Joubert syndrome labeled as hypotonic cerebral palsy

Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. The brain MRI confirmed the typical brain malformations.Cerebral palsy (CP) is a group of disorders of posture and movement development due to a non-progressive insult to the developing brain.1 The timing of the insult could be in the prenatal, perinatal, or postnatal period.2 Most of the clinical classifications of CP depend primarily on the tone and distribution of the motor abnormality; notwithstanding, interest in the functional classification has become popular among clinicians and therapists.3 Cerebral palsy can be classified according to the tone into spastic, dyskinetic, hypotonic, or mixed type. Spastic CP is the most common type of CP; in which, the muscle tone is increased whereas hypotonic CP is usually rare and present in children with varying degrees of reduced tone and delayed motor milestones.4 The brain MRI was found to have a strong correlation with clinical findings in most cases of CP and has helped in identifying the various etiologies.5 Our objective in presenting this particular case is to highlight the importance of thorough investigations in those labeled as hypotonic CP.     

Susceptibility weighted magnetic resonance imaging of brain: A multifaceted powerful sequence that adds to understanding of acute stroke

Context:

To evaluate the additional information that susceptibility weighted sequences and datasets would provide in acute stroke.

Aims:

The aim of this study were to assess the value addition of susceptibility weighted magnetic resonance imaging (SWI) of brain in patients with acute arterial infarct.

Materials and Methods:

All patients referred for a complete brain magnetic resonance imaging (MRI) between March 2010 and March 2011 at our institution had SWI as part of routine MRI (T1, T2, and diffusion imaging). Retrospective study of 62 consecutive patients with acute arterial infarct was evaluated for the presence of macroscopic hemorrhage, petechial micro-bleeds, dark middle cerebral artery (MCA) sign and prominent vessels in the vicinity of infarct.

Results:

SWI was found to detect hemorrhage not seen on other routine MRI sequences in 22 patients. Out of 62 patients, 17 (10 petechial) had hemorrhage less than 50% and 5 patients had greater than 50% area of hemorrhage. A “dark artery sign” due to thrombus within the artery was seen in 8 out of 62 patients. Prominent cortical and intraparenchymal veins were seen in 14 out of 62 patients.

Conclusions:

SWI has been previously shown to be sensitive in detecting hemorrhage; however is not routinely used in stroke evaluation. Our study shows that SWI, by virtue of identifying unsuspected hemorrhage, central occluded vessel, and venous congestion is additive in value to the routine MR exam and should be part of a routine MR brain in patients suspected of having an acute infarct.     

Case series of probable sporadic Creutzfeldt-Jakob disease from Eastern India

Background:

Creutzfeldt-Jakob disease is a rapidly progressive, fatal, transmissible neurodegenerative disorder caused by prion protein. It is still considered rare in countries like India. This is probably due to nonavailability of autopsy studies in majority of the center. The recent European diagnostic criterion for sporadic CJD (sCJD) is useful for making an early diagnosis.

Objective:

To report a series of patients of probable sCJD from a neurology institute of eastern India.

Materials and Methods:

Patients of rapidly developing dementia fulfilling the diagnostic criteria for sCJD were included. All were investigated in detail to find out any possible treatable cause including electroencephalography (EEG), magnetic resonance imaging (MRI) of brain, and cerebrospinal fluid analysis.

Results:

A total 10 patients of probable sCJD diagnosed using the European diagnostic criterion between December 2011 and January 2013. The clinical features are consistent with other reported series. While 60% of patients had the classical EEG findings, 100% had typical MRI features. Eight patients died within a mean duration of 4.56 months from the disease onset.

Conclusions:

The clinical features are similar to other reported series. Our observation raises question about the prevalence of this disease in India which needs more elaborate studies.Key Words: Creutzfeldt-Jakob disease, electroencephalography, magnetic resonance imaging     

Prevalence, types, clinical associations, and determinants of peripheral neuropathy in rheumatoid patients

Background:

Rheumatoid arthritis is a multi-system autoimmune disorder predominantly involving multiple small and large joints along with certain extra-articular manifestations. The presence of peripheral neuropathy in patients with rheumatoid arthritis contributes significantly to the functional limitation in patients with rheumatoid arthritis.

Objectives:

To study the prevalence, types, and determinants of peripheral neuropathy in patients with rheumatoid arthritis.

