Downward Vertical Gaze Palsy As A Prominent Manifestation Of Episodic Ataxia Type 2: A Case Report

How to Cite This Article: Shervin Badv R, Niksirat A. Downward Vertical Gaze Palsy As A Prominent Manifestation Of Episodic Ataxia Type 2: A Case Report. Iran J Child Neurol. 2013 Autumn; 7(4):58- 60. ObjectiveEpisodic ataxia type 2 (EA2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, vomiting, dysarthria, or nystagmus.We report a case of EA2, which downward gaze palsy exists as a common sign in all her attacks. Responsiveness of EA2 to acetazolamide was observed in this patient. ReferencesOuvrier R, Aicardi J. Disorders of the peripheral nerves. In: Aicardi J, Bax M, Gillberg C, editors.Diseases of the nervous system in Childhood. 3rd ed. London: Mackeith Press; 2009.Swaiman KF, Ashwal S, Ferriero DM, Schor NF. Pediatric neurology: principles & practice. 5th ed. London: Elsevier Saunders; 2012.National Ataxia Foundation. Minneapolis: National Ataxia Foundation; 2007 (cited 2007 Feb). Available from: URL: http://www.ataxia.org.Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, et al. Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Ann Neurol. 2003;54(6):725-31.Brunt ER, van Weerden TW. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 1990;113(5):1361-82.Jen J. Familial Episodic Ataxias and Related Ion Channel Disorders. Curr Treat Options Neurol 2000;2(5):429-31.Fenichel M. Clinical Pediatric Neurology: A Signs and Symptoms Approach. 6th ed. Philadelphia: Elsevier Saunders; 2009. P.227-247.Griggs RC, Moxley RT 3rd, Lafrance RA, McQuillen J. Hereditary paroxysmal ataxia: response to Acetazolamide. Neurology 1978;28(12):1259-64.Scoggan KA, Friedman JH, Bulman DE. CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid. Can J Neurol Sci 2006;33(1):68-72.Kim JM, Kim JS, Ki CS, Jeon BS. Episodic Ataxia Type 2 due to a Deletion Mutation in the CACNA1A Gene in a Korean Family. J Clin Neurol 2006;2(4):268-71.Bain PG, O’Brien MD, Keevil SF, Porter DA. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 1992;31(2):147-54.Gancher ST, Nutt JG. Autosomal dominant episodic ataxia: a heterogeneous syndrome. Mov Disord. 1986;1(4):239-53.Lubbers WJ, Brunt ER, Scheffer H, Litt M, Stulp R, Browne DL, et al. Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide. J Neurol Neurosurg Psychiatry 1995;59(4):400-5.Shapiro MS, Gomeza J, Hamilton SE, Hille B, Loose MD, Nathanson NM, et al. Identification of subtypes of muscarinic receptors that regulate Ca2+ and K+ channel activity in sympathetic neurons. Life Sci 2001;68(22-23):2481-7.Baloh RW. Episodic vertigo: Central nervous system causes. Curropin Neurol 2002;15(1):17-21VanDyke DH, Griggs RC, Murphy MJ, Goldstein MN. Hereditary myokymia and periodic ataxia. J Neurolog Sci 1975;25(1):109-18.Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004;62(1):17-22.Singhvi JP, Prabhakar S, Singh P. Episodic ataxia: a case report and review of literature. Neurol India 2000;48(1):78-80.

The Impact of Manual Ability Level on Participation of Children with Cerebral Palsy in Life Areas

AbstractObjectivesParticipation is a complex and context-dependent concept, which several factors can influence it. The aim of this study was assessing the relationship between the upper extremity function level of children with cerebral palsy (all type of cerebral palsy and severity) and their participation in different life areas.Materials & MethodsThis cross-sectional study assessed the relationship between the level of upper extremity function of cerebral palsy children and their participation in different life areas. Participants were 274 parents of children with cerebral palsy of the schools of children with pecial needs and occupational therapy clinics in Tehran, Iran in 2018.They completed the Manual Ability Classification System (MACS) to determine the level of upper extremity function of children with cerebral palsy and Children Participation Assessment Scale-Parent version (CPAS-P) (to determine the participation level of children with cerebral palsy) questionnaires separately.ResultsThe mean age of children was 8 yr and 8 months old (at least 6 yr and maximum 12 yr). The correlation between the level of upper extremity function and the overall score of each dimension of participation is significant (P<0.05) and moderate.ConclusionThe upper extremity function of children with cerebral palsy has a moderate and significant relationship with the participation of children with cerebral palsy in different life areas and withdifferent dimensions of participation especially parental satisfaction dimension. Therefore, there is a correlation between upper extremity function and participation in occupations, but this relationship is moderate and is not very strong

Hemi-ESES associated with agenesis of the corpus callosum and normal cognition.

