Annals of Indian Academy of Neurology
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   2019| July-September  | Volume 22 | Issue 3  
    Online since July 1, 2019

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Neurodegeneration with brain iron accumulation
Amit Batla, Chandana Gaddipati
July-September 2019, 22(3):267-276
DOI:10.4103/aian.AIAN_481_18  PMID:31359936
The term NBIA encompasses a heterogeneous group of inherited disorders characterized clinically by progressive extra pyramidal syndrome and pathologically by excessive iron deposition in brain, primarily affecting the basal ganglia (globus pallidus mainly).The hallmark of this syndrome is the age specific phenotypic presentation and intraphenotypic heterogeneity. NBIAs at present include ten subtypes with genes identified in nine subtypes. They form an important differential diagnosis for the phenotype of global developmental delay in infancy/childhood to dystonia-parkinsonism or isolated parkinsonism at all ages and also for the isolated craniocervical dystonia of adult onset. There needs to be a high index of clinical suspicion for this syndrome and the evaluation includes MRI brain T2* weighted imaging which reveal symmetrical iron deposition in bilateral globus pallidi and other basal ganglia. The T2 * imaging pattern of iron deposition varies amongst the different subtypes and the combination of clinical phenotype and MRI signature makes it easier to confidently make a diagnosis of NBIA and to recommend genetic testing. The treatment to date is mostly symptomatic with targeted therapies on the horizon.
  3,641 360 -
No evidence of disease activity (NEDA) in multiple sclerosis - Shifting the goal posts
Lekha Pandit
July-September 2019, 22(3):261-263
DOI:10.4103/aian.AIAN_159_19  PMID:31359933
A combined endpoint measure to define no evidence of disease activity (NEDA) is becoming increasingly appealing in the treatment of multiple sclerosis (MS). Initial efforts using a 3 parameter NEDA monitored disease activity using clinical and MRI lesion data. Later refinements, introduced more recently, include brain atrophy measurement and cognitive function analysis in defining NEDA-4. Using these stringent criteria clearly differentiated the usefulness of different disease modifying agents (DMDs) in achieving and sustaining NEDA over time. This in turn has changed attitudes and strategies in management of MS.
  2,402 166 -
The neurologist and artificial intelligence: Titans at crossroads
Venugopalan Y Vishnu, Pulikottil Wilson Vinny
July-September 2019, 22(3):264-266
DOI:10.4103/aian.AIAN_493_18  PMID:31359934
Clinical judgment to reach final diagnosis has remained a challenge since time immemorial. The present times are witness to artificial intelligence (AI) and machine learning programs competing to outperform the seasoned physician in arriving at a differential diagnosis. We discuss here the possible roles of AI in neurology.
  2,409 134 -
The risk of symptomatic intracranial hemorrhage after thrombolysis for acute stroke: Current concepts and perspectives
Pedro J Modrego
July-September 2019, 22(3):336-340
DOI:10.4103/aian.AIAN_323_18  PMID:31359953
Background: Thrombolysis is the standard of treatment for acute ischemic stroke, with a time window of up to 4½ h from stroke onset. Despite the long experience with the use of recombinant tissue plasminogen activator and the adherence to protocols symptomatic intracranial hemorrhage (SICH) may occur in around 6% of cases, with high-mortality rate and poor-functional outcomes. Many patients are excluded from thrombolysis on the basis of an evaluation of known risk factors, but there are other less known factors involved. Objective: The purpose of this work is to analyze the less known risk factors for SICH after thrombolysis. A search of articles related with this field has been undertaken in PubMed with the keywords (brain hemorrhage, thrombolysis, and acute ischemic stroke). Some risk factors for SICH have emerged such as previous microbleeds on brain magnetic resonance imaging, leukoaraiosis, and previous antiplatelet drug use or statin use. Serum matrix metalloproteinases have emerged as a promising biomarker for better selection of patients, but further research is needed. Conclusions: In addition to the already known risk factors considered in the standard protocols, an individualized evaluation of risks is needed to minimize the risk of brain hemorrhage after thrombolysis for ischemic stroke.