Materials and Methods:

We studied 74 patients with rheumatoid arthritis of at least 2 year duration for the presence of peripheral neuropathy both clinically and electrophysiologically. The data obtained were entered into a database and continuous variables were analyzed using the Student t test and categorical variables were analyzed using the chi-square test.

Results:

Peripheral neuropathy was detected in 39.19% (29 out of 74 patients) patients on electrophysiologic testing and 82.76% (24 out of 29 patients) of the patients were asymptomatic. There was significant association between the presence of peripheral neuropathy and disease duration and rheumatoid factor positivity by the latex agglutination method. Sensory neuropathy was the most common form detected.

Conclusions:

Our study shows that subclinical peripheral neuropathy particularly sensory neuropathy which is not related to disease severity is very common in patients with prolonged disease duration.     

Effectiveness of mirror therapy on lower extremity motor recovery,balance and mobility in patients with acute stroke: A randomized sham-controlled pilot trial

Objective:

To evaluate the effectiveness of mirror therapy on lower extremity motor recovery, balance and mobility in patients with acute stroke.

Design:

A randomized, sham-controlled, assessor blinded, pilot trial.

Setting:

Inpatient stroke rehabilitation unit.

Subjects:

First time onset of stroke with mean post-stroke duration of 6.41 days, able to respond to verbal instructions, and Brunnstrom recovery stage 2 and above were enrolled.

Intervention:

Mirror therapy group performed 30 minutes of functional synergy movements of non-paretic lower extremity, whereas control group underwent sham therapy with similar duration. In addition, both groups were administered with conventional stroke rehabilitation regime. Altogether 90 minutes therapy session per day, six days a week, for two weeks duration was administered to both groups.

Outcome Measures:

Lower extremity motor subscale of Fugl Meyer Assessment (FMA), Brunnel Balance Assessment (BBA) and Functional Ambulation Categories (FAC).

Results:

Amongst the 22 patients included, equal number of patients participated in mirror group (N = 11) and control group (N = 11). Baseline variables were similar in both groups, except for Brunnstrom recovery stage. There was no statistical difference between groups, except for FAC. (FMA: P = 0.894; BBA: P = 0.358; FAC: P = 0.02). Significance was set at P < 0.05.

Conclusion:

Administration of mirror therapy early after stroke is not superior to conventional treatment in improving lower limb motor recovery and balance, except for improvement in mobility.Key Words: Acute stroke, balance, mobility, mirror therapy, motor recovery     

Posterior quadrant disconnection for refractory epilepsy: A case series

Objective:

To analyze the surgical outcome and safety of posterior quadrant disconnection in medically refractory epilepsy arising from the posterior head region from a level IV tertiary care center over a period of three years.

Materials and Methods:

Seven consecutive patients who underwent posterior quadrant disconnection for refractory epilepsy were analyzed.

Results:

We analyzed the data of seven (n = 7) consecutive posterior quadrant epilepsy patients who underwent posterior quadrant disconnection with a mean age of 8.5 years over the last three years of which 4 were male and 3 females. All patients underwent extensive pre-surgical evaluation including detailed history, examination, prolonged video EEG recordings, neuropsychological testing, MRI brain, DTI, PET scan (n = 6), fMRI (n = 4), WADA test (n = 1) and invasive recording (n = 1), Of seven patients four had left sided pathology and three had right sided pathology. All patients except one underwent pure disconnection and one underwent partial resection.

Conclusion:

Posterior quadrant disconnection is effective surgical procedure for medically refractory epilepsy arising from the posterior quadrant in carefully selected patients without morbidity or functional disability across various age groups especially in children. In our series, all seven patient had good seizure outcome and none had functional disabilities.     

Clinico – diagnostic and therapeutic relevance of computed tomography scan of brain in children with partial seizures

Background:

Therapeutic relevance of computed tomography (CT) in children with partial seizures is reported to be remarkably low (1-2%). However, in the developing countries where infections involving the nervous system are common, routine CT scan of brain may help in finding treatable causes of seizures.

Objective:

Aim of this study was to evaluate the significance of CT scan of brain in the management of children with partial seizures.

Materials and Methods:

Children with partial epilepsy, whose predominant seizure type was focal motor seizures, were included in the study. CT scan of brain was done in all children aged between 1 month and 12 years with partial seizures of unknown etiology prospectively. The clinical findings of these children were noted along with the CT findings.

