Iranian Journal of Child Neurology

How to cite this article: Sharifian M. Hypertensive Encephalopathy. Iran J Child Neurol 2012; 6(3):1-7.

Hypertension is called the silent killer and vital organs such as the brain, eyes,kidneys and the heart are the targets. Seizure, central nervous system (CNS)hemorrhage, and cerebrovascular accident (CVA), blindness and heart attacksare the end points.The prevalence of hypertension in children is much less than adults, but evidencereveals that the source of hypertension in adulthood goes back to childhood. In70-80% of cases hypertension is due to renal diseases. In children, hypertensiveencephalopathy (HE) may be the first manifestation of renal diseases. Seizure isone of the most common manifestations of HE.In this article, definitions, etiology, pathophysiology and finally the acute andchronic managements of HE will be discussed.

References

1. Sawicka K, Szczyrek M, Jastrzębska I, Prasal M, ZwolakA, Jadwiga D. Hypertension – The silent killer. J Pre-Clin Clin Res 2011;5(2):43-6.
2. Croix B, Feig DI. Childhood hypertension is not a silent disease. Pediatr Nephrol 2006 Apr;21(4):527-32.
3. Wong TY, Mitchell P. Hypertensive retinopathy. N Engl J Med 2004 Nov;351(22):2310-7.
4. Krzesinski JM, Cohen EP.Hypertension and the kidney.Acta Clin Belg 2007 Jan-Feb;62(1):5-14.
5. Report of the Second Task Force on Blood Pressure Control in Children – 1987. Task Force on Blood Pressure Control in Children. National Heart, Lung, and Blood Institute, Bethesda, Maryland. Pediatrics 1987Jan;79(1):1-25.
6. Update on the 1987 Task Force Report on High Blood Pressure in Children and Adolescents: a working group report from the National High Blood Pressure Education Program. National High Blood Pressure Education Program Working Group on Hypertension Control in Children and Adolescents. Pediatrics 1996 Oct;98(4 Pt1):649-58.
7. Ataei N, Aghamohammadi A, Yousefi E, Hosseini M, Nourijelyani K, Tayebi M, et al. Blood pressure nomograms for school children in Iran. Pediatr Nephrol 2004 Feb;19(2):164-8.
8. Lande MB. Systemic hypertension. In: Kliegman RM,Stanton BF, Schor NF. St. Geme III JW, Behrman RE. Nelson textbook of pediatrics. 19th ed. Philadelphia: WB Saunders Elsevier; 2011.P.1639-47.
9. Awazu M. Epidemiology of hypertension. In: AvnerED, Harmon WE, Niaudet P, Yoshikawa N. Pediatric Nephrology 6th ed. Berlin Heidelberg: Springer Verlag;2009. P.1460-84.
10. Yamaguchi I, Flynn JT. Pathophysiology of Hypertension.In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N.Pediatric Nephrology 6th ed. Berlin Heidelberg: Springer Verlag; 2009. p.1485-1518.
11. Brewer ED. Evaluation of Hypertension in Childhood Diseases. In: Avner ED, Harmon WE, Niaudet P,Yoshikawa N. Pediatric Nephrology 6th ed. Berlin Heidelberg: Springer Verlag; 2009. p.1519-40.
12. Ellis D. Management of the Hypertensive Child. In: AvnerED, Harmon WE, Niaudet P, Yoshikawa N. Pediatric Nephrology 6 th ed. Berlin Heidelberg: Springer Verlag;2009. p. 1457-541.
13. 13. National High Blood Pressure Education Program Working Group on High Blood Pressure in Children and Adolescents. The fourth report on the diagnosis,evaluation, and treatment of high blood pressure in children and adolescents. Pediatrics 2004 Aug;11492 Suppl 4th Report:555-76.
14. Sharifian M, Noorisafa M, Kiahosseini M. Hypertensive encephalopathy due to mercury poisoning (with three cases of mercury poisoning in one Iranian family). Iran J Child Neurol 2007 Aug;1(4):53-9.
15. 15. Mc Coy HO. Posterior reversible encephalopathy syndrome: An emerging clinical entity in adult, pediatric, and obstetric critical care. Journal of the American Academy of Nurse Practitioners 2008 Feb;20(2):100-6.
16. Ruilope L, Rynkiewicz A, Schmieder RE, Struijker Boudier HAJ, Zanchetti A. 2007 Guidelines for the management of arterial of hypertension. The Task Forcefor the Management of Arterial Hypertension of the European Society of Hypertension (ESH) and of theEuropean Society of Cardiology (ESC). Eur Heart J 2007;28:1462-536.
17. 17. McNiece KL, Portman RJ. Hypertension epidemiologyand evaluation. In: Kher KK, Schnaper HW, Makker SP.Clinical pediatric nephrology. UK: Informa Healthcare;2007. P. 461-80.
18. 18. Roth C, Ferbert A. Posterior reversible encephalopathysyndrome: long-term follow-up. J Neurol Neurosurg Psychiatry 2010 Jul;81(7):773-7.
19. Rust RS, Swaimar K, F Ashwal S, Ferriero DM,Schor NF. Interrelationship between renal and neurologicdiseases and therapies. In: Swaiman’s pediatric neurology,principles and practice. 5th ed. UK/USA: Elsevier,Saunders; 2012. p. 1782-820.
20. Flynn JT, Tullus K. Severe hypertension in children and adolescents: pathophysiology and treatment. Pediatr Nephrol 2008;24:829-33.
21. Hamilton BE, Nesbit GM. Delayed CSF enhancementin posterior reversible encephalopathy syndrome. AJNR Am J Neuroradiol 2008 Mar;29(3):456-7.