  2,104 84 -
Survival of atypical rabies encephalitis
Chandrakant M Bokade, Vishal S Gajimwar, Rajkumar M Meshram, Swapnil B Wathore
July-September 2019, 22(3):319-321
DOI:10.4103/aian.AIAN_202_18  PMID:31359946
Rabies is a fatal zoonotic disease transmitted primarily by dogs, cats, and bats, which accounts for approximately 59,000 deaths globally per year. An 8-year-old boy from rural central India developed an atypical presentation of rabies following a street dog bite in spite of receiving postexposure prophylaxis and proper care of Category III wounds. A diagnosis of rabies was made on the basis of clinical background, neuroimaging finding, excess antibody titer, detection of rabies viral antigen in serum, and exclusion of other etiologies. He had slow but significant recovery with intensive critical care support. The poor outcome in the described case highlights the lack of awareness, especially in rural population, and the importance of timely, adequate, and appropriate postexposure prophylaxis, which remains the only effective intervention for human rabies.
  2,003 72 -
Memantine ameliorates migraine headache
Sundar Shanmugam, Kranthi Karunaikadal, Sathyanarayanan Varadarajan, Muthuraj Krishnan
July-September 2019, 22(3):286-290
DOI:10.4103/aian.AIAN_294_18  PMID:31359939
Background and Objective: A significant number of migraine patients do not find effective and safe treatment to reduce the frequency and severity of their migraine attacks. Hence, a need for newer therapeutic agent exists. In this study, we examined the efficacy and safety of memantine for the treatment of migraine. Materials and Methods: It was a randomized, placebo-controlled, double-blind study including adult patients with 3–12 migraine headache for the last 6 months conducted in India. Patients received memantine (10 mg/day, once a day) or placebo for the period of 24 weeks after a washout period. Migraine frequency per month, the 50% responder rate, rescue medication use, and adverse events were recorded every 4 weeks. Results: Among 81 patients screened, 60 were enrolled for the study. Thirty patients received memantine and other 30 received placebo. Data were analyzed for 28 patients in memantine group and 29 patients in placebo group. At the baseline, all the parameters were similar in both groups. By 24 weeks, migraine frequency/4 weeks was memantine group versus placebo; 2.57 (±0.38) versus 5.07 (±0.69), P = 0.003 and rescue medication use was 0.75 (±0.23) versus 3.72 (±0.63) P = 0.0001. The 50% responder rate was 85.7% versus 51.7% (P = 0.005). Only a few mild adverse events were recorded in both the groups. No severe adverse events and death were recorded during the study. Conclusion: Memantine (10 mg oral, once daily) is effective, well tolerated, and safe for patients with migraine.
  1,656 82 -
Association of serum levels of calcitonin gene-related peptide and cytokines during migraine attacks
Dawei Han
July-September 2019, 22(3):277-281
DOI:10.4103/aian.AIAN_371_18  PMID:31359937
Background: During a migraine attack, trigeminal activation results in the release of calcitonin gene-related peptide (CGRP), which stimulates the release of inflammatory cytokines playing an important role in migraine. Objective: We analyze the relation between CGRP and cytokines during attacks to explore the possible mechanism of migraine. Materials and Methods: Migraine patients and healthy control were recruited at the Department of Neurology, the Sixth People's Hospital of Fuyang City, between March 2018 and July 2018. The protein levels of interleukin (IL)-1β, IL-2, IL-6, IL-10, tumor necrosis factor-alpha (TNF-α), and CGRP were determined from the sera of patients with migraine and control subjects by enzyme-linked immunosorbent assay kits. Spearman's rank correlation coefficient was also determined to calculate the correlation between CGRP and inflammatory factors levels. Results: The level of IL-1β, IL-6, TNF-α, and CGRP in migraine group were significantly higher than normal group (P < 0.05). The level of CGRP was significantly correlated with IL-1 β (r = 0.30, P < 0.05) and IL-6 (r = 0.94, P < 0.05), but not significantly correlated with IL-2 (r =−0.047, P = 0.75), IL-10 (r = 0.12, P = 0.43), and TNF-α (r = 0.05, P = 0.72). Conclusions: In our study, we found migraine patients had a higher IL-6, IL-1β, and TNF level than healthy controls and the level of CGRP was related significantly with the level of IL-1β and IL-6. In conclusion, our results suggest that IL-1β and IL-6 may be involved in the pathogenesis of migraine attacks and CGRP related with the secretion of cytokines.
