Levetiracetam (levebel) Versus Carbamazepine Monotherapy for Focal Epilepsy in Children

Focal epilepsy is one of the most prevalent type of seizures in childhood. In this study we will compare the effect of new approved drug leveitiracetam versus carbamazepine in the treatment of focal epilepsy.Methods and Materials: we studied  newly diagnosed  children with focal epilepsy (in the age range of 1-16). The children were treated randomly with two drug levetiracetam and carbamazepine. Patients have been followed for seizure and drugs side effects at intervals of 1 month and six months. We checked liver function tests and complete blood count for all patients and they asked about any significant side effects such as drowsiness، restlessness and skin reaction. Eventually, they were classified in two groups of 25 consuming levetiracetam and 25 consuming carbamazepine.Results:In our study, two cases were excluded in levetiracetam group because of sever agitation and 3 patients (13%) had relapsing seizures. In the group of carbamazepine,10 patients(40%) had relapse. Seizure was not repeated in 15 (60%) and 20 (87%) cases in  carbamazepin and levetiracetam  groups, respectivelly. chi square examination  showed that the responses to treatment had significant differences (P=0.03). Agitation and drowsiness  were the most prevalent complication in levetiracetam and carbamazepine groups, respectivelly. Fortunately ،liver enzyme dysfunction and blood cell disturbance were observed in none of the groups. Conclusion: According to findings, there were significant differences in controlling  seizures  between two groups that implicate much more influence of levetiracetam (87%) in suppression of focal seizure

Epstein-Barr Virus Encephalitis: A Case Report

How to Cite This Article: Hashemian S, Ashrafzadeh F, Akhondian J, Beiraghi Toosi M. Epstein-Barr Virus Encephalitis: A Case Report. Iran J Child Neurol. 2015 Winter;9(1):107-110.  Abstract Many neurologic manifestations of Epstein-Barr virus (EBV) infection have been documented, including encephalitis, aseptic meningitis, transverse myelitis, and Guillain-Barre syndrome. These manifestations can occur alone or coincidentally with the clinical picture of infectious mononucleosis. EBV encephalitis is rare and is indicated as a wide range of clinical manifestations. We report a 10-year-old girl presented with fever, gait disturbance, and bizarre behavior for one week. The results of the physical examination were unremarkable. The diagnosis of EBV encephalitis was made by changes in titers of EBV specific antibodies and MRI findings. A cranial MRI demonstrated abnormal high signal intensities in the basal ganglia and the striatal body, especially in the putamen and caudate nucleus. EBV infection should be considered when lesions are localized to the basal ganglia.ReferencesFujimoto H, Asaoka K, Imiazumi T, Ayabe M, Shoji H, Kaji M. Epstein-Barr virus Infections of the Central Nervous System. Intern Med 2003; 42:33-40.Mathew AG, Parvez Y. Fulminant Epstein Barr virus encephalitis. Indian Pediatrics 2013; 50:418-419Kalita J, Maurya PK, Kumar B, Misra UK. Epstein Barr virus encephalitis: Clinical diversity and radiological similarity. Neurol India 2011; 59:605-7Baskin HJ, Hedlund G. Neuroimaging of Herpes Virus Infections in Children. Pediatr Radiol 2007; 37:949-63.Weinberg A, Li SH, Palmer M, Tyler K .Quantitative CSF PCR in Epstein-Barr Virus Infections of the Central Nervous System. Ann Neurol 2002; 52:543-8.Ono J, Shimizu K, Harada k, Mano T, Okada S. Characteristic MR Features of Encephalitis Caused by Epstein-Barr virus. Pediatr Radiol 1998; 28:569-70.Hausler M, Raamaekers T, Doenges M, Shweizer K ,Ritter K. Neurological Complications of Acute and Persistent Epstein-Barr Virus Infection in Pediatric Patients. Journal of Medical Virology 2002; 68:253-63.Young JY, Hyang LK. Transient Asymptomatic White Matter Lesions Following Epstein-Barr virus Encephalitis. Korean pediatric society 2011; 54:389- 93.Doja A, Bitnun A, Jones EL, Richardson S, Tellier R, Petric M, et al. Pediatric Epstein-Barr Virus-Associated Encephalitis:10-Year Review. Child Neurol 2006; 21:385-91.Kou K, Itoh M, Kawano Y. A Case Report of EB Virus- Induced Meningoencephalitis Associated with Brain MRI Abnormalities (basal ganglia). J Japan Peditr Sos 1994; 98:2052-9.Kunlong H, Hung-Tsai L, Minlan T. Epstein-Barr Virus Encephalitis in Children. Acta Pediatrica Taiwanica 2000; 3:140-6