How to Cite this Article: Fayyazi A, Karimzadeh P, Torabian S, Damadi S, Khaje A. Comparison of Intravenous Midazolam Drip with Intermittent Intravenous Diazepam in The Treatment of Refractory Serial Seizures in Children. Iran J Child Neurol 2012; 6(3): 15-19.

Objective

Hyperglycemia may occur in the patients affected by any kind of critical illness.This complication makes an adverse effect on the clinical outcome of thesepatients by causing polyneuropathy and myopathy. It has been recently shownthat treatment of hyperglycemia with insulin administration significantly reducesthe prevalence of critical illness polyneuropathy and myopathy (CIPNM) andon the other hand reduces the demand for long-term mechanical ventilation inthe patients admitted to the ICU for more than 1 week. The aim of this studywas to determine the therapeutic effect of insulin in reducing the incidence ofCIPNM in the pediatric intensive care unit (PICU).

Materials & Methods

In this study, we recruited 30 patients admitted to the PICU of Tabriz PediatricHospital. The incidence of CIPNM following hyperglycemia was evaluated inthese patients. The patients were categorized into two groups. In the case group,blood sugar was controlled in the range of 140-180mg/dl by administration of0.05 unit per kilogram body weight of insulin as drip protocol in an hour and inthe control group, placebo was used. Consequently, the incidence of CIPNM,duration of PICU and duration of mechanical ventilation were comparedbetween the two groups.

Results

The incidence of CIPNM and duration of PICU stay and mechanical ventilationwere significantly reduced in the patients treated with insulin compared to thecontrol group.

Conclusion

This study shows that blood sugar control decreases the incidence of CIPNM.

References

1. Van den Berghe G. Insulin therapy in critical illness. Can J Diabetes. 2004;28(1):43-9.
2. Bolton CF, Gilbert JJ, Hahn AF, Sibbald WJ.Polyneuropathy in critically ill patients. J Neurol Neurosurg Psychiatry. 1984 Nov;47(11):1223-31.
3. Vondracek P, Bednarik J. Critical and electrophysiological findings and long-term outcomes in pediatric patients with critical illness polyneuropathy. Eur J Pediatr Neurol 2006 Jul;10(4):176-81.
4. Witt NJ, Zochodne DW, Bolton CF, Grand’Maison F, Wells G, Young GB et al. Peripheral nerve functionin sepsis and multiple organ failure. Chest 1991 Jan;99(1):176-84.
5. 5. Marino PL. The ICU book. 2nd ed. Philadelphia:Lippincott Williams and Wilkins; 1998. p. 800-1.
6. Hermans G, De Jonghe B, Bruyninckx F, Van den BergheG. Clinical review: Critical illness polyneuropathy and myopathy. Crit Care 2008;12(6): 238.
7. Wiener RS, Wiener DC, Larson RJ. Benefits and risks of tight glucose control in critically ill adults: a meta analysis.JAMA 2008 Aug;300(8):933-44.
8. 8. Griesdale DE, de Souza RJ, van Dam RM, Heyland DK,Cook DJ, Malhotra A et al. Intensive insulin therapy and mortality among critically ill patients: a meta-analysis including NICE-SUGAR study data. CMAJ 2009 Apr;180(8):821-7.
9. Mraovic B. Continuous glucose monitoring during intensive insulin therapy. J iabetes Sci Technol 2009 Jul;3(4):960-3.
10. De Jonghe B, Bastuji-Garin S, Sharshar T, Outina,H, Brochard L. Does ICU-acquired paresis lengthen weaning from mechanical ventilation? Intensive Care Med 2004 Jun;30(6):1117-21.
11. Garnacho-Mantero J, Amaya-Villar R, García-Garmendía JL, Madrazo-Osuna J, Ortiz-Leyba C. Effects of criticallillness polyneuropathy on the withdrawal from mechanical ventilation and the length of stay in septic patients. CritCare Med 2005 Feb;33(2):349-54.