  1,547 78 -
Is triamcinolone an easy and efficient way to treat meralgia paresthetica? A cohort study
Arunmozhimaran Elavarasi, Vinay Goyal, Mamta Bhushan Singh, MV Padma Srivastava
July-September 2019, 22(3):308-310
DOI:10.4103/aian.AIAN_432_18  PMID:31359943
Introduction: Meralgia paresthetica (MP) is a painful mononeuropathy of the lateral femoral cutaneous nerve. It is usually idiopathic and can be treated with drugs used for neuropathic pain such as pregabalin, gabapentin, and amitriptyline. Objectives: This study was done to study the effect of triamcinolone acetonide on drug refractory MP. Methods: This study was a retrospective case file review. Results: Eight patients were treated with local injections of triamcinolone. The patients were followed up for a period of 4 months to 54 months. There was significant symptomatic improvement with six patients having complete improvement and all patients reporting >50% improvement. Patients who had recurrence of symptoms on follow up received up to four injections as per their requirement and repeated injections also produced >50% symptom relief. Conclusion: Triamcinolone acetonide injected locally seems to be an effective and safe treatment for refractory MP. A randomized control trial has been planned to look for efficacy and safety.
  1,522 62 -
Mineralizing angiopathy of lenticulostriate arteries with infantile basal ganglia infarct following minor head trauma: A case series
Neena Baby, KP Vinayan, Arun Grace Roy
July-September 2019, 22(3):316-319
DOI:10.4103/aian.AIAN_444_18  PMID:31359945
Acute arterial ischemic stroke after minor head trauma has been reported in the past, mostly in infants. Most of these affected children had basal ganglia infarct on imaging. Investigations for other etiologies of stroke were noncontributory in most of the cases. Thin-slice computed tomography scan may show mineralizing angiopathy of lenticulostriate arteries. We report a clinical series of four infants who presented with the classical features of this distinct clinico-radiological entity. Clinical characteristics and risk factors at the time of stroke were described in detail. The long-term outcome on standard antiplatelet therapy is reported. None of the children had stroke recurrence during follow-up. The current literature on this clinico-radiological syndrome is reviewed in detail. In the typical cases, extensive etiological workup may not be warranted.
  1,499 75 -
Clinical profile, prognostic indicators, and therapeutic outcomes of pediatric opsoclonus-myoclonus-ataxia syndrome: A single-center experience from South India
Karthik Muthusamy, Maya Thomas, Sangeetha Yoganathan, Sniya Valsa Sudhakar
July-September 2019, 22(3):295-301
DOI:10.4103/aian.AIAN_101_18  PMID:31359941
Background: Opsoclonus myoclonus syndrome (OMS) is a neuroinflammatory disorder. Indian literature on its clinical profile and outcome is sparse. Objectives: The objective of this study is to describe the clinical profile and analyze outcomes and prognostic predictors in a cohort of children with OMS. Materials and Methods: This was a retrospective study of children with OMS between 2007 and 2017. Results: Twenty-two children were included in the study. The mean age at onset of symptom was 20.9 months (standard deviation [SD]: 7.5). The mean duration of delay in diagnosis was 8.4 months (SD 1.26) with acute cerebellitis being the most common misdiagnosis. Eleven children (50%) were diagnosed with tumor during evaluation and follow-up and 11 children (50%) belonged to idiopathic/postinfectious group. Magnetic resonance imaging brain was normal in all children except for one revealing cerebellar atrophy on follow-up. One child in the paraneoplastic group (neuroblastoma) had a positive PNMA2/Ta onconeural antibody. Children in the tumor group had an earlier age of onset (mean 15.5 vs. 26.3 months), shorter time to onset of opsoclonus from initial symptom (2.54 vs. 7.27 weeks), and higher severity score at presentation (13.7 vs. 11.3) compared to the nontumor group. Children in the nontumor group attained their first remission with treatment earlier (10.9 weeks, SD: 4.5) than the children with tumor (18.72 weeks, SD: 5.8). There was no significant difference in the outcome between the groups. Children with multiple relapses (>3) and late surgical intervention for tumor (>6 months after symptom onset) had a poor outcome. Discussion: A high index of suspicion coupled with early diagnosis and periodic tumor surveillance (even in the initially negative cases) along with aggressive combined multimechanistic immunotherapies is the key in improving outcomes. Conclusion: A high index of suspicion in appropriate clinical circumstances and early aggressive immunomodulation might lead to a better outcome.