Results:

Between August 2001 and July 2002, of the 200 children with seizure disorder 50 children who satisfied the inclusion criteria were included in the study. CT scan of brain was normal in 16 children (32%) and was abnormal in 34 children (68%). Twenty children (~60% of abnormal scan) had potentially correctable lesions: Tuberculoma (n = 13), neurocysticercosis (n = 3), and brain abscess (n = 4). Five children had changes representing static pathology that did not influence patient management. The clinical features correlated with CT findings in 78% children.

Conclusion:

Children with partial motor seizures have high probability of having abnormal findings on CT scan of brain, especially, neuro-infections which are potentially treatable. Therefore, CT scan brain should be carried out in all children with partial motor seizures especially, in developing countries.     

Clinical and genetic features of anoctaminopathy in Saudi Arabia

Objectives:

Characterization of the phenotypic, pathological, radiological, and genetic findings in 2 Saudi Arabian families with anoctaminopathies, and limb girdle muscular dystrophy type 2L (LGMD2L).

Methods:

Over a 2-year period from December 2010 to January 2013, the clinical presentations were analyzed and all genes responsible for limb girdle muscular dystrophy (LGMD) were screened in families seen at King Faisal Specialist Hospital and Research Centre, a tertiary care hospital in Riyadh, Saudi Arabia. Out of 66 families with LGMD, we identified 2 families (3.1%) with anoctaminopathy, ANO5 muscular dystrophy.

Results:

In the first case, a man presented with asymmetrical calves’ muscles weakness and atrophy, which was first noted at age 39. The creatinine kinase (CK) level was >20x normal, muscle biopsy showed necrotizing myopathic changes, and an MRI of the legs showed fatty-tissue replacement to muscle tissue with volume loss involving the gastrocnemius and soleus muscles in an asymmetrical fashion. Minimal disease progression was noted over 18 years of follow up. Exercise induced recurrent rhabdomyolysis was noted over the last 2 years. A novel ANO5 gene mutation (Arg58Trp) was found. In the second family, a male presented at the age of 41 with asymptomatic hyperCkemia and intermittent dyspnea. Over 10 years follow up, he became disabled with muscle cramps, rhabdomyolysis, myoglobinurea, and difficulty ambulating. Muscle biopsy showed necrotizing myopathy and perivascular and interstitial amyloid deposit in skeletal muscle. A homozygous deletion of 11.9 Kb encompassing exon 13 to exon 17 was found in the ANO5 gene. Full cardiac investigations were normal in both patients.

Conclusion:

The prevalence of LGMD2L is approximately 3.1% in a Saudi Arabian native LGMD cohort. Slowly progressive, late onset, and asymmetrical weakness was the salient features in these 2 families. The genetic findings were novel and will add to the spectrum of ANO5 known mutations.Anoctamin is a protein involved in the calcium-activated chloride channel and named as such because it contains 8 transmembrane domains that are anions (ano “anion” and octa=8). The exact function of anoctamin 5 (ANO5) proteins are still not exactly known. It is possibly involved in cell membrane repair.1 An autosomal recessive mutation in ANO5 causes limb girdle muscular dystrophy type 2L (LGMD2L). This condition is characterized by proximal weakness affecting the pelvic girdle and leg muscles, or with only distal weakness known as non-dysferlin Miyoshi muscular weakness type 3 (MMD3).2-4 Anoctamin related muscle disorder was first described in 14 French Canadian patients in 2007.2 Subsequently, only a few cases were described from different ethnic groups.3-15 Cases of isolated hyperCKemia and pseudo metabolic myopathy were also reported to be caused by ANO5 gene mutations (MIN# 608662). In this communication, we describe the clinical and genetic findings in 2 native Arab patients who presented with a long history of exercise intolerance and high CK, and were found to have ANO5 related muscular dystrophy.     

Plasmapheresis in neurological disorders: Experience from a tertiary care hospital in South India

Background:

Therapeutic plasma exchange (PE) or plasmapheresis is the treatment of choice in many neurological disorders. Even though it is safe in experienced hands, there is a major concern about its safety among physicians.

Objectives:

To analyze our experience with 230 patients who underwent PE for various neurological disorders.

Materials and Methods:

Retrospective review of PE procedures done during a period of 48 months, from July 2007 to June 2011 in a tertiary care teaching hospital in South India. Indications, clinical results and technical factors are discussed.

Results:

The main indication for PE was GBS (203 patients; 88.3%). Age of patients ranged from 14-65 (mean = 42.3 years). The most common complications were paraesthesias and/or cramps (36.1%) and hypotension (32.2%). Four pregnant patients who underwent PE had good recovery with one intrauterine death. There was no mortality.

