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  Citation statistics : Table of Contents
   2013| September-October  | Volume 61 | Issue 5  
    Online since November 22, 2013

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Spectrum of neurological complications in HELLP syndrome
Birinder S Paul, Sunil K Juneja, Gunchan Paul, Shweta Gupta
September-October 2013, 61(5):467-471
Background: Hemolysis (H), elevated liver enzymes (EL), and low platelets (LP), HELLP syndrome is the extended spectrum of severe preeclampsia and is associated with high mortality. A large proportion of mortality can be attributed to catastrophic central nervous system events. Aims: The purpose of this study was to access the clinical manifestations, radiological abnormalities and outcome in patients of HELLP syndrome with neurological manifestations. Setting: Obstetric unit and neurology intensive critical unit (ICU) of an academic medical center. Study Design: Retrospective study. Subjects and Methods: Case records of all obstetrical patients who were admitted between January 2012 and December 2012 were screened and data was collected from those patients who were diagnosed with HELLP syndrome with neurological complications. It was entered into a structured performa and analyzed using percentages . Results: During the study period; 1,166 deliveries were conducted, 108 patients had pregnancy-induced hypertension (PIH); and of the 12 patients with HELLP, eight (66%) patients had neurological complications. The presenting neurological features were seizures (four), focal neurological deficits (two), and encephalopathy (two). Of the eight patients, in six patients neuroimaging showed features of posterior reversible encephalopathy syndrome (PRES), three of them had associated hemorrhage, and two patients had isolated intracranial hemorrhage. All except two were discharged home. Conclusions: Neurological complications are not uncommon in patients with HELLP syndrome and a high index of suspicion is essential. Aggressive multidisciplinary approach is the key to reduce the morbidity and mortality.
  8 6,541 169
Hypertrophic trigeminal nerves: Moustache sign
Satish V Khadilkar, Devshi R Visana, Abhinay M Huchche, Neha Shah, Niharika Gupta, Nadir E Bharucha
September-October 2013, 61(5):566-567
  4 3,855 184
Retroclival subdural hematoma: An uncommon site of a common pathology
Prasad Krishnan, Rajaraman Kartikueyan, Siddhartha Roy Chowdhury, Sayan Das
September-October 2013, 61(5):550-552
  3 5,563 60
Spinal epidural hematoma with myelitis and brainstem hemorrhage: An unusual complication of dengue fever
Manmohan Singh, Kanwaljeet Garg, Ajay Bisht, Bhawani Shankar Sharma, Pankaj Kumar Singh, Mihir Pandia, Ashok Mahapatra
September-October 2013, 61(5):541-543
  3 1,790 70
Cognitive, functional, and psychosocial outcome after severe traumatic brain injury: A cross-sectional study at a tertiary care trauma center
Sumit Sinha, Prashant Gunawat, Ashima Nehra, Bhawani S Sharma
September-October 2013, 61(5):501-506
Background: Traumatic brain injury (TBI) constitutes a significant public health problem. Objectives: To assess cognitive, functional, and psychosocial outcome in patients with severe TBI (STBI). Materials and Methods: A total of 77 survivors of STBI treated at our center were prospectively assessed in the outpatient department 1 year after the injury. These patients were assessed for cognitive, functional, and psychosocial outcome using cognitive outcome tests, dysfunctional analysis questionnaire, and personality trait inventory, respectively. Cognitive and functional outcome was graded as average and above average recovery (good recovery) or below average recovery (poor recovery). Psychosocial outcome was assessed as average recovery (good recovery) or mild impairment and severe impairment (poor to very poor recovery). Statistical analysis was done using Chi-square and Fisher's exact tests. Results: The ability to learn new things was most affected aspect of cognitive function and only 1% of patients had good recovery in this domain. However, 44% had good outcome for simple memory. A total of 61% showed good recovery in several aspects of functional status. At the end of 1 year, 62.5% patients still remained unemployed. 45.4% patients had good recovery, while 37% had severe impairment for various personality traits and 40% of patients had impaired emotional stability, while 57% patients showed impaired recovery in depressive tendency. Conclusion: In this study 61% patients with STBI had good recovery in functional outcome and 45.4% in psychosocial outcome at 1 year follow-up. However, improvement in cognitive outcome was not so optimistic with the ability to learn new things being most affected.