How to Cite this Article: Fayyazi A, Karimzadeh P, Torabian S, Damadi S, Khaje A. Comparison of Intravenous Midazolam Drip with Intermittent Intravenous Diazepam in The Treatment of Refractory Serial Seizures in Children. Iran J Child Neurol 2012; 6(3): 15-19.

Objective

Serial seizures occur commonly in inpatient epileptic children. This type ofseizure due to its characteristics has a significant impact on the patient’s health.Untreated serial seizures lead to status epilepticus; therefore, finding a moreeffective treatment for such patients is essential. This study was performed tocompare the outcome of intermittent intravenous diazepam in the pediatricneurology clinic and intravenous midazolam in the pediatric intensive care unit(PICU), in order to introduce an alternative treatment for serail seizures.

Materials & Methods

In this study, 38 inpatient children aged 6 mo-15 years with refractory serialseizures were treated by first line antiepileptic drugs and then randomlytreated with either intermittent intravenous diazepam in the neurology ward orintravenous midazolam in PICU.

Results

Fourteen (70%) diazepam group patients and 13 (72.2%) midazolam grouppatients had good response to treatment, there was no significant differencebetween the two groups. Four midazolam group patients and two diazepamgroup patients needed mechanical ventilation and were intubated duringtreatment, with no significant difference between the two groups. Durationsof mechanical ventilation and PICU and hospital stay were not significantlydifferent between the two groups.

Conclusion

Intermittent intravenous diazepam is an effective alternative therapy formidazolam drip in the treatment of serial seizures due to similar therapeuticeffects and fewer side effects.

References

1. Haut SR. Seizure clustering. Epilepsy Behav 2006Feb;8(1):50-5.
2. Caraballo RH, Cersosimo RO, Fejerman N. Benign focal seizures of adolescence: a prospective study. Epilepsia 2004 Dec;45(12):1600-3.
3. Haut SR, Swick C, Freeman K, Spencer S. Seizureclustering during epilepsy monitoring. Epilepsia 2002 Jul;43(7):711-5.
4. Yen DJ, Chen C, Shih YH, Guo YC, Liu LT, Yu HY,et al. Antiepileptic drug withdrawal in patients with temporal lobe epilepsy undergoing presurgical video-EEG monitoring. Epilepsia 2001 Feb;42(2):251-5.
5. Rose AB, McCabe PH, Gilliam FG, Smith BJ, Boggs JG,Ficker DM et al. Occurrence of seizure clusters and status epilepticus during inpatient video-EEG monitoring.Neurology 2003 Mar;60(6):975-8.
6. Newmark ME, Dubinsky S. The significance of seizure clustering: a review of 343 outpatients in an epilepsy clinic. In:Dreifuss FE, editor. Chronopharmacology intherapy of the epilepsies. New York: Raven Press; 1990.p. 89-103.
7. Newmark ME, Penry JK. Catamenial epilepsy. In: Dam,Gram L, Penry JK. editors. Advances in epileptology:XII Epilepsy International Symposium.1980. p. 433-9.
8. 8. Bauer J, Burr W. Course of chronic focal epilepsy resistantto anticonvulsant treatment. Seizure 2001 Jun;10(4):239-46.
9. 9. Balish M, Albert PS, Theodore WH. Seizure frequencyin intractable partial epilepsy:a statistical analysis.Epilepsia 1991 Sep-Oct;32(5):642-9.
10. Lombroso CT. Intermittent home treatment of status andclusters of seizures. Epilepsia 1989;30 (Suppl 2):S11-4.
11. Mitchell WG. Status epilepticus and acute repetitiveseizures in children, adolescents and young adults:etiology, outcome and treatment. Epilepsia. 1996; 37(Suppl 1):S74-80.
12. Haut SR, Shinnar S, Moshe SL, O’Dell C, Legatt AD.The association between seizure clustering and status epilepticus in patients with intractable complex partial seizures. Epilepsia. 1999 Dec;40(12):1832-4.
13. Dreifuss FE, Rosman NP, Cloyd JC, Pellock JM,Kuzniecky RI, Lo WD et al. A comparison of rectaldiazepam gel and placebo for acute repetitive seizures.New Engl J Med. 1998 Jun;338(26):1869-75.
14. Kriel RL, Cloyd JC, Hadsall RS, Carlson AM, Floren KL,Jones-Saete CM. Home use of rectal diazepam for clusterand prolonged seizures: efficacy, adverse reactions,quality of life, and cost analysis. Pediatr Neurol. 1991Jan-Feb;7(1):13-7.
15. Ozdemir D, Gulezb P, Uranb N, Yendur G, Kavakli T,Aydin A. Efficacy of continuous midazolam infusion andmortality in childhood refractory generalized convulsive status epilepticus. Seizure. 2005 Mar;14(2) 129-32.
16. 16. Bhattacharyya M, Kalra V, Gulati S. Intranasal midazolam vs rectal diazepam in acute childhood seizures. PediatrNeurol. 2006 May;34(5):355-9.
17. Lahat E, Goldman M, Barr J, Bistritzer T, BerkovitchM. Comparison of intranasal midazolam with intravenous diazepam for treating febrile seizures in children:prospective randomised study. BMJ. 2000Jul;321(7253):83-6.
18. Hayashi K, Osawa M, Aihara M, Haginoya K, KatoI, Kaneko K et al; Research Committee on Clinical Evidence of Medical Treatment for Status Epilepticusin Childhood. Efficacy of intravenous midazolam forstatus epilepticus in childhood. Pediatr Neurol. 2007Jun;36(6):366-72.
19. Scott RC, Besag FM, Neville BG. Buccal midazolam and rectal diazepam for treatment of prolonged seizures in childhood and adolescence: a randomised trial. Lancet.1999 Feb;353(9153):623-26.