Conclusion:

The analysis of 240 cases of PE done in our department shows that the procedure is safe, with only minimal procedure related complications and no mortality.     

A clinical and radiological profile of neuromyelitis optica and spectrum disorders in an Indian cohort

Background:

There is insufficient data on the clinical and radiological features of neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorders (NMOSD) from India.

Objective:

The objective of the following study is to examine the clinico-radiological features of NMO and NMOSD in an Indian cohort.

Materials and Methods:

This retrospective study included 44 consecutive patients who (1) satisfied the 2006 Wingerchuk criteria for NMO (16 seropositive and 7 seronegative); or (2) had isolated or recurrent optic neuritis (ON) with seropositivity (n = 4); or (3) had isolated or recurrent myelitis with seropositivity (n = 17).

Results:

The female:male ratio was 7.8:1 with median age of onset 26.5 (range 8-72). Annualized relapse rate (ARR) was comparable across all groups (F [3, 40] = 0.938 and P = 0.431). Various presentations other than ON and myelitis were noted. All 40 patients with myelitis had spinal cord lesions involving ≥3 vertebral segments during the course of the disease. Cervicomedullary involvement was seen in 32.5% (13/40) patients. Brain magnetic resonance imaging was available for 40 patients; eight of these (20%) had brain lesions in locations described in multiple sclerosis (MS), 27.5% (11/40) had lesions at sites unusual for MS and 52.5% (21/40) had normal brain imaging.

Conclusion:

NMO and NMOSD patients in this cohort have comparable ARR regardless of clinical presentation, supporting the emerging trend of treating all patients with immunotherapeutic agents at an early stage. Varied presentations seen in NMO and NMOSD highlight the need for a high index of suspicion for NMO in demyelinating episodes not classical for MS.     

Seizure frequency and severity: How really important are they for the quality of life of patients with refractory epilepsy

Introduction:

The data in the scientific literature about the significance of seizure severity and frequency for the quality of life (QOL) of patients with refractory epilepsy (RE) are contradictory.

Objective:

Our objective was to assess the impact of the seizure severity and frequency on the QOL of Bulgarian patients with RE.

Materials and Methods:

A total of 70 patients with RE were studied by examining the medical documentation and seizure diaries. All study participants completed quality of life epilepsy inventory (QOLIE-89). Seizure severity of only 59 patients who had a seizure in the last month was assessed by the Liverpool seizure severity scale.

Results:

A limited negative impact of the seizure severity and frequency on some aspects of the physical health, epilepsy, all aspects of the social health and epilepsy and the overall QOL has been demonstrated. A weak to moderate reverse correlation between the specified factors and the respective QOLIE-89 subscales has been found.

Conclusion:

The clinical factors seizure severity and seizure frequency have a limited negative impact mostly on the social aspects of QOL. The study results support the multidisciplinary approach to persons with epilepsy.     

An institutional experience of 26 patients with Moyamoya disease: A study from Northwest India

Aim:

Moyamoya disease (MMD) is a slowly progressive bilateral stenocclusive process of the distal internal carotid and proximal portions of the anterior and middle cerebral arteries and the formation of an abnormal vascular network at the base of the brain. The purpose of this retrospective study was to identify clinical features, salient features, radiological features and yield of diagnostic cerebral angiography in MMD.

Materials and Methods:

We analyzed the records of 26 patients with MMD evaluated and treated at our institute from August 2010 until March 2013. Diagnosis of MMD was made on the basis of features of angiographic findings. Cerebral angiography showed typically fine network of vessels at the base of the brain with puff of smoke appearance suggestive of MMD. CT angiography (CTA) was done in 25 (96.15%) patients where as Digital substraction angiography (DSA) was done in 18 (69.23%) patients.

Results:

Out of the 26 patients 13 were in the pediatric age group and 13 were adults. At presentation 14 patients had infarcts and 10 patients had hemorrhages. Among the hemorrhagic group 20% had isolated intracerebral hemorrhage (ICH), 50% patients had ICH with intraventricular extension (IVE) and 30% patients had primary intraventricular hemorrhage (PIVH). 50 % of the patients had involvement of the posterior circulation.

Conclusion:

Posterior circulation involvement is frequent in MMD. Though parenchymal bleed with/without intraventricular extension is the usual presentation of hemorrhagic MMD, isolated intraventricular hemorrhage could also be the mode of presentation.     