  1,454 83 -
Increasing number of therapy sessions of repetitive transcranial magnetic stimulation improves motor development by reducing muscle spasticity in cerebral palsy children
Bablu Lal Rajak, Meena Gupta, Dinesh Bhatia, Arun Mukherjee
July-September 2019, 22(3):302-307
DOI:10.4103/aian.AIAN_102_18  PMID:31359942
Background: Repetitive TMS (rTMS), a non-invasive neuro-stimulation tool based on the principle of electromagnetic induction is recently being employed both for investigational and interventional purposes. The stimulating effect of rTMS on motor cortex areas of the brain leads to increased motor activity and decreased muscle tone in spastic cerebral palsy (CP) patients. Objective: This modulatory effect of rTMS is used in this study to evaluate its effect on motor function and spasticity by increasing the number of therapy session and keeping frequency of 10Hz and pulse train of 2500 constant. Methods: Total thirty spastic CP patients participated in this study after written informed consent from their parents/guardians. The participants were equally divided into three groups, namely, S-20, S-30 and S-40 depending on the number of therapy sessions. The mean age±SD of participants in different groups were 8.9±3.6, 9.5±2.9 and 8.4±3.5 in S-20, S-30 and S-40 respectively. Participants in S-20, S-30 and S-40 were provided 20, 30 and 40 sessions of rTMS therapy respectively followed by physical therapy of 30 minutes daily. Each rTMS session was of 25 minutes duration and was administered once daily for 5 days a week. Prior to start and after completion of the therapy, pre and post assessment of gross motor function measure (GMFM) for motor function and modified Ashworth scale (MAS) for muscle spasticity was performed on all the participants. Outcomes: The result of pre-versus-post GMFM score showed that 4.27%, 3.12% and 2.36% motor gain was obtained after 40, 30 and 20 sessions of therapy respectively. In addition, significant reduction in spasticity in both upper and limb muscles was also observed in all the three groups.
  1,474 41 -
Multiple cranial neuropathies in a patient with diabetes mellitus
Jomal Mathew, Madhukar Mohan, Ashok Menon
July-September 2019, 22(3):353-355
DOI:10.4103/aian.AIAN_402_18  PMID:31359961
  1,388 66 -
Two South Indian children with KCNT1-related malignant migrating focal seizures of infancy – Clinical characteristics and outcome of targeted treatment with quinidine
Abhijit Anil Patil, KP Vinayan, Arun Grace Roy
July-September 2019, 22(3):311-315
DOI:10.4103/aian.AIAN_229_18  PMID:31359944
KCNT1 gene encodes a sodium-gated potassium channel subunit that plays an important role in regulating excitability in neurons. Quinidine is a partial antagonist of this channel. We report the clinical characteristics of two south Indian children with KCNT1-related epileptic encephalopathy. Both of them had very high seizure burden which were resistant to antiepileptic and dietary therapy. Pharmacological response to quinidine in these children is described. Case 1 had 30% reduction in seizure burden at 20 mg/kg/day and 80% reduction at 36 mg/kg/day; case 2 had 30% reduction at 20 mg/kg/day. Serial electrocardiography was used to monitor the cardiotoxicity. Serum quinidine levels were not measured due to nonavailability. A critical review on the current status of targeted treatment of KCNT1-related epileptic encephalopathies with quinidine is attempted.