How to Cite this Article: Nejad Biglari H, Rezayi A, Nejad Biglari H, Alizadeh M, Ahmadabadi F. Relationship Between Migraine and Abnormal EEG Findings in Children. Iran J Child Neurol 2012; 6(3): 21-24.

Objective

Migraine is a disabling illness that causes absence from school andaffects the quality of life. It has been stated that headache may representan epileptic event. EEG abnormality is a prominent finding in children with migraine. The aim of this study was to evaluate EEG abnormalities in children with migraine.

Materials & Methods

Two-hundred twenty-eight children were enrolled into the study. Evaluation and following of cases was performed by one physician, paraclinical tests were used to increase the accuracy. The study wasconducted under the supervision of pediatric neurology masters and theselected cases were from different parts of the country.

Results

Comparing EEG abnormalities in different types of migraine revealed that there is an association between them. There was also a significant difference between EEG abnormalities in different types of aura. Migraine type was associated with the patient’s age. Sleep disorders were more common in patients with a positive family history of seizure.

Conclusion

Our study disclosed migraine as a common problem in children with abnormalities present in approximately 20% of the patients. Migraine and abnormal EEG findings are significantly associated.

References

1. Ottman, R, Lipton RB, Comorbidity of migraine and epilepsy. Neurology 1994 Nov;44(11):2105-10.
2. Haut SR, Bigal ME, Lipton RB. Chronic disorders with episodic manifestations: focus on epilepsy and migraine.Lancet Neurol 2006 Feb;5(2):148-57.
3. Piccinelli P, Borgatti R, Nicoli F, Calcagno P, Bassi MT,Quadrelli M et al. Relationship between migraine and epilepsy in pediatric age. Headache 2006 Mar;46(3):413-21.
4. Hauser WA, Annegers JF, Anderson VE. Epidemiology and the genetics of epilepsy. Res Publ Assoc Res Nerv Ment Dis 1983;61:267-94.
5. Yankovsky AE, Andermann F, Bernasconi A.Characteristics of headache associated with intractable partial epilepsy. Epilepsia 2005 Aug;46(8):1241-5.
6. The International Classification of Headache Disorders:2nd edition. Cephalalgia 2004; 24 Suppl 1:9-160.
7. Forderreuther S, Henkel A, Noachtar S, Straube A. Headache associated with epileptic seizures:epidemiology and clinical characteristics. Headache 2002 Jul-Aug;42(7):649-55.
8. Lewis DW, Diamond S, Scott D, Jones V. Prophylactic treatment of pediatric migraine. Headache 2004 Mar;44(3):230-7.
9. Holguin J, Fenichel G. Migraine. J Pediatrics 1967 Feb;70(2):290-7.
10. Chu ML, Shinnar S. Headaches in children younger than7 years of age. Arch Neurol 1992 Jan;49(1):79-82.
11. Friedman E, Pampiglione G. Recurrent headache inchildren (a clinical and electroencephalographic study).Arch Neurobiol 1974;37 SUPPL:115-76.
12. Kramer U, Nevo Y, Neufeld MY, Harel S. The valueof EEG in children with chronic headaches. Brain Dev1994 Jul-Aug;16(4):304-8.
13. Schon F, Blau JN. Post-epileptic headache and migraine.J Neurol Neurosurg Psychiatry 1987 Sep;50(9):1148-52.