Functional outcome following rehabilitation in chronic severe traumatic brain injury patients: A prospective study

Objective:

The objective was to assess functional outcome of rehabilitation in chronic severe traumatic brain injury (TBI) in-patients.

Setting:

The study was performed at university tertiary research hospital.

Study Design:

A prospective cross-sectional study

Materials and Methods:

Forty patients (34 men) with mean age of 30.1 years (range 6--60, SD 10.8), severe TBI (Glasgow coma scale 3--8, duration of coma > 6 hours, post-traumatic amnesia> 1 day postinjury) were admitted in rehabilitation unit minimum 3 months (mean 7.7±4.6 months, range 3--22 months) following injury falling in Glasgow outcome scale (GOS) of 3. Functional recovery was assessed using the Barthel Index (BI) score and disability rating scores (DRS).

Data Analysis:

Paired Student''s t-test was used for the assessment of functional recovery using mean BI scores at admission and discharge. The Wilcoxon nonparametric test was used for the assessment of functional recovery by comparing admission and discharge DRS scores.

Results:

Mean duration of stay was 30.8 days (range 18--91, SD15.6). Significant functional recovery observed in patients comparing BI and DRS scores at admission and discharge (mean BI admission 50.5±25.4, range 0--85 vs. mean discharge BI score 61.1±25.3, range 0--95, P<0.001, mean DRS admission score 7.57±4.1, range 2.5--21.0 vs. mean discharge DRS score 6.36±4.3, range 1.0-21.0, P<0.001).

Conclusion:

Patients with severe TBI continue to show functional recovery even in chronic phase with rehabilitation. They are left with significant residual physical and cognitive deficits and would require long-term care and assistance from care givers for the daily activities, as suggested by the mean DRS score at discharge.     

Clinical, electrophysiological, and prognostic study of postinjection sciatic nerve injury: An avoidable cause of loss of limb in the peripheral medical service

Background:

Post injection sciatic nerve injury is a common cause of sciatic nerve mononeuropathy in the developing world largely due to inadequate health care facilites in the rural regions.

Objective:

The study was conducted to analyse the pattern of this nerve lesion in clinical and electrophysiological parameters and also to study the outcome in a conservatively treated cohort.

Materials and Methods:

One hundred and six patients who underwent evaluation at our laboratory from 2000 to 2006 for post injection sciatic neuropathy formed the study population. Twenty two of these were followed up (mean 6.6 months) for the outcome.

Results:

In the cases with full data, common peroneal division of the sciatic nerve was affected alone or predominantly. On follow up, 72% cases showed little or partial recovery. Thirty two percent patients had residual trophic changes and causalgia at their last visit.

Conclusion:

The majority of cases of postinjection sciatic nerve injury have poor prognosis on conservative treatment.     

Being ambulatory does not secure respiratory functions of Duchenne patients

Aim:

The aim of this work was to assess the respiratory functions of ambulatory Duchenne patients and to propose an earlier time period for intervention.

Materials and Methods:

Lung functions and North Star Ambulatory Assessment (NSAA) scores of Duchenne patients were evaluated simultaneously.

Results:

Thirty ambulatory Duchenne patients were included in this study. NSAA scores of the patients were directly correlated with arm abduction, arm adduction, and shoulder flexion strengths. Forced expiratory volume in 1 second percent predicted and forced vital capacity (FVC) percent predicted correlated inversely to age and to the NSAA score. Twelve of 13 patients with FVC values lower than 80% of predicted had NSAA scores below 24 points. None of the patients who were younger than 7 years had FVC values lower than 80% of predicted.

Conclusion:

Annual spirometry is necessary for Duchenne patients older than 6 years regardless of the ambulatory status.     

Neuroretinitis, a great mimicker

Neuroretinitis is a less-known clinical entity, which can be funduscopically confused with papillitis or papilledema and with hypertensive, renal and infiltrative retinopathies as well as with retinal vein occlusion or anterior ischemic optic neuropathy.

Report:

Two young patients presented with sudden onset of blurring of vision. Ophthalmic evaluation revealed a characteristic picture of neuroretinitis. Detailed study of the cases failed to indicate any specific etiology, thereby suggesting the diagnosis of idiopathic neuroretinitis. Although funduscopy showed marked inflammatory changes in the retina and optic nerve head, the recovery following medical treatment was remarkable.