A Rare presentation of neurobrucellosis in a child with Recurrent transient ischemic attacks and pseudotumor cerebri (A case report and review of literature)

How to Cite This Article: Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, Hashemi N. A Rare Presentation of Neurobrucellosis in A Child with Recurrent Transient Ischemic Attacks and Pseudotumor Cerebri (A Case Report and Review of Literature). Iran J Child Neurol. 2014 Spring; 8(2):65-69. Brucellosis is a multi-system infectious disease that presents with various manifestations and complications. Neurobrucellosis is an uncommon but serious presentation of brucellosis that can be seen in all stages of the disease. Highindex of suspicion, especially in endemic areas is essential to prevent morbidity from this disease.The case was an 11- year -old female patient who was admitted with a severe headache that was worsening over a period of 2 months. The day after each attack, she experienced transient right hemiparesia that was lasting less than one hour (TIA) as well as blurred vision and bilateral papilledema. Laboratory findings revealed serum agglutination Wright test positive at 1/320 and 2ME test positive at 1/160. A lumbar puncture showed a clear CSF with increased opening pressure (32 cmH2O), CSF examination was within normal range (pseudotumor cerebri).To our knowledge, there has been no report for recurrent TIA in pediatric neurobrucellosis in the base of pseudotumor cerebri.In endemic areas like Iran, unexplained neurological signs or symptoms should be evaluated for brucellosis. References1. Pappas G, Akritidis N, Bosilkovski M, Tsianos E. Brucellosis. N Engl J Med 2005; 352 2325-2336.2. Young EJ, Mandel GL, Bennett JE, et al. Principles and practice of infectious diseases. Philadelphia: Churchill Livingstone; 2002; Pp:23 86-93.3. Gul HC, Erdem H, Bek S. Overview of neurobrucellosis: a pooled analysis of 187 cases. Int J Infect Dis. 2009;13(6):339-343.4. McLean DR, Russell N, Khan MY. Neurobrucellosis: Clinical and therapeutic features. Clin Infect Dis. 1992; 15:582-90.5. Young EJ, Douglas M. Brucella species. Bennett’s principles and practice of infectious diseases. 6th ed. Churchill Livingstone Co. 2005; 6: 2669-73.6. Fatima ZO, Samer Z, Ropert A. Neurobrucellosis in children. Developmental Medicine & Child Neurol.1997;39:762-765.7. Habib YKR, AL – Najdi AKN, Sadek SAH. Paediatric Neurobrucellosis: Case Report and Literature Review. J Infection 1998; 37:59-62.8. Bucher A, Gaustad P, Pape E. Chronic neurobrucellosis due to Brucella melitensis. Scand J Infect Dis 1990; 22:223-6.9. Al Deeb SM, Yaqub BA, Sharif HS, et al. Neurobrucellosis: clinical characteristics, diagnosis, and outcome. Neurology 1989; 39:498-501.10. Shakir RA, Al-Din ASN, Araj GF, et al. Clinical categories of neurobrucellosis; a report on 19 cases. Brain. 1987;110: 213-223.11.Haji-Abdolbagi M, Rasooli-Nejad M, Jafari S, et al. Clinical and laboratory findings in neurobrucellosis: Review of 31 Cases. Arch Iranian Med 2008; 11 (1): 21-25.12. Ranjbar M, Rezaiee AA, Hashemi SH, et al. Neurobrucellosis: report of a rare disease in 20 Iranian patients referred to a tertiary hospital. Eastern Mediterranean Health Journal. 