How to Cite this Article: Tonekaboni SH, Tousi P, Ebrahimi A, Ahmadabadi F, keyhanidoust Z, Zamani Gh, Rezvani M, Amirsalari S, Tavassoli A, Rounagh A, Rezayi A. Clinical and Para clinical Manifestations of Tuberous Sclerosis: A Cross Sectional Study on 81 Pediatric Patients. Iran J Child Neurol 2012; 6(3): 25-31.

Objective

Migraine is a disabling illness that causes absence from school andaffects the quality of life. It has been stated that headache may representan epileptic event. EEG abnormality is a prominent finding in childrenwith migraine. The aim of this study was to evaluate EEG abnormalitiesin children with migraine.

Materials & Methods

Two-hundred twenty-eight children were enrolled into the study.Evaluation and following of cases was performed by one physician,paraclinical tests were used to increase the accuracy. The study wasconducted under the supervision of pediatric neurology masters and theselected cases were from different parts of the country.

Results

Comparing EEG abnormalities in different types of migraine revealedthat there is an association between them. There was also a significantdifference between EEG abnormalities in different types of aura. Migrainetype was associated with the patient’s age. Sleep disorders were morecommon in patients with a positive family history of seizure.

Conclusion

Our study dosclosed migraine as a common problem in children withabnormalities present in approximately 20% of the patients. Migraineand abnormal EEG findings are significantly associated.

Refrences

1. Bundey S, Evans K. Tuberous sclerosis: a genetic study. J Neurol Neurosurg. Psychiatry 1969 Dec;32(6):591-603.
2. Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms,and commonly missed signs. Pediatrics 2011 Jan;127(1):e117-25.
3. Thiele EA, Korf BR. Phakomatoses and allied conditions.In: Swaiman KF, Ashwal S, Ferriero DM. Swaimans pediatric neurology. 5th ed. China: Elsevier Saunders;2012. p. 504-9.
4. Lendvay TS, Marshall FF. The tuberous sclerosis complex and its highly variable manifestations. J Urol2003 May;169(5):1635-42.
5. Curatolo P, Jóźwiak S, Nabbout R; on behalf of the participants of the TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC):Clinical recommendations. Eur J Paediatr Neurol 2012Jun;16(1):83-5.
6. Jansen FE, Van Huffelen AC, Van Rijen PC, LeijtenFS,Jennekens-Schinkel A, Gosselaar P et al. Epilepsy surgeryin tuberous sclerosis: the Dutch experience. Seizure 2007Jul;16(5):445-53.
7. Turgut M, Akalan N, Ozgen T, Ruacan S, Erbengi A. Subepandymal giant cell astrocytoma associated with tuberous sclerosis: diagnostic and surgical characteristics of five cases with unusual features. Clin Neurol Neurosurg1996 Aug;98(3):217-21.
8. Coppola G, Klepper J, Ammendola E, Fiorillo M, dellaCorte, Capano G. The effects of the ketogenic diet in refractory partial seizures with reference to tuberous sclerosis. Eur J Pediatr Neurol 2006 May;10(3):148-51.
9. Jozwia S, Kotulska K, Domanska-Pakiela D, LojszczykB, Syczewska M et al. Antiepileptic treatment before the onset of seizure reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex. Eur J Paediatr Neurol 2011 Sep;15(5):424-31.
10. Konishi Y, Ito M, Okuno T, Hojo H, Okuda R, Nakano Yet al. Tuberous sclerosis: early neurologic manifestations and CT features in 18 patients. Brain Dev 1979;1(1):31-7.
11. Gerard G, Weisberg L. Tuberous sclerosis: CT findings and differential diagnosis. Comput Radiol 1987 Jul-Aug;11(4):189-92.
12. Pompili G, Zirpoli S, Sala C, Flor N, Alfano RM, Volpi A et al. Magnetic resonance imaging of renal involvementin genetically studied patients with tuberous sclerosis complex. Eur J Radiol 2009 Nov;72(2):335-41.
13. Fleury P, de Groot Wp, Delleman JW, Verbeeten B Jr,Frankenmolen-Witkiezwicz IM. Tuberous sclerosis: theincidence of sporadic cases versus familial cases. BrainDev 1980;2(2):107-17.
14. Saadat M, Ansari-Lari M, Farhud DD. Consanguineous marriage in Iran. Ann Hum Biol 2004 Mar-Apr;31(2):263-9.
15. Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol 2004 Sep;19(9):643-9.

