Type 2 Gaucher Disease (Acute Infantile Gaucher Disease or Neuropathic Type)

How to Cite this Article: Taghdiri MM. Type 2 Gaucher Disease (Acute Infantile Gaucher Disease or Neuropathic Type). Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):12. Pls see PDF.

Childhood Epilepsy; Prognostic Factors in Predicting the Treatment Failure

How to Cite This Article: Taghdiri MM, Omidbeigi M, Asaadi S, Mohebbi M, Azarghashb E, Ghofrani M. Childhood Epilepsy; Prognostic Factors in Predicting the Treatment Failure. Iran J Child Neurol. Winter 2017; 11(1):21-28.AbstractObjectiveWe aimed to find the prognostic factors to detect the patients who fail the treatment of epilepsy, in the early stages of the disease.Materials & MethodsThis study was done on the epileptic patients attending the Neurology Clinic of Mofid Children’s Hospital, Tehran, Iran from September 2013 to October 2014. After defining the criteria for exclusion and inclusion, the patients were divided to two groups based on responding to the medical treatment for their epilepsy and indices were recorded for all the patients to be used in the statistical analyses.ResultsThe patients’ age ranged from 1 to 15 yr. There was 188 patients with refractory seizure in group 1 (experimental group) and 178 patient with well controlled seizure in group 2(control group).There was a significant different between serum drug level in both groups and patients with refractory seizure group had a lower serum drug level than control group. In both groups tonic-clonic was the most common type of seizure. Also the prevalence of brain imaging Abnormalityand other neurologic disorders was significantly higher in patients with refractory seizure in compare with control group.ConclusionChildren with seizure who suffer from refractory epilepsy need more attention and exact observation by the medical staff. References 1. Kozyrskyj AL, Prasad AN. The burden of seizures in Manitoba children: a population-based study. Can J Neurol Sci 2004;31:48-52. 2. Camfield PR, Camfield CS, Gordon Kandet al. If a first antiepileptic drug fails to control a child’s epilepsy, what are the chances of success with the next drug? J Pediatr 1997; 131:821-4.3. Arts WF, Brouwer OF, Peters ACet al. Course and prognosis of childhood epilepsy: 5-year follow-up of the Dutch study of epilepsy in childhood. Brain 2004;127:1774–84.4. Berg AT, Shinnar S, Levy SR, et al. Early Development of intractable epilepsy in children: a prospective study. Neurology 2001;56:1445–52.5. Berg AT, Vickrey BG, Testa FM, et al. How long does it take for epilepsy to become intractable? A prospective investigation. Ann Neurol 2006;60:73–9. 6. Kwan P, Brodie M. Early identification of refractory epilepsy. N Eng J Med2000;342:314–9.7. Mohanraj R, Brodie MJ. Diagnosing refractory epilepsy: response to sequential treatment schedules. Eur J Neurol 2006;13:277–82.8. Berg A. Identification of Pharmacoresistant Epilepsy. Neurol Clin 2009;27(4):1003-1013.9. Luciano AL, Shorvon SD. Results of treatment changes in patients with apparently drug-resistant chronic epilepsy. Ann Neurol 2007;62:375–381. 