 years respectively in our 12 cases; 3.2 ± 2.25 years and 10.6 ± 6.1 years respectively in the previously reported 15 cases. Cerebral ischemic insult was the predominant brain lesion at base-line, noted in 91.7% of our cases and 80% of the previous cases. The mean hemoglobin, transfusion-dependency and previous splenectomy were seen in 8.7 ± 3.02 gm%, 33.3% and 8.3% of our cases respectively; 7.0 ± 3.04 gm%, 53.9% and 18.2% of previous cases. All our cases were medically managed for mean follow-up of 28.3 ± 13.9 months, none had evidence of angiographic progression, 1 of our 12 cases (8.3%) had new onset neuro-deficit and subsequent mortality, rest 11 of the 12 cases (91.7%) didn't have any appearance of silent cerebral infarction or evidence of progression of brain atrophy. Among the 15 previous cases, 5 out of 9 medically managed cases and 1 revascularized case described no further clinical recurrence. CONCLUSION: Thalassemia-related-MMS may not be so rare. Future development of consensus guidelines in diagnosing and managing cases of MMS-associated-with-thalassemia is of essence.