How to Cite this Article: Fallah R, Nafisi Moghadam R, Fallah Tafti M, Salmani Nodoushan M. Results of Noncontrast Brain Computed Tomography Scans of 1-18 Year Old Epileptic Children. Iran J Child Neurol 2012; 6(3): 33-38.

Objective

The advent of computed tomography (CT) scan revolutionized the diagnosticevaluation of neurologic patients. The aim of this study was to evaluate brain CTresults of epileptic children.

Materials & Methods

In a descriptive cross-sectional study, noncontrast brain CT scan of 150 consecutive1-18 year old epileptic children whom were referred to pediatric neurology clinic ofShahid Sadoughi University of Medical Sciences, from May 2008 to October 2010 inYazd-Iran, evaluated.

Results

Sixty two girls and 88 boys with mean age of 6.6 ± 4.3 years were evaluated.In 38 (25.3 %) children, seizure onset age was under one year and 38 others hadabnormal mental / developmental status. Fifty three children (35.3 %) and 97 (64.7%)had partial and generalized seizures, respectively. Partial seizures were more prevalentin children with seizure onset in < 1 year [41.5% (22/53) vs. 16.5% (16/97)] Result of CT was normal in 74 % (n=111). Among the patients with abnormalresults, 18(46%) had brain atrophy, 10 (25.6%) structural CNS dysgenesia, six (15.4%)intracranial calcification, three (7.8%) hydrocephaly and two had (5.2%) brain tumor.Abnormal brain CT was more prevalent in patients with seizure onset in less than oneyear of age [60.5% (23 of 38) vs. 14.3% (16 of 112), p = 0.003], partial epilepsy [51% (27of 53) vs. 12% (12/97)], and abnormal developmental status [ 81.5% (31 of 38) vs.7% (8of 112]. Mean age of seizure onset in epileptic children with abnormal brain CT scanwas less (M ± SD:1/17 ± 0.6 years versus 4.02±1.9 years).

Conclusion

Brain CT scan might be considered in evaluation of epileptic children with partialseizures, seizure onset in less than one year of age or neurodevelopmental delay.