Corpus callosum plays the important role in bilateral synchronous expression of focal discharges of ESES. Sparing dominant hemisphere form continuous spike and slow waves during sleep accounts for normal cognitive scores. Early detection and treatment of ESES have a great impact on cognitive and language scores and final prognosis

The Efficacy of the Ketogenic Diet in Improving Seizures and EEG Findings in Patients with Refractory Infantile Spasms

Abstract ObjectivesInfantile spasm is an epileptic disorder of early childhood and infancy and is characterized by cluster epileptic spasms and abnormal EEG findings. Developmental delay is prevalent. Some studies haveindicated the significant effect of the Ketogenic Diet (KD) on intractable spasms in children who are unresponsive to first-line treatments. It has been used successfully as a first-line treatment withfewer side effects than ACTH.Materials & MethodsThis was an interventional study in which the effectiveness of KD over a six-month period was evaluated in patients with infantile spasms. Those who fulfilled the inclusion criteria and were willing touse the diet received free cans of the 4:1 ketogenic formula. The diet was prescribed based on the Johns Hopkins protocol in the outpatient setting. All patients used a full formula diet for one month. After a month, the patients were examined by a neurologist and a dietitian, and an EEG was obtained to compare pre- and post-KD findings. In order to compare pre- and post-KD seizures, the maximum number of seizures was multiplied by the longest duration of seizures ResultsTen patients were assessed for one month. Using the KD led to significant changes in seizures/clusters and EEG findings. Nine parents reported improvement in their children’s social interactionsafter using the KD. ConclusionBased on the findings of this study, the KD can control seizures in patients suffering from infantile spasms by reducing seizure frequency & duration and improving EEG finding