  1,374 73 -
Extreme delta brush in anti N-Methyl-D-Aspartate encephalitis
Neeraj Balaini, Manoj Goyal, Ritu Shree, Vivek Lal
July-September 2019, 22(3):335-335
DOI:10.4103/aian.AIAN_439_18  PMID:31359952
  1,348 91 -
Cranial Autonomic symptoms, neck pain: Challenges in pediatric migraine
Zeliha Haytoglu, Mihriban Ozlem Herguner
July-September 2019, 22(3):282-285
DOI:10.4103/aian.AIAN_206_18  PMID:31359938
Objectives: More than just a headache, migraine attack is a severe, prolonged head pain preceded and/or followed by a constellation of symptoms. Getting a proper diagnosis will be the most challenging step of migraine care. When cranial autonomic symptoms (CASs), and/or neck pain are observed, children are often exposed to advanced tests for additional diseases. The aim of this study was to investigate the frequency of these symptoms in migraine and to compare the clinical characteristics of patients with and without these symptoms. Frequency of the patients that exposed to the additional investigations was searched. Materials and Methods: In this prospective study between February 2016 and March 2017, 170 pediatric patients who were referred to our tertiary teaching hospital with migraine were enrolled. Results: A total of 170 children, 61 male (35.9%) and 109 female (64.1%) were included in the study. CASs were present in 68 patients (40%), single symptom in 31 (45.6%), and multiple symptoms in 37 (54.4%) patients. Of 68 patients with CAS, 24 (35%) patients were referred to allergists and all were tested for inhaler specific IgE and skin tests. Seventy (32.9%) patients had neck pain/stiffness in which 28 (40%) were exposed to radiation. CAS and neck pain were more frequent in patients with frequent attacks (P = 0.04 and P = 0.032, respectively). Neck pain was more frequent in patients with CAS (P = 0.029). Conclusions: It is important for pediatricians and primary care physicians to be aware of the common nature of CASs and neck pain/stiffness in children with migraine to prevent unnecessary procedures. High frequency of migrain attacks was associated with high frequency of CAS and neck pain.
  1,365 55 -
Prevalence and predictors of female sexual dysfunction in migraine
R Pradeep, Harsha Sundarmurthy, Vivek Karan, Praveen Kulkarni
July-September 2019, 22(3):291-294
DOI:10.4103/aian.AIAN_508_18  PMID:31359940
Background: Migraine is a common cause of primary headache, with women being affected thrice as common as men. Very few studies are available on sexual dysfunction in female migraineurs. There are no published studies done on the same in India till now. This study was done to look for the prevalence and predictors of sexual dysfunction disorder in females suffering from migraine. Materials and Methods: This is a cross-sectional study done to look for the prevalence and predictors of female sexual dysfunction in migraine. Sixty female patients with migraine were studied. The International Headache Society's International Classification of Headache Disorders, 3rd Edition, was followed to diagnose migraine with or without aura. Migraine disability assessment scale was used to assess migraine-related disability, and Female Sexual Function Index (FSFI) score was used to assess female sexual function. Results: Sexual dysfunction was found in 78.3% migraineurs. The mean FSFI score was 23.1 ± 4.76. The FSFI scores in all the domains were lower in the individuals studied. Acute headaches resulted in loss of sexual desire among all the migraineurs. Conclusion: Sexual dysfunction is common in migraine with all domains of sexual function being affected. There is a significant negative correlation of sexual function with duration of acute episodes of headache and increasing frequency of migraine attacks per month.
  1,343 72 -
Early-onset subacute sclerosing panencephalitis: Report of two cases and review of literature
Ananthanarayanan Kasinathan, Indar Kumar Sharawat, Shivan Kesavan, Renu Suthar, Naveen Sankhyan
July-September 2019, 22(3):361-363
DOI:10.4103/aian.AIAN_443_18  PMID:31359965
  1,323 78 -
Cryptococcal postinfectious inflammatory response syndrome in an immunocompetent host
Aarati Kulkarni, Vivek Jacob Philip, George K Varghese, Chintam Veerabhadraiah Nagendra
July-September 2019, 22(3):322-324
DOI:10.4103/aian.AIAN_29_18  PMID:31359947
Cryptococcal-postinfectious inflammatory response syndrome (c-PIIRS) in an immunocompetent host is a rare entity. Unlike cryptococcal-immune reconstitution inflammatory syndrome, in c-PIIRS, macrophage clearance defect can be persistent, and the patient requires prolonged immunosuppressants to control inflammation. Early identification and treatment can reduce the mortality and morbidity in cryptococcal meningitis (CM). Here, we describe c-PIIRS in an apparently healthy individual who developed CM and treated with effective antifungal regimen. After initial improvement, the patient showed clinical and radiological worsening, which could be likely due to PIIRS. The patient was responded to prolonged steroids.