References

1. Jagoda A, Gupta K. The emergency department evaluationof the adult patient who presents with a first-time seizure.Emerg Med Clin North Am 2011; 29(1):41-9.
2. Camfield PR, Camfield CS. Pediatric epilepsy. In:Swaiman KF, Ashwal S, Ferriero D M. Pediatric Neurology: principles & practice. (4th ed). Philadelphia:Mosby Elsevier, 2006.P. 983.
3. Gaillard WD, Chiron C, Cross JH, Harvey AS, Kuzniecky R, Hertz-Pannier L, Vezina LG; ILAE, Committee for Neuroimaging, Subcommittee for Pediatric. Guidelines for imaging infants and children with recent-onset epilepsy. Epilepsia 2009; 50(9):2147-53.
4. Soto-Ares G, Jissendi Tchofo P, Szurhaj W, Trehan G,Leclerc X. Management of patients after a first seizure. J Neuroradiol 2004; 31(4):281-8. (in French)
5. Hirtz D, Ashwal S, Berg A, et al. Practice parameter:evaluating a first nonfebrile seizure in children: report of the quality standards subcommittee of the American Academy of Neurology, the Child Neurology Society, and the American Epilepsy Society. Neurology 2000; 55:616– 623.
6. Kuzniecky RI. Neuroimaging in pediatric epilepsy.Epilepsia 1996; 37, Suppl 1:S10-21.
7. Adamsbaum C, Rolland Y, Husson B. Pediatric neuroimaging emergencies. J Neuroradiol 2004;31(4):272-80. (in French)
8. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1989; 30:389–399.
9. Hsieh DT, Chang T, Tsuchida TN, et al. New-onset afebrile seizures in infants: role of neuroimaging.Neurology 2010;12:74(2):150-6.
10. Khodapanahandeh F, Hadizadeh H. Neuroimaging inchildren with first afebrile seizures: to order or not toorder? Arch Iran Med 2006;9(2):156-8.
11. Berg AT, Testa FM, Levy SR, Shinnar S. Neuroimaging in children with newly diagnosed epilepsy: A community based study. Pediatrics 2000; 106(3):527-32.
12. Maytal J, Krauss JM, Novak G, Nagelberg J, Patel M. Therole of brain computed tomography in evaluating children with new onset of seizures in the emergency department.Epilepsia 2000; 41(8):950-4.
13. Kumar R, Navjivan S, Kohli N, Sharma B. Clinicalcorrelates of CT abnormality in generalized childhood epilepsy in India. J Trop Pediatr 1997;43(4):199-203.
14. Aguilar-Rebolledo F, Sosa-Villalobos R, del Castillo- Troncoso C. Should computed axial tomography of theskull be done in all pediatric patients with epilepsy?. BolMed Hosp Infant Mex 1992;49(12):845-50. (in Spanish)
15. Obajimi MO, Fatunde OJ, Ogunseyinde AO, OmigbodunOO, Atalabi OM, Joel RU. Computed tomography and childhood seizure disorder in Ibadan. West 2004;23(2):167-72.
16. Wammanda RD, Anyiam JO, Hamidu AU, Chom ND,Eseigbe EE. Computerized tomography of children with seizure disorders. Niger J Clin Pract 2009;12(1):25-8.
17. Korff C, Nordli DR Jr. Do generalized tonic-clonic seizures in infancy exist? Neurology 2005, 65:17501753.
18. Vanderver A, Chang T, Kennedy C, et al. MR Imaging forthe diagnosis of cerebral dysplasia in new onset seizuresin children. Ann Neurol 2003,54:S114.

How to Cite this Article: Barzegar M, Sayadnasiri M, Tabrizi A. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia. Iran J Child Neurol 2012; 6(3): 39-43.

Oculodentodigitalis dysplasia (ODDD) is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. In addition,some patients develop neurological problems mostly a spastic paraparesisassociated with white matter abnormalities on magnetic resonance imaging.This report describes a patient with epilepsy, a rare neurologic manifestationof this syndrome.

References

1. Judisch GF, Martin-Casals A, Hanson JW, Olin WH.Oculodentodigital dysplasia. Four new reports and aliterature review. Arch Ophthalmol 1979 May;97(5):878-84.
2. Paznekas WA, Boyadjiev SA, Shapiro RE, DanielsO, Wollnik B, Keegan CE, et al. Connexin 43(GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003 Feb;72(2):408-18.
3. Parashari UC, Khanduri S, Bhadury S, Qayyum FA.Radiographic diagnosis of a rare case of oculodentodigital dysplasia. SA J Radiology 2011:134-6.
4. van Es RJ, Wittebol-Post D, Beemer FA. Oculodentodigital dysplasia with mandibular retrognathism and absenceof syndactyly:a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg 2007 Sep;36(9):858-60.
5. Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M,Oskouei SG. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and asibling. J Clin Pediatr Dent 2009 Summer;33(4):337-41.
6. Loddenkemper T, Grote K, Evers S, Oelerich M, StogbauerF. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002 May;249(5):584-95.
7. Opjordsmoen S, Nyberg-Hansen R. Hereditary spasticparaplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980 Jan;61(1):35-41.
8. Farmer TW, Wingfield MS, Lynch SA, Vogel FS, HuletteC, Katchinoff B, et al. Ataxia, chorea, seizures, and dementia. Pathologic features of a newly defined familial disorder. Arch Neurol 1989 Jul;46(7):774-79.
9. Gorlin RJ, Meskin LH, St Geme JW. Oculodentodigital dysplasia. J Pediatr 1963 Jul;63:69-75.
10. Orphanet report Series.Prevalence of rare disease:Bibliographic data-November 2011-Number 1.http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalenceof rare disease by alphabetical list.pdf. 1st November2011.
11. Jones C, Baldrighi C, Mills J, Bush P, Ezaki M, OishiS. Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders. J Hand Surg Am. 2011 Nov;36(11):1816-21.
12. Gutmann DH, Zackai EH, Mc Donald-McGinn DM,Fischbeck KH, Kamholz J. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.Am J Med Genet 1991 Oct;41(1):18-20.
13. Schrander-Stumpel CT, Franke CL. Central nervous system abnormalities in oculodentodigital dysplasia.Genet Couns 1996;7(3):233-5.
14. 14. Ginsberg LE, Jewett T, Grub R, Mclean WT.Oculodental digital dysplasia: neuroimaging in a kindred. Neuroradiology 1996 Jan;38(1):84-6.
15. 15. Amador C, Mathews AM, Del Carmen, Montoya M,Laughridge ME, Everman DB, Holden KR .Expanding the neurologic phenotype of oculodentodigital dysplasiain a 4-generation Hispanic family. J Child Neurol 2008 Aug;23(8):901-5.