10. Carpay HA, Arts WF, GeertsAT, et al. Epilepsy in childhood: An audit of clinical practice. Arch Neurol 1998;55:668–73.11. Dudley RW, Penney SJ, Buckley DJ. First-drug treatment failures in children newly diagnosed with epilepsy. Pediatr Neurol 2009;40:71–7.12. Berg AT, Vickrey BG, Testa FM, et al. How long does it take epilepsy to become intractable? A prospective investigation. Ann Neurol 2006;60:73–79.13. Spooner CG, Berkovic SF, Mitchell LA, et al. New onset temporal lobe epilepsy in children: lesion on MRI predicts poor seizure outcome. Neurology 2006;67:2147–2153. 14. Robinson RO, Baird G, Robinson Get al. Landau– Kleffner syndrome: course and correlates with outcome. Dev Med Child Neurol2001;43:243-7.15. Berg AT, Shinnar S, Levy SR, et al. Defining early seizure outcomesin pediatric epilepsy: the good, the bad and the in-between. Epilepsy Res 2001;43:75-84.16. Shinnar S, Berg AT. Does antiepileptic drug therapy prevent the development of ‘‘chronic’’ epilepsy? Epilepsia 1996;37:701-8.Neurol Clin 2009;27(4):1003-1013.17. Engel J. The goal of epilepsy therapy: no seizures, no side effects,as soon as possible. CNS Spectrums 2004;9:95–97.18. Mathern GW, Pretorius JK, Babb TL. Influence of the type ofinitial precipitating injury and at what age it occurs on courseand outcome in patients with temporal lobe seizures. J Neurosurg1995;82:220 –227.19. Cross JH, Jaykar P, Nordli D and et al. Propose criteria for referraland evaluation of children for epilepsy surgery: recommendations of the Subcomission for Pediatric Epilepsy Surgery. Epilepsia2006;47:953–959.20. Weiner HL, Carlson C, Ridgway EBet al. Epilepsy surgery inyoung children with tuberous sclerosis: results of a novel approach. Pediatrics 2006;117:1494 –1502.21. Del Felice A, Beghi E, Boero G, La Neve A, Bogliun G, De Palo A, et al. Early versus late remission in a cohort of patients with newly diagnosed epilepsy. Epilepsia 2010;51(1):37-42.22. Levy SR, Novotny EJ, Shinnar S. Predictors of intractable epilepsy in childhood: a case–control study. Epilepsia 1996;37:24–30.23. Berg AT, Shinnar S, Levy SR and et al. Smith- Rappaport S, Beckerman B. Early development of intractable epilepsy in children: a prospective study. Neurology2001;56:1445–52.24. Casetta I, Granieri E, Monetti VC et al. Early predictors of intractability in childhood epilepsy: a community-basedcase–control study in Copparo, Italy. Acta Neurologica Scandinavica 1999;99:329–33.25. Chawla S, Aneja S, Kashyap Ret al. Etiology and clinical predictors ofintractable epilepsy. Pediatric Neurology 2002;27:186–91.26. Ko TS, Holmes GL. EEG and clinical predictors of medically intractable childhood epilepsy. Clin Neurophysiol 1999;110:1245–51. 27. Kwong KL, Sung WY, Wong SN, et al. Early predictors of medical intractability in childhood epilepsy. Pediatr Neurol2003;29:46–52.28. Oskoui M, Webster RI, Zhang X and et al. Factors predictive of outcome inchildhood epilepsy. J Child Neurol 2005;20:898–904.29. Seker Yilmaz B, Okuyaz C, Komur M. Predictors of Intractable Childhood Epilepsy. Pediatr Neurol 2013;48(1):52-55.30. Kim S, Park K, Kim S, Kwon O, No S. Presence of epileptiform discharges on initial EEGs are associated with failure of retention on first antiepileptic drug in newly diagnosed cryptogenic partial epilepsy: A 2-year observational study. Seizure 2010;19(9):536-539.31. Callaghan B, Anand K, Hesdorffer D, Hauser W, French J. Likelihood of seizure remission in an adult population with refractory epilepsy. Ann Neurol 2007;62(4):382- 389.32. Arhan E, Serdaroglu A, Kurt A, Aslanyavrusu M. Drug treatment failures and effectivity in children with newly diagnosed epilepsy. Seizure 2010;19(9):553-557