  3 3,526 154
Postpartum cerebral angiopathy presenting with non-aneurysmal subarachnoid hemorrhage and interval development of neurological deficits: A case report and review of literature
Li Yang, Harrison X Bai, Xin Zhao, Yanqiao Xiao, Liming Tan
September-October 2013, 61(5):517-522
Postpartum cerebral angiopathy (PCA) is a cerebrovascular disease that occurs during the postpartum period. It is characterized by reversible multifocal vasoconstriction of the cerebral arteries. We report a patient with PCA proven by cerebral angiography that revealed multifocal, segmental narrowing of the cerebral arteries and non-aneurysmal subarachnoid hemorrhage. The patient suddenly deteriorated with focal neurological deficits on the 5 th day of hospitalization. She was treated with calcium-channel blockers and monitored with daily transcranial Doppler ultrasound. Her symptoms gradually improved and she was discharged on the 11 th day of hospitalization. At 1-month follow-up, patient was completely symptom-free with no neurological deficits.
  2 3,595 75
Facial pain in carcinoma colon
Prashant S Naphade, Abhishek R Keraliya
September-October 2013, 61(5):540-541
  2 1,525 44
Pituitary ependymoma: Report of a rare case with an insight into the histogenesis
Vengalathur Ganesan Ramesh, Kavindapadi Veerasamy Karthikeyan, Shyamala Rajaraman, Ramesh Rao
September-October 2013, 61(5):545-546
  2 1,561 51
Transient cardiac asystole induced by electrocautery during excision of a cerebellopontine angle tumor
Kamath Sriganesh, Paritosh Pandey
September-October 2013, 61(5):554-554
  2 1,351 40
Intramedullary spinal cord metastasis detected with whole body diffusion-weighted imaging
Yan Zhang, Yongbo Huang, Xixing Wang, Jun Wang
September-October 2013, 61(5):555-556
  2 1,533 36
Cerebral pheohyphomycosis: Report of a rare case with review of literature
Shantha Ravisankar, R Vimal Chander
September-October 2013, 61(5):526-528
  2 1,560 71
Comparative study of lumboperitoneal shunt versus ventriculoperitoneal shunt in post meningitis communicating hydrocephalus in children
Amit Singh, IN Vajpeyi
September-October 2013, 61(5):513-516
Background: Managing post meningitis hydrocephalus in children is a herculean task for the treating pediatric surgeon or neurosurgeon because of the morbidity associated with the disease per se and the complications of shunt surgery. By this study, the effectiveness of lumboperitoneal (LP) shunt and ventriculoperitoneal (VP) shunt in cases of post meningitis communicating hydrocephalus was assessed in children. Materials and Methods: This was a retrospective analysis of the records of children admitted in our institute between December 2005 and March 2008. Only children with post meningitis communicating hydrocephalus who underwent either LP or VP with a minimum follow-up period of 36 months were included in the study. Children with non-communicating hydrocephalus or hydrocephalus due to another etiology were excluded. Investigations were included plain brain computed tomography scan, air encephalography and X-ray skull. Medium pressure Chabbra shunt with slit valves was used in all cases of VP and LP shunt. A comparative analysis of the outcome was carried out between the two groups. Results: There were 66 males and 24 females (M: F 2.7:1. The average age at presentation was 40.3 months. LP shunt was performed in 37 while VP shunt in 53 cases Complication rate in the LP and VP shunt was 15% and 29% respectively with non-obstructed complications higher in VP group when compared to LP group. Obstructed complication rate was similar in both groups. Conclusion: Due to less morbidity and ease of placement, LP shunt can be an alternative to VP shunt in cases of communicating hydrocephalus in children, which has more non-obstructed complication rates as compared to LP shunt.