  1,338 61 -
Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations
Hongyan Huang, Xinglong Yang, Ling Liu, Yanming Xu
July-September 2019, 22(3):325-327
DOI:10.4103/aian.AIAN_34_18  PMID:31359948
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy, and leukoencephalopathy. These clinical manifestations, with the exception of leukoencephalopathy, are mimicked by MNGIE-like syndrome, linked to polymerase-gamma (POLG) gene. Here, we report a 49-year-old Chinese man with MNGIE-like syndrome involved leukoencephalopathy and was associated with novel POLG mutations. This case expands the clinical spectrum of MNGIE-like syndrome.
  1,306 45 -
Clinico-investigative profile of hereditary spastic paraplegia in children
Mahesh Kamate, Mayank Detroja
July-September 2019, 22(3):341-344
DOI:10.4103/aian.AIAN_527_18  PMID:31359954
Introduction: Hereditary spastic paraplegia (HSP) is a group of neurogenetic disorders seen mainly in adults. With the advancement in genetics, more than 78 types of HSP have been identified, with increasing identification of HSP in children. However, there is scant literature on this from India. Materials and Methods: Retrospective chart review of patients with HSP diagnosed in the last 6 years was done. The data were extracted and analyzed. Results: A total of 11 patients had a diagnosis of HSP (genetically confirmed), with mean age of presentation at 21.7 months. The main symptom at the time of presentation was delayed walking and/or abnormal gait in the form of tip-toeing and scissoring of limbs. The mean delay in diagnosis was 5.2 years after initial presentation. MRI of the presented children showed mainly thinning of corpus callosum and white-matter changes. All of them had gradual worsening spasticity, despite physiotherapy and drugs. Except one, all children had recessive form of spastic paraplegia. Child with autosomal dominant spastic paraplegia had heterozygous mutation in SPAST gene, which is known to present in the first 2 years of life. Conclusions: HSP is probably not uncommon. Recessive form of HSP is more frequently seen in children. Because of lack of awareness, there is delay in reaching the final diagnosis.
  1,263 66 -
The occurrence of metronidazole-induced encephalopathy in cancer patients: A hospital-based retrospective study
Jui-Ping Tsai, Kevin Li-Chun Hsieh, Tu-Hsueh Yeh, Yuarn-Jang Lee, Chun-Ren Wei
July-September 2019, 22(3):344-348
DOI:10.4103/aian.AIAN_523_18  PMID:31359955
Background: Metronidazole-induced encephalopathy (MIE) is a rare but serious complication caused by metronidazole, a widely used antianaerobic drug. Previous studies prescribed MIE including dysarthria, cerebellar ataxia, and confusion after long-term use of metronidazole. Malignancy has been proposed one of the predisposing conditions for MIE. However, the occurrence of MIE in cancer patients remains unknown. Methodology: We investigated the occurrence of MIE and analyzed retrospectively by hospital-based data of 4160 cancer patients from January 2014 to December 2016. Results: Findings in 793 cancer patients who underwent metronidazole therapy for anaerobic infection revealed two cases of MIE. One had renal cell carcinoma and the other had bladder urothelial carcinoma. Both of their initial presentation were cerebellar dysfunction. The occurrence of MIE was 8.6% for cases who received >30 g of cumulative dose. Hypertension was the most common comorbidity, followed by chronic renal disease and diabetes mellitus. Conclusion: In cancer patients, MIE should be monitored in those with genitourinary cancer, especially with renal dysfunction. Longer duration with more cumulative dose also has a greater risk of MIE. Early consideration of MIE with prompt cessation of metronidazole may result in better outcome.