Neuroimaging Findings of the High-risk Neonates and Infants Referred to Mofid Children’s Hospital

Abstract Objectives Neuroimaging in high-risk neonates and infants is done to help child neurologists predict the future neurodevelopmental outcome of these children. In this study, we assessed high-risk neonates and infants admitted to the NICU or neonatal wards of Mofid children’s Hospital, especially regarding clinical development and brain imaging Materials & Methods This cross-sectional study was conducted on 170 patients admitted to the neonatal and NICU ward of Mofid children’s Hospital.Considering the inclusion criteria, 112 patients were included in this project. Brain ultrasonography was performed on almost all of these babies by a single radiologist. Some patients underwent a brain CT scan, and brain MRI without contrast was done on the others. These images were interpreted and compared by a single pediatric neuroradiologist blinded to clinical data. All of these babies were followed up until 18 months of age. Results In this study, 57.1% of the patients were male and 42.9% were female. Of 44 patients who obtained Electroencephalogram (EEG) during the hospitalization period with probable seizure, 25 (56.8%) had normal EEGs. Of 89 babies who were examined by ultrasound, 19 (21.3%) had abnormal findings; ventriculomegaly and then germinal matrix hemorrhage (GMH) were the most common abnormalities.Also, 27 cases (71.1%) of 38 patients undergoing a CT scan had abnormal findings. The most common findings were a hypodense area in the white matter and ventriculomegaly. Of 41 patients who underwent MRI between 1 and 27 months, 34 cases (82.9%) had an abnormal MRI. The most common findings were periventricular hyperintensities in 17 cases (41.5%), mildly delayed myelination in 15 cases (36.6%), and severe brain atrophy or thinning of corpus callosum or white matter volume loss in seven cases (17.1%). During the follow-up period, which was 18.55 ± 6.56 months, 79 (70.5%) of the children had normal development and 33 (29.5%) were suffering from a global neurodevelopmental delay. More precisely, 49 (43.7%) and 35 (31.2%) patients had motor development delay and delayed verbal development, respectively. The abnormal findings of brain imaging in the ultrasound, CT scan, and MRI were all significantly associated with an adverse neurodevelopmental outcome (P <0.001, P = 0.02, and P <0.001, respectively). ConclusionIn this study, we showed that at any time before six months or afterone year of age, the result of brain MRI was a strong predictor of thepatient’s outcome

Bis[1,3-bis­(2-cyano­phen­yl)triazenido]mercury(II)

In the title compound, [Hg(C14H8N5)2], the central atom is four-coordinated by two bidentate 1,3-bis­(2-cyano­phen­yl)triazenide ligands in a distorted square-planar geometry. The asymmteric unit is composed of one ligand molecule and one HgII ion, which is disordered over two sites, one lying on an inversion center and the other on a general position with site-occupancy factors of 0.2378 (7) and 0.3811 (7), respectively. The monomeric mol­ecules of the complex are linked into pairs through non-classical C—H⋯N hydrogen bonds. The resulting dimeric units are assembled by translation along the crystallographic c axis into chains linked through secondary π–π inter­actions [centroid–centroid distances = 3.685 (2) and 3.574 (2) Å], as well as C—H⋯π stacking inter­actions, resulting in a two-dimensional architecture