How to Cite this Article: Karimi M, Fallah R. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA). Iran J Child Neurol 2012; 6(3): 45-48.

Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensoryautonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomalrecessive disorder initially described by Swanson in 1963.We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran.The symptoms included recurrent episodes of hyperthermia and unexplainedfever that began in early infancy, anhidrosis (inability to sweat), profound lossof pain sensitivity, neurodevelopmental delay, unconscious self-mutilation offingers, lips and tongue, corneal lacerations, palmar hyperkeratosis, non-painfulfracture and joint deformities in the right ankle. Tearing, deep tendon reflexesand motor and sensory nerve action potentials were normal.Prenatal screening is the sole accessible option to prevent the birth of anaffected child as no cure is available. Early recognition of CIPA patients and itsorthopedic complications, prevention of accidental injuries, regular visual andeye follow-up and specific dental management could be useful in the reductionof frequency and severity of complications.

References

1. Nagasako EM, Oaklander AL, Dworkin RH.Congenital insensitivity to pain: an update. Pain 2003 Feb;101(3):213-9.
2. Swanson AG. Congenital insensitivity to pain with anhidrosis. A unique syndrome in two male siblings.Arch Neurol 1963 Mar;8:299-306.
3. Dave N, Sonawane A, Chanolkar S. Hereditary sensoryautonomic neuropathy and anaesthesia - a case report.Indian J Anaesth 2007;51(6):528-30.
4. Sasnur AH, Sasnur PA, Ghaus-Ul RS.Congenital insensitivity to pain and anhidrosis. Indian J Orthop 2011May-Jun;45(3):269-71.
5. Lin YP, Su YN, Weng WC, Lee WT. Novel neurotrophictyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis. J Child Neurol 2010 Dec;25(12):1548-51.
6. Eslamian F, Soleymanpour J. Case report: two casereports of hereditary sensory autonomic neuropathy typeII in a family. Med J Tabriz Uni Med Sci 2009;31(1):91-4.
7. Gharagozlou M, Zandieh F, Tabatabaei P, Zamani GH.Congenital sensory neuropathy as a differential diagnosis for phagocytic immunodeficiency. Iran J Allergy Asthma Immunol 2006 Mar;5(1):35- 7.
8. Menkes JH. Heredo degenerative Diseases. In: Menkes JH, Sarnat HB, Maria BL. Child neurology. 7th ed.Philadelphia: Lippincott; 2006. p. 194-8.
9. Schwarzkopf R, Pinsk V, Weisel Y, Atar D, Gorzak Y.Clinical and genetic aspects of congenital insensitivity topain with anhidrosis. Harefuah 2005 Jun;144(6):433-7,453, 452. [Article in Hebrew]
10. Machtei A, Levy J, Friger M, Bodner L. Osteomyelitisof the mandible in a group of 33 pediatric patients with congenital insensitivity to pain with anhidrosis. Int J Pediatr Otorhinolaryngol 2011 Apr;75(4):523-6.
11. Jarade EF, El-Sheikh HF, Tabbara KF. Indolent cornealulcers in a patient with congenital insensitivity to pain with anhidrosis: a case report and literature review. Eur J Ophthalmol 2002 Jan-Feb;12(1):60-5.
12. John D, Thomas M, Jacob P Neurotrophic keratitisand congenital insensitivity to pain with anhidrosis-a case report with 10-year follow-up. Cornea 2011 Jan;30(1):100-2.
13. Bonkowsky JL, Johnson J, Carey JC, Smith AG,Swoboda KJ. An infant with primary tooth loss andpalmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics 2003 Sep;112(3 Pt 1):e237-41.
14. Neves BG, Roza RT, Castro GF. Traumatic lesions from congenital insensitivity to pain with anhidrosis in a pediatric patient: dental management. Dent Traumatol 2009 Oct;25(5):545-9.