  1,237 52 -
Pseudo hypsarrhythmia: An early marker of angelman syndrome
Ananthanarayanan Kasinathan, Sumeet Dhawan, Renu Suthar, Naveen Sankhyan
July-September 2019, 22(3):359-361
DOI:10.4103/aian.AIAN_413_18  PMID:31359964
  1,214 41 -
Ischemic amnesia caused by bilateral fornix infarction: A rare entity
Madhavi Karri, Balakrishnan Ramasamy, Santhosh Perumal
July-September 2019, 22(3):333-334
DOI:10.4103/aian.AIAN_303_18  PMID:31359951
  1,099 59 -
An unusual combination of neurological manifestations and sudden vision loss in a child with familial hyperphosphatemic tumoral calcinosis
Lokesh Lingappa, Shoji Ichikawa, Amie K Gray, Dena Acton, Michael J Evans, Rajsekara Chakravarthi Madarasu, Ramesh Kekunnaya, Sirisharani Siddaiahagari
July-September 2019, 22(3):327-331
DOI:10.4103/aian.AIAN_191_18  PMID:31359949
Hyperphosphatemia in the absence of renal failure is an unusual occurrence, particularly in children, but is a common primary feature of familial hyperphosphatemic tumor calcinosis. We report a child with hyperphosphatemia who presented with multiple episodes of neurologic dysfunction involving lower motor neuron facial nerve palsy along with sequential visual loss. He also had an episode of stroke. There was an extensive metastatic calcification of soft tissue and vasculature. Hyperphosphatemia with normal serum alkaline phosphatase, calcium, parathyroid hormone, and renal function was noted. He was managed with hemodialysis and sevelamer (3 months) without much success in reducing serum phosphate level, requiring continuous ambulatory peritoneal dialysis (3 years). Intact fibroblast growth factor 23 (FGF23) was undetectable, with C-terminal FGF23 fragments significantly elevated (2575 RU/ml, normal <180 RU/ml). Sequencing demonstrated homozygous c.486C >A (p.N162K) mutation in FGF23 exon 3, confirming the diagnoses of primary FGF23 deficiency, the first case to be reported from India.
  1,098 39 -
In memoriam: Dr. K K Sinha MD, FRCP, FICP, FIAN
Sudhir Kumar Jha
July-September 2019, 22(3):365-366
  1,087 49 -
Isolated choroid plexus infarction presenting as psychomotor slowing
Jin San Lee, Eui Jong Kim, Sung Sang Yoon
July-September 2019, 22(3):332-333
DOI:10.4103/aian.AIAN_197_18  PMID:31359950
  1,038 40 -
Acute influenza a virus-associated encephalitis with bilateral lateral geniculate body hemorrhagic infarction-complicating pregnancy
Goutham Kumar Puppala, Arvind N Prabhu, Shankar Prasad Gorthi, Vijay Chandran
July-September 2019, 22(3):355-357
DOI:10.4103/aian.AIAN_319_18  PMID:31359962
  1,034 44 -
Mobile Phone–Induced vertebral artery dissection
Arunmozhimaran Elavarasi, Thekkumpurath Moyinul Haq, Thekkumpurath Thahira, Chiminikkara Bineesh, Lakshmana B Kancharla
July-September 2019, 22(3):349-350
DOI:10.4103/aian.AIAN_123_19  PMID:31359956
  874 54 -
Hashimoto encephalopathy in children
Meenal Garg, Sunil Dutt Sharma, Abhishek Hajela, Piyush Gupta
July-September 2019, 22(3):357-359
DOI:10.4103/aian.AIAN_18_19  PMID:31359963
  847 38 -
Obesity, ethnicity and idiopathic intracranial hypertension
V Abdul Gafoor, B Smita, James Jose
July-September 2019, 22(3):352-352
DOI:10.4103/aian.AIAN_114_19  PMID:31359960
  857 24 -
The Ape's Tail
Ajith Cherian
July-September 2019, 22(3):266-266
DOI:10.4103/0972-2327.261886  PMID:31359935
  790 82 -
Clinical mimickers of amyotrophic lateral sclerosis-conditions we cannot afford to miss
Nishita Singh, Sucharita Ray, Achal Srivastava
July-September 2019, 22(3):351-351
DOI:10.4103/aian.AIAN_456_18  PMID:31359959
  788 80 -
Pattern of idiopathic intracranial hypertension in Indian population
Asutosh Pal, Prasenjit Sengupta, Debsadhan Biswas, Chetana Sen, Avik Mukherjee, Sandip Pal
July-September 2019, 22(3):350-351
DOI:10.4103/aian.AIAN_160_19  PMID:31359957
  755 48 -
Atlas of neurology (A case-based approach)
Subhash Kaul
July-September 2019, 22(3):364-364
  721 62 -
Authors' reply
Sucharita Ray
July-September 2019, 22(3):351-351
DOI:10.4103/aian.AIAN_483_18  PMID:31359958
  693 24 -
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