Clinical and Epidemiological Aspects of Multiple Sclerosis in Children

How to Cite This Article: Nasehi MM, Sahraian MA, Naser Moghaddasi A, Ghofrani M, Ashtari F, Taghdiri MM, Tonekaboni SH, Karimzadeh P, Afshari M, Moosazadeh M. Clinical and Epidemiological Aspects of Multiple Sclerosis in Children. Iran J Child Neurol. Spring 2017; 11(2):37-43.AbstractObjectiveOverall, 2%-5% of patients with multiple sclerosis (MS) experienced the first episode of disease before the age 18 years old. Since the age of onset among children is not similar to that in general population, clinicians often fail to early diagnose the disease. This study aimed to determine the epidemiological and clinical patterns of MS among Iranian children.Materials & Methods In this cross-sectional study carried out in Iran in 2014-2015, information was collected using a checklist with approved reliability and validity. Method sampling was consensus. Data were analyzed using frequency, mean and standard deviation indices by means of SPSS ver. 20 software.Results Totally, 177 MS children were investigated. 75.7% of them were female. Mean (SD), minimum and maximum age of subjects were 15.9 (2), 7 and 18 yr, respectively. The most reported symptoms were sensory (28.2%), motor (29.4%), diplopia (20.3%) and visual (32.8%). Primary MRI results showed 91.5% and 53.1% periventricular and spinal cord lesions, respectively.Conclusion MS is significantly more common among women. The most common age of onset is during the second decades. Sensory and motor problems are the most symptoms, while, periventricular and spinal cord lesions are the most MRI results. References 1. Ascherio A, Munger K. Epidemiology of multiple sclerosis: from risk factors to prevention. Semin Neurol 2008; 28(1): 17-28.2. Abedidni M, Habibi Saravi R, Zarvani A, Farahmand M. Epidemiologic study of multiple sclerosis in Mazandaran,Iran, 2007. J Mazandaran Univ Med Sci 2008; 18(66): 82-6.3. Taghdiri MM, Gofrani M, Barzegar M, Moayyedi A, Tonekaboni H. The survey of 20 cases of multiple sclerosis in children in mofid hospital of Tehran. J Rehabil, 2001; 4(6-7):61-67.4. Benito-Leon J, Martinez P. Health-related quality of life in multiple sclerosis. Neurologia 2003; 18: 207-10.5. Nedjat S, Montazeri A, Mohammad K, Majdzadeh R, Nabavi N, Nedjat F, et al . Quality of Life in Multiple Sclerosis Compared to the Healthy Population in Tehran. Iran J Epidemiol 2006; 2 (3 and 4) :19-24.6. Marrie RA. Environmental risk factors in multiple sclerosis aetiology. Lancet Neurol 2004; 3(12):709-18.7. Milo R, Kahana E. Multiple sclerosis:geoepidemiology, genetics and the environment. Autoimmun Rev 2010; 9(5): A387-A394.8. Banwell B, Ghezzi A, Bar-Or A, Mikaeloff Y. Multiple sclerosis in children: clinical diagnosis, therapeutic strategies, and future directions. The Lancet Neurol, 2007;6(10):887-902.9. Ebers GC. Environmental factors and multiple sclerosis. The Lancet Neurol, 2008;7(3):268-277.10. Noseworthy JH, Lucchinetti C, Rodriguez M, Weinshenker BG. Multiple Sclerosis. N Engl J Med 2000; 343(13):938-52.11. Rudick RA, Cohen JA, Weinstock-Guttman B, Kinkel RP, Ransohoff RM. Management of multiple sclerosis. N Engl J Med 1997: 337(22): 1604-11.12. Greer JM, McCombe PA. Role of gender in multiple sclerosis: clinical effects and potential molecular mechanisms. J Neuroimmunol 2011;234(1-2): 7-18.13. Boiko A, Vorobeychik G, Paty D, Devonshire V, Sadovnick D. Early onset multiple sclerosis A longitudinal study. Neurology 2002; 59(7):1006-1010.14. . Ashtari F, Shaygannejad V, Heidari F, Akbari M. Prevalence of Familial Multiple Sclerosis in Isfahan, Iran. Journal of Isfahan Medical School, 2011;29(138.2):555- 561.15. Mazaheri S, Fazlian M, Hossein Zadeh A. Clinical and Epidemiological Features of Early and Adult Onset Multiple Sclerosis in Hamedan, Iran, 2004–2005. Yafteh 2008; 9 (4) :39-44.16. Saman-Nezhad B, Rezaee T, Bostani A, Najafi F, Aghaei A. Epidemiological Characteristics of Patients with Multiple Sclerosis in Kermanshah, Iran in 2012. J Mazand Univ Med Sci 2013; 23(104): 97-101 (In Persian).17. Renoux C, Vukusic S, Mikaeloff Y, Edan G. Natural history of multiple sclerosis with childhood onset. N Engl J Med 2007. 356(25): p. 2603-2613.18. Ness JM, Chabas D, Sadovnick AD, Pohl D, Banwell B, Weinstock-Guttman B. Clinical features of children and adolescents with multiple sclerosis. Neurology 2007; 68(16 suppl 2):S37-S45.19. Etemadifar M, Janghorbani M,Shaygannejad V, Ashtari F . Prevalence of multiple sclerosis in Isfahan. Iran. Neuroepidemiology 2006; 27(1):39-44 (In Persian).20. Saadatnia M, Etemadifar M, Maghzi AH. Multiple sclerosis in Isfahan, Iran. Int Rev Neurobiol 2007; 79: 357-75.21. Nabavi SM, Poorfarzam S, Ghassemi H. Clinical Course and prognosis of 203 patients with MS in shahid Mostafa Khomeini Hospital, Tehran 2002, Tehran University Medical Journal, 200l 64( 7)6: 90-97

Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study

 How to Cite This Article: Tonekaboni SH, Ebrahimi A, Bakhshandeh Bali MK, Houshmand M, Moghaddasi M, Taghdiri MM, Nasehi MM. Sodium Channel Gene Mutations in Children with GEFS+ and Dravet Syndrome: A Cross Sectional Study. Iran J Child Neurol. 2013 Winter; 7 (1):25-29. Objective Dravet syndrome or severe myoclonic epilepsy of infancy (SMEI) is a baleful epileptic encephalopathy that begins in the first year of life. This syndrome specified by febrile seizures followed by intractable epilepsy, disturbed psychomotor development, and ataxia. Clinical similarities between Dravet syndrome and generalized epilepsy with febrile seizure plus (GEFS+) includes occurrence of febrile seizures and joint molecular genetic etiology. Shared features of these two diseases support the idea that these two disorders represent a severity spectrum of the same illness. Nowadays, more than 60 heterozygous pattern SCN1A mutations, which many are de novo mutations, have been detected in Dravet syndrome. Materials & Methods From May 2008 to August 2012, 35 patients who referred to Pediatric Neurology Clinic of Mofid Children Hospital in Tehran were enrolled in this study. Entrance criterion of this study was having equal or more than four criteria for Dravet syndrome. We compared clinical features and genetic findings of the patients diagnosed as Dravet syndrome or GEFS+. Results 35 patients (15 girls and 20 boys) underwent genetic testing. Mean age of them was 7.7 years (a range of 13 months to 15 years). Three criteria that were best evident in SCN1A mutation positive patients are as follows: Normal development before the onset of seizures, onset of seizure before age of one year, and psychomotor retardation after onset of seizures. Our genetic testing showed that 1 of 3 (33.3%) patients with clinical Dravet syndrome and 3 of 20 (15%) patients that diagnosed as GEFS+, had SCN1A mutation. Conclusion In this study, normal development before seizure onset, seizures beginning before age of one year and psychomotor retardation after age of two years are the most significant criteria in SCN1A mutation positive patients.References Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O.Severe myoclonic epilepsy in infancy (Dravet syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic Syndromes in Infancy, Childhood and Adolescence, 4th  ed. London: John Libbey Eurotext Publishers; 2005. p. 89-113.Dalla Bernardina B, Colamaria V, Capovilla G, Bondavalli S. Nosological classification of epilepsies in the first three years years of life. Prog Clin Biol Res 1983;124:165-83.Commission on Classification and Terminology of the International League against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-99.Scheffer IE, Zhang. YH, Jansen FE, Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009;31(5):394-400.Singh R, Andermann E, Whitehouse WP, Harvey AS, Keene DL, Seni MH, et al. severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 2001;42(7):837-44.Scheffer IE, Harkin LA, Dibbens LM, Mulley JC, Berkovic SF. Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). Epilepsia 2005;46 Suppl 10:41-7.Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, et al. The spectrum of SCN1A-related infantile enceptic encephalopathies. Brain 2007;130(Pt 3):843-52.Sun H, Zhang Y, Liang J, Liu X, Ma X, Qin, et al. Seven novel SCN1A mutations in Chinese patients with severe myoclonic epilepsy of infancy. Epilepsia 2008;49:1104-7.Miller SA, Dykes DD, polesky HF. A simple salting out procedure  for  extracting  DNA from  human  cucleated Nucleated cells. Nucleic Acids Res 1988;16(3):2115.Marini C, Scheffer IE, Nabbout R, Mei D, Cox K, Dibbens LM, et al. SCN1A duplications and deletions detected in dravet syndrome: implications for molecular diagnosis. Epilepsia 2009; 50(7):1670-8.Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, et al. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype- correlations. Epilepsia 2007;48(6):1092-6.Wang JW, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, et al. Micro chromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia 2008;49(9):1528-34.Lossin C. A catalog  of  SCN1A variants.  Brain  Dev 2009;31:114-30.Fountain-Capal JK, Holland KD, Gilbert DL, Hallinan BE When should clinicians order genetic testing for Dravet syndrome? Pediatr Neurol 2011;45(5): 319-23. Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki  N,  et  al. A screening  test  for  the  prediction of Dravet syndrome before one year of age. Epilepsia 2008;49(4):626–33.Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, et al. spectrum of SCN1A mutations severe myoclonic epilepsy of infancy. Neurology 2003;60(12):1961-7.Ohmori I, Ouchida M, Ohtsuka, Y oka E, Shimizu K. Significant correlation  of  The  SCN1A mutations  and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.Cales. L, Del-favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De jonghe P. De novo mutations in the sodium- chnnel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001; 68(8):1327-32.Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM.Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain 2012;135(Pt 8):2329-36.Engel J Jr; International League Against Epilepsy (ILAE).A proposed diagnostic scheme for people with epileptic seizures  and  with  epilepsy:  report  of  the  ILAE Task force  on  Classifications  and  Terminology.  Epilepsia 2001;42(6):796-803.Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic- clonic seizures. Brain 2003;126:(Pt 3):531-46.Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 2003;21(6):615-21.Lakhan R, Kumari R, Misra UK, Kalita J, Pradhan S, Mittal B. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br J Clin Pharmacol 2009;68(2):214-20