CNS Structural Anomalies in Iranian Children with Global Developmental Delay

How to Cite This Article: Zamani GH, Shervin Badv R, Niksirat A, Alizadeh H. CNS Structural Anomalies in Iranian Children with Global Developmental Delay. Iran J Child Neurol. 2013 Winter; 7 (1):25-28. ObjectiveCentral Nervous system (CNS) malformations are one of the most important causes of global developmental delay (GDD) in Children. About one percent of infants with GDD have an inherited metabolic disorder and 3-10 percent have a chromosomal disorder. This study aimed to survey the frequency of brain structural anomalies and their subtypes among the variety of etiologic factors in children with GDD in our patients.Materials & MethodsThis study used the results of neuroimaging studies [unenhanced brain Magnetic Resonance Imaging (MRI)] of all children who had been referred for evaluation of GDD to outpatient Clinic of Pediatric neurology at Children’s Medical Center affiliated to Tehran University of Medical Science between September 2009 and September 2010.ResultsIn this study, unenhanced brain MRI was performed on 405 children, of which80 cases (20 percent) had brain structural anomalies. In 8.7 percent of the cases, previous history of brain structural disorders existed in other children of the family and 20 percent of mothers had inadequate consumption of folate during pregnancy.ConclusionBased on the results of this study, unenhanced cranial MRI seems to be a fundamental part of evaluation in all children with GDD. Adequate folate consumption as prophylaxis as well as genetic counseling can be worthy for high-risk mothers who have previous history of CNS anomaly or miscarriage to avoid repeated CNS anomalies in their next pregnancies. References1. Fenichel M. Clinical Pediatric Neurology: A Signs and Symptoms Approach. 6th ed. Philadelphia: Saunders; 2009. p. 119-52.2. A guide to investigation of children with developmental delay in East Anglia 2005Available from:http://www. phgfoundation.org/file/2366.3. Williams J. Global developmental delay–globally helpful? Dev Med Child Neurol 2010;52(3):227.4. Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, et al. Practice parameter: Evaluation of the child with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 2003;60(3):367-80.5. Whiting K. Investigating the child with learning difficulty.Current Pediatrics 2001;11(4):240-7.6. Aicardi J. The etiology of developmental delay. Semin Pediatr Neurol 1998;5(1):15-20.7. Von Wendt L, Rantakallio P. Congenital malformations of the central nervous system in a 1-year birth cohort followed to the age of 14 years. Childs Nerv Syst.1986;2(2):80-2.8. Kuzniecky R, Murro A, King D, Morawetz R, Smith J, Powers R, et al. Magnetic resonance imaging in childhood intractable partial epilepsy: Pathologic correlations. Neurology1993;43:681-7.9. Massimi L, Paternoster G, Fasano T, et al: On the changing epidemiology of hydrocephalus. Childs Nerv Syst. 2009;25(7):795-800.10. Warkany J, Lemire RJ, Cohen Jr MM. Mental retardation and congenital malformations of the central nervous system. Chicago: Year Book Medical Publishers; 1981.11. Petrini J, Damus K, Johnston RB Jr. An overview of infant mortality and birth defects in the United States. Teratology. 1997;56(1-2):8-10.12. Rosano A, Botto LD, Botting B, Mastroiacovo P. Infant mortality and congenital anomalies from 1950 to 1994: an international perspective. J Epidemiol Community Health 2000; 54(9):660-6.13. Cordero JF. Finding the causes of birth defects. The New England Journal of Medicine. 1994;331(1):48-9.14. Srour M, Mazer B, Shevell MI. Analysis of Clinical Features Predicting Etiologic Yield in the Assessment of Global    Developmental    Delay.Pediatrics    2006 ;118(1):139-45.15. Meral O, Burak T, Nur A. Etiologic evaluation in 247 children with GDD at Istanbul, Turkey. J Trop Pediatr 2005;51(5):310-3.16. World Health Organization. Weekly Iron-Folic Acid Supplementation (WIFS) in women of reproductive age: its role in promoting optimal maternal and child health. Geneva, World Health Organization, 2009. WHO/NMH/ NHD/MNM/09.2. p. 2. 

Clonidine Versus Chloral Hydrate for Recording Sleep EEG in Children

ObjectiveOne of the difficulties for conduct electroencephalography (EEG) in pediatric patient population is that they are not always cooperative during the procedure. Different medications have been used to induce sedation during EEG recording. In order to find a medication with least adverse effects and high efficacy, we aimed to compare clonidine and chloral hydrate as a premedication prior EEG performing in pediatric population. Materials & MethodsA prospective, randomized, single-blinded, controlled trial was carried out over 198 children (9 to 156 months) to investigate the sedative and adverse effects of clonidine and chloral hydrate. Patients, partially sleep-deprived the night before, were randomly divided in two groups of clonidine (100 patients) and chloral hydrate (98 patients), on an alternative day basis.Results The average sleep onset latency was significantly longer in the clonidine group than chloral hydrate group (Mann-Whitney test, p < 0.0001). Sleep duration ranged between 15-150 minutes and it was not significantly different between two groups (Mann-Whitney test p = 0.2). Drowsiness with chloral hydrate terminated faster than with clonidine. Drowsiness after arousal was seen in 58% and 26.1% of patients in the clonidine and chloral hydrate groups respectively that was  significant  (Mann-Whitney test, p = 0.058). EEG results were reported normal in 77 subjects in the chloral hydrate group (77%) and in 69 subjects (69%) in the clonidine group (p = 0.161). Generalized epileptiform discharges  reported significantly  in the clonidine group  (Mann-Whitney test , p = 0.006).ConclusionThe results of this study showed that both chloral hydrate 5% (one ml/kg)and clonidine (4 μg/kg)could be administered as a pre medication agent for EEG recording in children , although drowsiness after arousal of clonidine is greater than chloral hydrate . However, the yield of generalized epileptiform discharges in the clonidine group was more than the chloral hydrate group.