Comment:

Familiarity with the fundus picture and awareness of the specific causes of neuroretinitis among neurologists and physicians may enable a prompt clinical diagnosis, avoidance of expensive brain imaging studies and early referral for appropriate and effective therapy. A brief review of the literature is presented suggesting a need for further studies to establish specific environmentally determined etiological factors such as infections and the effectiveness of the current modalities of treatment.     

Awareness of neurocysticercosis: A study from northwest India

Background:

Neurocysticercosis (NCC) is a common cause of epilepsy in developing countries. In order to plan and implement prevention programs, it is essential to study the awareness of NCC.

Objective:

To study the awareness of NCC among patients with NCC and compare with age- and gender-matched controls without NCC.

Setting and Design:

Hospital based case–control study.

Materials and Methods:

Two hundred and fourteen subjects were studied (109 NCC patients, and 105 age- and gender-matched controls without NCC). The participants were selected from neurology and medical wards of a tertiary referral hospital in northwest India. They were interviewed by trained medical interns using a questionnaire.

Results:

64.2% of the NCC patients and 19% of control group had heard about NCC (P < 0.001). Knowledge regarding organ affected by NCC in the NCC group was 61.4% and in the control group was 80% (P = 0.09). Only 12.9% of the NCC group and none in the control group identified tape worm as a causative agent for NCC (P = 0.092). Negative effects of NCC on marriage and social life were more often cited by the NCC group but in the control group it was towards education (P = 0.004).

Conclusions:

The awareness of NCC was poor in both the groups. Educational programs are needed to improve the awareness about NCC among the patients and the public.     

Combining carotid endarterectomy with off-pump coronary artery bypass graft surgery is safe and effective

Background:

We, as neurologists, are frequently consulted to give neurological clearance for surgery in patients who are undergoing coronary artery bypass graft (CABG) surgery and have suffered from stroke or transient ischemic attack (TIA) in past. Similarly clearance is also sought in another group of patients who, though have not suffered from stroke or TIA, but found to have significant carotid stenosis on routine screening prior to surgery. Cardiac surgeons and anesthetists want to know the risk of perioperative stroke in such patients and should carotid endarterectomy (CEA) be done along with CABG. In absence of any clear-cut guideline, neurologists often fail to give any specific recommendation.

Aim:

To find out safety and efficacy of synchronous CEA in patients undergoing CABG.

Design:

Retrospective study.

Materials and Methods:

Out of 3,700 patients who underwent CABG, 150 were found to have severe carotid stenosis of >70%. Out of this, 46 patients with >80% stenosis (three symptomatic and 43 asymptomatic) and one patient with >70% symptomatic carotid stenosis (TIA within last 2 weeks) were taken for simultaneous CEA along with CABG. These three symptomatic carotid patients had suffered from stroke within last 6 months.

Results:

One patient with asymptomatic near total occlusion of carotid artery suffered from hyperperfusion syndrome. None suffered from ischemic stroke, myocardial infarction (MI), or death during perioperative period.

Conclusion:

Combining CEA along with CABG is a safe and effective procedure.     

Varied presentations of moyamoya disease in a tertiary care hospital of north-east India

Introduction:

Moyamoya disease is a chronic progressive cerebrovascular disorder, characterized by stenosis or occlusion of bilateral internal carotid arteries (ICAs), anterior cerebral arteries (ACAs) and middle cerebral arteries (MCAs), accompanied by a collateral network of vessels formed at the base of the brain. Ischemia and intracranial hemorrhage are the common typical manifestations. However moyamoya disease has been associated with atypical presentations like headache, seizures and involuntary movements. Although frequently reported from Asian countries like Japan, China and Korea, only few studies reported on clinical manifestations of moyamoya disease from India.

Objectives:

To study the varied presentations of moyamoya disease in a tertiary care hospital of north-east India.

Material and Methods:

Relevant investigations were done to rule out other causes of moyamoya syndrome.

Results:

We report 6 cases of moyamoya disease with varied presentations from a tertiary care referral government hospital. Case 1, 2 and 6 presented with alternating hemiparesis. Case 3 had amaurosis fugax. Case 4 had history suggestive of ischemic stroke and presented with hemichorea. Case 4 had focal seizure as the only manifestation. Cases 4 and 5 notably had stenosis of posterior cerebral artery (PCA) in addition to stenosis of bilateral ICAs, ACAs and MCAs.

Conclusion:

Owing to its low incidence in India, moyamoya disease is easily overlooked as a possible diagnosis. However, because of its progressive nature, it is imperative to diagnose this disease early and offer surgical treatment to the patients.