Prediction of response to treatment in children with epilepsy

Objective: Predicting the response to treatment in patients treated  with anti-epilepsy drugs are always a major challenge. This study was conducted to predict the response to treatment in patients with epilepsy.Material and Methods: This analytical questionnaire-based study was conducted in 2014 among patients with epilepsy admitted to Mofid Children's Hospital. The inclusion criteria were children 2 months to 12 years of age with epilepsy and patients who experienced fever and seizure attacks at least once were excluded from the study. After the initial recording of patient information, patients were followed up for 6 months and the response to their treatment was recorded. The response to good treatment was defined as the absence of maximum seizure with two drugs during follow up.Result: This study was conducted among 128 children with seizure. 72 patients (56.3%) were boys. The age of the first seizure was under 2 years old in 90 patients (70.3%). History of febrile convulsion, family history of seizure and history of asphyxia was found in 16 patients (12.5%), 41 patients (32%), 27 (21.1%), respectively.  IQ was decreased in 79 patients (61.7%). Seizure etiology was idiopathic in 90 patients (70.3%), and the number of seizures was 1 - 2 in 36 patients (28.1%). 57 patients (44.5%) had cerebral lesion according to CT scan or MRI, and EEG was normal in 21 patients (16.4%) and abnormal in 101 patients (78.9%). In 6-month follow-up, 40 patients (31.3%) responded well to the treatment and 88 patients (68.8%) responded poorly to the treatment. The results of multivariate analysis demonstrated that history of asphyxia (OR = 6.82), neonatal jaundice (OR = 2.81) and abnormal EEG (OR = 0.19) were effective factors in response to treatment.Conclusion: Results of univariate and multivariate analysis indicated that abnormal EEG is an effective factor in treatment response in the children studied

Evaluation of One Hundred Pediatric Muscle Biopsies During A 2-Year Period in Mofid Children And Toos Hospitals