  2 3,440 91
HIV neuropathy in pre-HAART patients and it's correlation with risk factors in Central India
Tribhuvan Nath Dubey, Somnath Singh Raghuvanshi, Himanshu Sharma, Rita Saxena
September-October 2013, 61(5):478-480
Background: Peripheral neuropathy (PN) is the most common neurological complication of human immunodeficiency virus (HIV) infection and often goes unrecognized. This ailment has a significant debilitating impact on the quality of life of HIV/acquired immunodeficiency syndrome (AIDS) patients. HIV-associated sensory neuropathy (HIV-SN) is the most common PN in HIV infected patients. In India, although HIV has emerged as a public health menace, the burden of HIV-SN has not yet been well-defined. Materials and Methods: We used the Brief Peripheral Neuropathy Screening (BPNS) tool, validated by the AIDS Clinical Trial Group (ACTG) and carried out a cross-sectional study to determine the prevalence of HIV-SN and its associated factors among highly active antiretroviral therapy (HAART) naive HIV patients. HIV-SN is defined as the presence of neuropathic symptoms and at least an abnormal perception of vibrations of a 128 Hz tuning fork on the great toe or abnormal ankle reflexes or both. Results: Out of 75 patients studied, 40% had clinical HIV-SN and nerve conduction study (NCS) confirmed its presence in all of them. In patients with neuropathy, the mean hemoglobin was 10.76 g/dl (P < 0.0001), mean serum albumin 2.7 g/dl (P < 0.001), mean body mass index (BMI) 17.18 kg/m 2 (P < 0.0001), and mean CD4 T-cell count was 497/μl; whereas, in patients not having neuropathy the same values were 12.81 g/dl, 3.64 g/dl, 20.22 kg/m 2 , and 678/μl, respectively. Patients recall and clinical chart review showed that, 40% had symptoms even prior to HAART initiation. Conclusions: HIV-SN is more common among pre-HAART patients with low level of hemoglobin, serum albumin, BMI, and CD4 T-cell count. Hence, it is found that neuropathy can be prevented by improving immune as well as nutritional status of HIV infected patients. So, BPNS, being a simple diagnostic tool should therefore be routinely applied to screen the neuropathy, to minimize the negative impact it has on the quality of life in patients with HIV infection.
  2 2,459 79
Treatment of brain glioblastoma multiforme with pcDNA3.1-Egr. 1p-p16 combined with gamma knife radiation: An experimental study on nude mice
Liu Wenke, Li Peng, Wang Xing, Shi Yujun, Zhong Qi, Ren Haibo, Wang Wei
September-October 2013, 61(5):491-496
Background: High post-operative recurrence and poor prognosis are likely to be related to the infiltrative growth of the glioblastoma multiforme (GBM). Objectives: The primary objective of this study is to investigate the possible synergistic effect of the combined treatment of gamma knife radio-surgery (GKRS) and gene therapy for GBM and secondary objective is to explore the role of GKRS for the temporal and spatial regulation of the gene expression. Materials and Methods: The study performed on 70 nude mice and randomly divided into seven groups. Subcutaneous injection of human GBM tumor cells (T98G) was carried out to establish the animal models. Various doses of liposome-mediated pcDNA3.1-Egr. 1p-p16 recombinant plasmid were transfected through intra-tumor injection. GKRS was scheduled following the plasmid transfection. Tumor volumes were measured every 4 days after the treatment. Subcutaneous tumor nodule specimens were collected to analyze the cell apoptosis and p16 gene expression using terminal-deoxynucleoitidyl transferase mediated nick end labeling staining and reverse transcription-polymerase chain reaction. Tumor volumes, levels of cell apoptosis and p16 gene expression were compared between groups. Results: Rates of tumor growth were significantly lower in the pcDNA3.1-Egr. 1p-p16 plasmid + GKRS groups than that in the remaining groups 28 days following the GKRS management. The p16mRNA expression was noted in both of the pcDNA3.1-Egr. 1p-p16 plasmid group and the pcDNA3.1-Egr. 1p-p16 plasmid + GKRS with marginal-dose of 20 Gy group. The level of messenger ribonucleic acid expression was higher in the pcDNA3.1-Egr. 1p-p16 plasmid + GKRS with the marginal-dose of 20 Gy group, with a markedly increased apoptotic and necrotic cells, than that in the pcDNA3.1-Egr. 1p-p16 plasmid group. Conclusions: In animal studies, pcDNA3.1-Egr. 1p-p16 in combination with GKRS is a preferable management option for the GBM to the sole use of GKRS or gene therapy. It may be a novel approach for the treatment of human patient with GBM.