The first febrile seizure; predisposing factors and recurrence rate

  Objective Febrile seizure is the most common worrisome neurologic disorder in children in terms of parental point of view. The purpose of this study was to answer distressing parents’ questions about the prevalence and possibility of febrile seizure recurrence. Materials & Methods 140 patients who were admitted due to the first febrile seizure in the six months (March up to September) of the year 2015 were enrolled to this study. Exclusion criteria include central nervous system infection, non-confirmed febrile seizure and lack of parental acceptance for long-term inclusion in this study. All children were followed in terms of second febrile seizure during one year follow-up from the time of first febrile seizure. (3 sentences were deleted). Results Recurrence of febrile seizure was 25.7 % during one-year follow-up. Significant risk factors for recurrence include: age less than one year old, male gender, seizure with low level of fever, family history of epilepsy, family history of febrile seizure, complex febrile seizure (focal and repeated in 24 hours), seizure duration more than 15 minutes and parental indifference to the onset of fever in their children before seizure occurrence. Although duration of fever before seizure, failure to thrive, positive history of admission in neonatal period, dystocia atbirth delivery and children with day care staying were associated with greater febrile seizure recurrence; but, they did not have significant relationship with recurrence rate. Prophylaxis with benzodiazepine reduced the recurrence rate. Conclusion Chance of febrile seizure recurrence in one-year follow-up increased in presence of risk factors expressed in finding part. parental indifference to the onset of fever in their children that is starting before seizure was a considerable risk factor in terms of recurrence prevalence. We recommended to emphasis on parental education about this new finding as a risk factor for febrile seizure in order to prevent its future recurrence

A Comparative Study of EEG and aEEG in Seizure Diagnosis in Infants Admitted to the NICU

ObjectivesSeizure is a common sign in neonates hospitalized in the neonatal intensive care units (NICU) that may lead to morbidity and mortality. Most neonatal seizures are subclinical. Conventional EEG (cEEG) is the gold standard for detecting and monitoring seizures but is not widely available. Amplitude-integrated electroencephalography (aEEG) has been used for over a decade to evaluate infants with seizures. In this study, we tried to determine the efficacy of aEEG asa widely available diagnostic tool in diagnosing seizures.Materials & MethodsAll cases with seizures or suspicious seizures were admitted to the NICU of the Children’s Medical Center for one year. cEEG and aEEG were performed for these infants. aEEG was recorded for at least six hours with a description of the tracing. Clinical information, outcomes, and questionnaires (patient information) were recorded in detail. The obtained data were analyzed with the SPSS version 24 software.ResultsEleven out of twenty-five aEEG recordings were abnormal; other patients showed normal aEEGs. The most common clinical and neurological manifestations were seizure (68%) and hypotonia (28%); the mortality rate was 12%. No significant correlation was observed between aEEG findings and gender, age, familial relation, outcome, ultrasound result, type of seizure, and underlying disease

Lysosomal Storage Disease in Iran (Report of Molecular Study)

How to Cite this Article: Houshmand M, Tonekaboni SH, Karimzadeh P, Aryani O, AshrafiMR, Salehpour Sh, Badv Sh, Shakiba M, Alaee MR, Farshid Sh. Lysosomal Storage Disease inIran. (Report of Molecular Study). Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1): 22. Pls see PDF

Normal Values of Nerve Conduction Studies in Children Aged 7 Days to 14 Years Referred to Electrodiagnosis Clinic of Iranian Children’s Medical Center

Background: The normal values of nerve conduction studies (NCS) are different in children compared to adults. Moreover, racial and geographical factors can affect these values. Objectives: The present study aimed to investigate the normal NCS values in children of different ages. Methods: The present cross-sectional study included children referred to the Electrodiagnosis Clinic of the Children’s Medical Center in Iran, who had normal NCS results based on the references and had no exclusion criteria. The patients were divided into 8 age groups (7 days to one month, 1 - 3 months, 3 - 6 months, 6 - 12 months, 1 - 2 years, 2 - 4 years, 4 - 6 years, and 6 - 14 years), and the NCS was performed using a Nihon Kohden electromyogram. The NCS values in the normal range were included in the analysis. Results: The normal ranges of amplitude and conduction velocity of 4 motor nerves (median, ulnar, deep peroneal, and tibial) and 2 sensory nerves (median and medial plantar), as well as the F-wave latency values of 2 nerves (ulnar and tibial), were established as the reference values for the pediatric patients. Conclusions: The NCS parameters of Iranian children were slightly different from the normal references reported by studies in other countries. Moreover, the SNAP and CMAP amplitudes and motor conduction velocity of these children usually reached the normal values of the adult population earlie