 How to Cite This Article:Nilipor Y, Shariatmadari F, Abdollah gorji F, Rouzrokh M, Ghofrani M, Karimzadeh P, Taghdiri MM,  Delavarkasmaei H, Ahmadabadi F, Bakhshandeh bali MK, Nemati H, Saket S, Jafari N, Yaghini O, Tonekaboni SH.  Evaluation of One Hundred Pediatric Muscle Biopsies During A 2-Year Period in Mofid Children And Toos Hospitals. Iran J Child Neurol. 2013 Spring;7(2):17-21. ObjectiveMuscle biopsy is a very important diagnostic test in the investigation of a child with suspected neuromuscular disorder. The goal of this study was to review and evaluate pediatric muscle biopsies during a 2-year period with focus on histopathology diagnosis and correlations with other paraclinicstudies.Materials & MethodsWe investigated 100 muscle biopsies belonging to patients with clinical impression of neuromuscular disorder. These patients have been visited consecutively by pediatric neurologists during 2010 to 2012. Samples were investigated by standard enzyme histochemical and immunohistochemical techniques.ResultSixty-nine (69%) males and 39 (39%) females with a mean age of 5.7 years were evaluated. Major pathologic diagnoses were Muscular dystrophy (48 cases), Neurogenic atrophy (18 cases), nonspecific myopathic atrophy (12cases), congenital myopathy (6 cases), storage myopathies (4 cases) and in 6 cases there was no specific histochemical pathologic finding. EMG was abnormal in 79 cases. Degree of correlation between EMG and biopsy result was significant in children ≥ 2 years of age.ConclusionThis study confirms the high diagnostic yields of muscle biopsyespecially only if standard and new techniques such as enzyme study and immunohistochemistry are implemented. Also, we report 11 cases of Merosin negative congenital muscular dystrophy. This is the largest documented case series of Merosin deficient congenital muscular dystrophy reported from Iran. References1. Harvey B. Sarnat. Evaluation and Investigation. In:Kliegman. Stanton.Schor. Behrman.Nelson Text Book of Pediatrics.19th edition.Philadelphia: Elsevier,2011. P.2109-2112. 2. Harvey B. Sarnat and John H Menkes. Disease of TheMotore Unit. In: John H Menkes, Harvey B Sarnat, Bernard L Maria. Child Neurology. 7th edition.california: lippincott,2006.p.969-972.3. Marius Kuras Skram, Sasha Gulati, Erik Larrson. Muscle Biopsies In Children-An Evaluation Of Histopathology And Clinical Valueduring A 5-Year Period. Upsala J Med Sci 2009 March:114 (1);41-45.4. Owji M, Modaressi F. Diagnosis of Myopathies Using Histology. Histochemistry, Immunohistochemistry and Electron Microscopy 2010,12 (4):434 -440.5. Dua T, Das M, Kabra M. Spectrum of Floppy Children in Indian Scenario. Indian Pediatric J 2001, 38:1236-1243.6. Rabie M, Jossiphov J, Nevo Y. Electromyography accuracy compared to muscle biopsy in childhood. J Child Neurol 2007 jul; 22(7):803.8.

A case Report of Wolfram Syndrome

Wolfram syndrome is the association of diabetes mellitus, optic atrophy, diabetes insipidus and sensorineural deafness and is sometimes called DIDMOAD (Diabetes Insipidus, Diabets Mellitus, Optic Atrophy, and Deafness). It is a rare autosomal recessive disease with prevalence of one per 770,000. Natural history of Wolfram syndrome suggests that most patients will eventually develop most complications of this progressive neurodegenerative disorder. Juvenile–onset diabetes mellitus and optic atrophy are the best available diagnostic criteria for Wolfram syndrome. In this report clinical features of a patient with DIDMOAD syndrome is presented. A 12 year old male presented with short standing diabetes mellitus and diabetes insipidus. Further investigations showed bilateral optic atrophy, mild hearing loss and short stature. His parents were relative and he is first case in his family

Presentation of 60 Cases of Infantile Spasms Based on Etiology, Clinical Manifestation EEG and Brain CT Scan in Mofid Children Hospital

Objective: Among different epileptic syndrome infantile spasm is one of the most malignant forms which cause irrepairable brain damage in the child. Consequently the longer this type of epilepsy lasts the more harmful results will follow. The majority of children with infantile spasm are younger than one year age and only 5 percent of affected children are in the age group above one year. Materials & Methods: This descriptive study was done on 60 (36 male and 24 female) infants 2-24 months age with clinical examination, observation, interview and questionnaire  in pediatric neurology department of Mofid children hospital during two years. Results: From 60 patients (36 male and 24 female), 48 case (80%) symptomatic and 12 case (20%) cryptogenic and idiopathic. Based on clinical manifestation 35 case (58%) were flexor type. 6 case (10%) extensor and 19 cases (32%) mixed. In EEG hypsarrhythmia in all patients was seen. Brain CT scan in 11 cases showed brain atrophy and in remainder was normal. Conclusion: In our study etiologically symptomatic and clinically flexor type was more common. Hysparrhythmia in all patients was seen and brain CT scan in 80% of patients was normal