  2 2,075 47
Early diagnosis and treatment of growing skull fracture
Xiaoyu Wang, Guoping Li, Qiang Li, Chao You
September-October 2013, 61(5):497-500
Background: Growing skull fracture (GSF) is a rare complication of pediatric skull fractures and causes delayed-onset neurological deficits and cranial asymmetry. Early treatment is pivotal to prevent those complications. The aim of this study is to highlight the early diagnosis and treatment of GSFs. Materials and Methods: Between January 2000 and June 2013; 6,916 children with linear fracture were treated in three separate hospitals. Inclusion criteria were: Patients who were diagnosed and treated within 30 days and had one or more following features: (a) 3 years or less age with cephalohematoma; (b) seizures immediate to the injury; (c) underlying brain damage; and (d) bone diastasis 4 mm or more. A review was retrospectively carried out to identify those patients who had early diagnosis and surgical intervention. Results: Eighty-six patients met the inclusion criteria and all had magnetic resonance imaging (MRI) brain scans. Twenty-two patients had GSF, fall was the most frequent cause of injury and cephalohematomas the most common symptom. The most common injury site was the parietal region. Early surgical repair of dura and skull was associated with good outcomes. Conclusions: The patients aged 3 years or less with cephalohematoma, underlying brain damage, bone diastasis ≥4 mm on computed tomography (CT), and seizures immediate to the injury were high risk group for developing GSFs. Early diagnosis and surgical treatment of GSF can yield a good outcome.
  2 6,323 121
Retrieval of a microcatheter from arteriovenous malformations after hemorrhage following Onyx embolization
Paritosh Pandey, Rakshit Shetty, Paramveer Sabharwal, HR Aravinda
September-October 2013, 61(5):523-525
Retained microcatheter is a rare complication during embolization of arteriovenous malformations (AVMs). Following the availability and popularization of Onyx, the incidence of retained catheter has become lesser. Though there have been reports of retained microcatheter during embolization of AVM with Onyx, there has been only one previous report of surgical retrieval of retained microcatheter. We report the second case of retrieval of retained microcatheter following embolization of AVM with Onyx.
  1 2,108 70
Growing skull fractures: Guidelines for early diagnosis and effective operative management
D Raja Reddy
September-October 2013, 61(5):455-456
  1 2,822 155
Bilateral symmetrical globus pallidus lesions following disulfiram ingestion
Bhupender Kumar Bajaj, Anand Singh
September-October 2013, 61(5):539-540
  1 8,796 95
Primary spinal epidural diffuse large B-cell lymphoma
Sujit Abajirao Jagtap, Akshay S Patil, C Kesavdas, N Radhakrishnan, Himanshu Soni, Kandraju Sai Satish
September-October 2013, 61(5):532-534
  1 1,984 56
Paraneoplastic CRMP-5 basal ganglionitis and limbic encephalitis in an elderly Indian lady
Boby Varkey Maramattom
September-October 2013, 61(5):534-535
  1 1,814 45
Intraventricular melanoma metastases
Alberto Feletti, Salima Magrini, Renzo Manara, Enrico Orvieto, Giacomo Pavesi
September-October 2013, 61(5):547-548
  1 1,892 50
Armored brain-Massive bilateral calcified chronic subdural hematoma in a patient with ventriculoperotoneal shunt
Kanwaljeet Garg, Pankaj Kumar Singh, Raghav Singla, P Sarat Chandra, Manmohanjit Singh, Guru Dutt Satyarthhe, Hitesh Kumar Gurjar, Bhawani Shankar Sharma
September-October 2013, 61(5):548-550
  1 1,714 61
Idiopathic intracranial hypertension in pediatric population: Case series from India
Arun Grace Roy, Kollencheri Puthenveettil Vinayan, Anand Kumar
September-October 2013, 61(5):488-490
Background: Idiopathic intracranial hypertension (IIH) is a well described entity in adults. In pediatric age group the presentation of disease can vary depending on the age of patients and is less frequently reported. Aim: The aim of this study is to describe the clinical features, investigations, treatment and outcome of IIH in pediatric population (age <18 years). Materials and Methods: This retrospective hospital based study was carried out on 25 children with diagnosis of IIH based on modified Dandys criteria. Their clinical, investigation, treatment, outcome and follow-up for 2 year period were analyzed. Results: Out of the 25 children, the youngest child was 4-month-old infant. The commonest symptom was headache (76%) followed by vomiting and papilledema (72%). The mean cerebrospinal fluid (CSF) pressure was 330 mm of H 2 O. In Infants irritability and bulging anterior fontanelle was seen. A total of 24 patients showed a complete resolution of symptom. None of patient had recurrence over a period of 2 years follow-up. Conclusion: IIH can present at any age group. This is the largest series of IIH reported in pediatric population in India. The clinical features are similar to adult patients except in infants. Absence of papilledema does not exclude the diagnosis of IIH. CSF pressure monitoring is needed in suspected cases of IIH. Early and prompt treatment can prevent deficits.
  1 3,899 169
Accuracy of computed tomography perfusion in detecting delayed cerebral ischemia following aneurysmal subarachnoid hemorrhage: A meta-analysis
Haogeng Sun, Hanmei Zhang, Junpeng Ma, Yi Liu, Kun Wang, Chao You
September-October 2013, 61(5):507-512
Background and Purpose: In recent years, significant literature shows that computed tomography perfusion (CTP) can provide sufficient information on cerebral hemodynamics and effectively indicate delayed cerebral ischemia (DCI) before the development of infarction. We aimed at performing a meta-analysis to provide a more full and accurate evaluation of CTP and CTP parameters in detecting DCI in patients with aneurysmal subarachnoid hemorrhage. Materials and Methods: We searched the PubMed, MedLine, Embase and Cochrane databases for analysis published from February 2005 to February 2013. We extracted CTP parameters, including cerebral blood volume (CBV), cerebral blood flow (CBF), mean transit time (MTT), time to peak (TTP), interhemispheric ratios for CBV and CBF and interhemispheric differences for MTT and TTP. Pooled estimates of sensitivity, specificity, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR) and the summary receiver-operating characteristic curve were determined. Results: Four research studies are met the inclusion criteria for the analysis. The pooled sensitivity, specificity, PLR, NLR and DOR of CTP for detecting the DCI were 82%, 82%, 4.56, 0.22 and 20.96, respectively. Through the evaluation of absolute CTP parameters, CBF and MTT showed diagnostic value for DCI, but CBF and TTP did not. Moreover, CBF ratio, MTT difference and TTP difference showed more diagnostic value than CBV ratio in DCI detection by the assessment of relative CTP parameters. Conclusions: As a non-invasive and short time consuming screening method, CTP own a high diagnostic value for the detection of DCI after aneurysm rupture.
  1 2,003 63
Movement disorders: Indian scenario: A clinico-genetic review
Shyamal Kumar Das, Bhaskar Ghosh, Gautami Das, Arindam Biswas, Jharna Ray
September-October 2013, 61(5):457-466
Movement disorder (MD) is an important branch of neurology and has great potentiality in management because of improved diagnosis and therapeutic strategies. Over the last three decades, emphasis has been laid on the evaluation of various MDs in India by a limited number of interested neurologists and basic scientists. In this review, we want to highlight common problems of MDs in India with regard to epidemiology, clinical features and genetics.
  1 5,087 441
Magnetic resonance imaging features in seizures associated with nonketotic hyperglycemia
Ying Chang, Meng-Chao Zhang, Huan-Huan Wan, Hua Xin
September-October 2013, 61(5):528-530
  - 2,625 81
Granulomatous amoebic meningoencephalitis
Sameer Vyas, Vikash Jain, Manoj Kumar Goyal, Bishan Dass Radotra, Niranjan Khandelwal
September-October 2013, 61(5):530-531
  - 2,775 79
A case of post varicella cortical venous thrombosis successfully treated with dabigatran
Thomas Mathew, Alexander Manuel Lobo, Gosala Raja Kukkuta Sarma, Raghunandan Nadig
September-October 2013, 61(5):531-532
  - 1,424 58
Nasal encephalocele with herniated anterior cerebral arteries in an adult: A technical case report with special emphasis on technique of management of herniated cerebral vessels
Rajeev Sharma, BA Chandramouli, Prateek Nayak
September-October 2013, 61(5):543-545
  - 2,322 47
Spontaneous rupture of hydrocephalic head
Kanwaljeet Garg, Hitesh Kumar Gurjar, Pankaj Kumar Singh, Guru Dutt Satyarthee, Manmohan Singh, P Sarat Chandra, Bhawani Shankar Sharma
September-October 2013, 61(5):556-558
  - 3,367 75
Look before you leap: Dynamic multiphasic contrast enhanced magnetic resonance imaging in cavernous sinus lesions
Shashwat Mishra, Arun Kumar Srivastava, Amit Chaudhary, Rajanikant Yadav
September-October 2013, 61(5):558-560
  - 1,556 65
Infected intraosseous hematoma in an infant
Ergun Karavelioglu, Olcay Eser, Ilyas Ozadarli, Mehmet Akif Sonmez
September-October 2013, 61(5):560-561
  - 1,344 33
The significance of redundant nerve roots of cauda equina
S Rajesh Reddy, BG Ratnam, Rahul Lath, Alok Ranjan
September-October 2013, 61(5):562-562
  - 4,321 65
Interhemispheric neurenteric cyst
Mazda K Turel, Geeta Chacko, Ari G Chacko
September-October 2013, 61(5):563-565
  - 1,568 57
An unusual case of reversible cerebral vasoconstriction syndrome presenting with a large intraparenchymal haematoma
Munawwar Ahmed, Shyamkumar N Keshava, Suraj Mammen, Ari G Chacko, Krishna Prabhu
September-October 2013, 61(5):535-537
  - 1,642 53
Mucolipidosis and progressive myoclonus epilepsy: A distinctive phenotype
Ramshekhar N Menon, Sujith Jagtap, Ravindra Thakkar, Gayathri Narayanappa, Muralidharan Nair
September-October 2013, 61(5):537-539
  - 2,203 58
Internal jugular, subclavian and brachiocephalic vein thrombosis associated with cerebral venous sinus thrombosis
Girish Baburao Kulkarni, Veerendrakumar Mustare, Vinod Varghese
September-October 2013, 61(5):526-526
  - 2,004 64
Intrathoracic migration of ventriculoperitoneal shunt through the Morgagni's hernia in case with Down syndrome: A rare shunt complication
Hakan Çakin, Metin Kaplan, Sait Öztürk, Ahmet Kazez
September-October 2013, 61(5):552-553
  - 2,130 17
Electroencephalogram beta power assay: A promising diagnosis tool of cognitive impairment in early time after cerebral hemorrhage
Jun Liu, Ting Lai, Ke-Jie Mu, Zheng Zhou
September-October 2013, 61(5):472-477
Background: Cerebral hemorrhage (CH) could affect the cerebral function on specific cognitive abilities and lead to the cognitive decline or cognitive dysfunction. Electroencephalogram (EEG) is a relatively cheap and easy usable tool, which could reflect the cerebral function of the patients. Materials and Methods: A total of 170 patients (patients with and without cognitive impairment) with CH and 120 normal healthy controls were recruited from September 2008 to June 2012 at the Department of Neurology. EEG studies were carried out to analyze the cerebral function in all the subjects. Correlation, clustering and concordance analysis were performed to analyze the relationship between EEG power and Montreal cognitive assessment (MoCA) scores. The effects of EEG analysis were assessed to diagnosis the cognitive impairment. Results: The results were showed that patients with cognitive impairment had a significantly decreased EEG beta power (0.771 ± 0.149 μV 2 ) compared with the normal cognitive function (1.654 ± 0.186 μV 2 , P < 0.01) or normal healthy controls (1.703 ± 0.216 μV 2 , P < 0.01). Significantly positive correlation (r = 0.90174, P < 0.001) was discovered between relative beta power and hemorrhage type, while significantly negative correlations between the relative beta power and hemorrhage size and amount were also observed (r =−0.81235 and r =−0.90136, respectively, all P < 0.001). There was a better concordance between K-means clustering algorithm calculating of the relative beta power and MoCA scores (κ =0.913, P < 0.001). Conclusion: The cognitive impairment post hemorrhage was positively correlated to hemorrhage type and negatively correlated with hemorrhage size and amount. The analysis method of EEG beta power abnormality holds a promise to assess the cognitive impairment post CH.
  - 1,849 62
A large series of immunohistochemically confirmed cases of congenital muscular dystrophy seen over a period of one decade
Madhu Nagappa, Nalini Atchayaram, Gayathri Narayanappa
September-October 2013, 61(5):481-487
Background: Although congenital muscular dystrophies (CMD) is a common condition among primary muscle disorders, there are only a few small series reported from India. Aims, Settings, and Design: Retrospective analysis to characterize histopathologically and/or immunohistochemically confirmed cases of CMD. Materials and Methods: Patients were identified retrospectively from the archived muscle biopsy reports between 1997 and 2007 at the Department of Neuropathology of the institute. Medical records were scrutinized for all details. Results: There were 102 cases which were characterized by clinical phenotype and histopathology. Among these 56 had immunohistochemical staining and were included in the final analysis. Merosin staining performed in 53 samples identified nine patients with merosin negative CMD. The male to female ratio (M:F) was 2:1 and the mean age at presentation was 69.7 ± 62.2 months. All had grossly delayed motor milestones. There were 13 cases of Ullrich CMD confirmed by absent staining for collagen 6A1 in muscle. Mean age at diagnosis was 63.7 ± 27.9 months. Onset of symptoms was in infancy in 12 patients. All had significant delay in motor milestones and had classical features of proximal contractures, distal hyperextensibility, prominent calcaneum, velvety palms and soles with absent palmar creases. Mean creatine kinase (CK) value was 259.1 ± 109.4 IU/l. Alpha-dystroglycan (α-DG) deficiency was identified in three cases. Illness onset was in infancy. Classical magnetic resonance imaging (MRI) features were seen in all. Large group of 31 cases of merosin positive CMD had clinical findings of early onset limb weakness, hypotonia, and contractures; with histopathological evidence of dystrophy, and normal staining pattern of merosin, collagen 6A1 and α-DG. Mean age at evaluation was 58.61 ± 48.4 months. Majority (87.1%) had onset of symptom in infancy with delay in motor milestones. Conclusions: This study provides a significant data on one of the largest cohort of patients with CMDs from India. Immunohistochemistry (IHC) has definitely helped us to categorize 56 patients into specific subtypes of CMDs. This is essential for directing genetic analysis which is imperative for definitive diagnosis and also prenatal diagnosis.
  - 3,720 90
Online since 20th March '04
Published by Wolters Kluwer - Medknow