2009; 15(1): 143-148.13. Sturniolo G, Mondello P, Bruno S, et al. Neurobrucellosis associated with syndrome of inappropriate antidiuretic hormone with resultant diabetes insipidus and hypothyroidism. Journal of clinical microbiology. 2010; 48(10): 3806-3809.14. Trifiletti RR, Restivo DA, Pavone P, et al. Diabetes insipidus in neurobrucellosis. Clin Neurol Neurosurg. 2000; 102: 163- 165.15. Zaidan R, Al Tahan AR. Cerebral venous thrombosis: a new manifestation of neurobrucellosis. Clin Infect Dis.1999; 28: 399 - 400.16. Namiduru M, Karaoglan I, Yilmaz M. Guillain-Barre syndrome associated with acute neurobrucellosis. Int J Clin Pract. 2003; 57: 919 - 920.17. Tuncer-Ertem G, Tülek N, Yetkin MA. Case report: subdural hemorrhage in neurobrucellosis. Mikrobiyol Bul. 2004; 38: 253 - 256.18. Tena D, Gonzáles-Praetorius A, López- Alonso A, Peña JL, Pérez-Pomata MT, Bisquert J. Acute meningitis due to Brucella spp. Eur J Pediatr 2006; 165:726-727.19. Salih M A, Abdel G M. Abdel G, et al. Infectious and in ammatory disorders of the circulatory system as risk factors for stroke in Saudi children. Saudi Med J. 2006;27: 41-52.20. Sayyahfar Sh, Karimi A, Fahimzad A , et al. Rare presentation of neurobrucellosis. Pak J Med Sci. 2008; 24(3): 464-467.21. Hernandez MA, Anciones B, Frank A, et al. Neurobrucellosis and cerebral vasculitis. Neurologia 1988; 3:241-243.22. Adaletli I, Albayram S, Gurses B, et al. Vasculopathic changes in the cerebral arterial system with neurobrucellosis. Am J Neuroradiol 2006; 27:384-386.23. Bingöl A, Togay-Isıkay C. Neurobrucellosis as an exceptional cause of transient ischemic attacks. Eur J Neurol 2006; 13:544-548.24.Elrazak MA. Brucella optic neuritis. Arch Intern Med 1991;151:776-8.25. Karakurum G B, Yerdelen D, Karatas M, et al. Abducens nerve palsy and optic neuritis as initial manifestation in brucellosis. Scand J Infect Dis 2006; 38:721-5.26. Karapinar B, Yilmaz D, Vardar F, et al. Unusual presentation of brucellosis in a child: Acute blindness. Acta Paediatrica. 2005;94:378-80.27. Marques R, Martins C, Machado I, et al. Unilateral optic neuritis as a presentation of neurobrucellosis. Pediatric Reports. 2011; 3(11): 36-38.28. Tali ET, Keskin T, Oznur II, et al. MRI of brucella polyneuritis in a child. Neuroradiology. 1996; 38(1): 190-2.29. Yilmaz M, Ozaras R, Mert A, et al. Abducent nerve palsy during treatment of brucellosis. Clin Neurol Neurosurg 2003; 105:218-20.30. Balcer LJ. Optic neuritis. N Engl J Med 2006; 354:1273-1280.31. Dirge KB. Idiopathic intracranial hypertension. BMJ 2010; 341:109-110.32. Emadoleslamia M, Mahmoudianb T. A case of pseudotumor cerebri and brucellosis. Pediatr Infec Dis J .2007;2: 251-253.33. Yasar anlar F, yalcin S, Secmeer G. Persistant hypoglycorrhachia in neurobrucellosis. pediatr infec j. 1994;13(8):747-8.34. Erdem H, Ulu-Kilic A, Kilic S, et al. Efficacy and tolerability of antibiotic combinations in neurobrucellosis: results of the Istanbul study. Antimicrob Agents Chemother. 2012; 56(3):1523-8. 

Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis

How to Cite This Article: Eslamiyeh H, Ashrafzadeh F, Akhondian J, Beiraghi Toosi M. Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis. Iran J Child Neurol. Spring 2015;9(2):53-57.AbstractObjectiveHomocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein thrombosis,   sagital sinus thrombosis, and myocardial infarction. Cerebral sinovenous thrombosis (CVST) is an unusual disorder in children and requires prompt and accurate management. Some causal factors for thedevelopment of CVST differ between children and adults. The majority of cases with CSVT are found to have an underlying cause for thrombosis like dehydration, infections, prothrombotic and hematologic disorders, malignancy and trauma.Although homocystinuria is usually associated with ischemic strokes, CVST as initial clinical presentation of homocystinuria is rare in children.In this article, we presented a 10-year old boy with seizure, hemiparesis, and ataxia due to CSVT caused by homocystinuria

Hypoparathyroidism as the first manifestation of Kearns-sayre syndrome. A case report

Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report How to Cite This Article: Ashrafzadeh F, Ghaemi N, Akhondian J, Beiraghi Toosi M, Elmi S. Hypoparathyroidism as the First Manifestation of Kearns-Sayre Syndrome: A Case Report. Iran J Child Neurol. 2013 Autumn;7(4):53-57.  ObjectiveKearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content above 100 mg/dL. The nature of this uncommon disease is yet to be clarified. In this paper, we report a case of Kearns-Sayre syndrome. According to the previous records, the first manifestation of Kearns-Sayre syndrome as hypoparathyroidism is uncommon and in this article, we report a case with this problem.ReferencesAshizawa T, Subramony SH. What is Kearns-Sayer syndrome after all? Arch Neurol 2001;58(7):1053-4.Barragan-Campos HM, Vallee JN, Lo D, Barrera-Ramirez CF, Argote-Greene M, Sanchez-Guerrero J, et al. Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. Arch Neurol 2005;62(5):737-42.Amemiya S, Hamamoto M, Goto Y, Komaki H, Nishino I, Nonaka I, et al. Psychosis and progressive dementia: presenting features of a mitochondriopathy. Neurology 2000;55(4):600-1.Katsanos KH, Pappas CJ, Patsouras D, Michalis LK, Kitsios G, Elisaf M, et al. Alarming atrioventricular block and mitral valve prolapse in the Kearns-Sayer syndrome. Int J Cardiol 2002;83(2):179-81.Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, et al. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 2009;15(2):200–5.Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004;364(9434):592–6.Bosbach S, Kornblum C, Schröder R, Wagner M. Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayer syndrome. Brain 2003;126(Pt 5):1231-40.Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, et al. Lumping or splitting? “Ophthalmoplegia-plus” or Kearns-Sayer syndrome? Ann Neurol 1977;1(1):37-54.Welzing L, von Kleist-Retzow JC, Kribs A, Eifinger F, Huenseler C, Sreeram N. Rapid development of life threatening complete atrioventricular block in Kearns-Sayer syndrome. Eur J Pediatr 2009;168(6):757-9.Berio A, Piazzi A. Kearns-Sayer syndrome with GH deficiency. Pediatr Med Chir 2000;22:43-6.Schmiedel J, Jackson S, Schäfer J, Reichmann H. Mitochondrial cytopathies. J Neurol 2003;250(3):267-77.Chu BC, Terae S, Takahashi C, Kikuchi Y, Miyasaka K, Abe S, et al. MRI of the brain in the Kearns-Sayer syndrome: report of four cases and a review. Neuroradiology 1999;41(10):759-64.Altunbaşak S, Bingöl G, Ozbarlas N, Akçören Z, Hergüner O. Kearns-Sayer syndrome. A case report. Turk J Pediatr 1998;40(2):255-9.Chawla S, Coku J, Forbes T, Kannan S. Kearns-Sayer syndrome presenting as complete heart block. Pediatr Cardiol 2008;29(3):659-62.Gregoratos G, Abrams J, Epstein AE, Freedman RA, Hayes DL, Hlatky MA, et al. ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/ AHA/NASPE Committee to Update the 1998 Pacemaker Guidelines). Circulation 2002;106(16):2145-61.Basu AP, Posner E, McFarland R, Turnbull DM. Kearnsayre syndrome. Medscape reference. Feb 4, 2010.http://emedicine.medscape.com/article/950897

Joubert Syndrome in Three Children in A Family: A Case Series

AbstractHow to Cite This Article: Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, MOazen N, Mohammadpoor T, Karimi R. Joubert Syndrome in Three Children in a family: A Case Series. Iran J Child Neurol. 2013 Winter: 7(1); 39-42. Joubert  syndrome  (JS)  is  a  rare  autosomal  recessive  central  nervous system malformation characterized by hypoplasia of the cerebellar vermis,hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features.Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders.Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs’ disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI. References1. Ahmed J, Ali US. Joubert syndrome with nephronophthisis in neurofibromatosis type 1. Saudi J Kidney Dis Transpl 2011;22(4):788-91.2. Singh P, Goraya JS, Saggar K, Ahluwalia A. A report of Joubert syndrome in an infant, with literature review. J Pediatr Neurosci 2011;6(1):44-7.3. Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010;5:20.4. Malaki M, Nemati M, Shoaran M. Joubert syndrome presenting as unilateral dysplastic kidney, hypotonia, and respiratory problem. Saudi J Kidney Dis Transpl 201;23(2):325-9.5. Louie CM, Gleeson JG. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Hum Mol Genet 2005; 15;14 Spec No. 2:R235-42.6. Gill H, Muthusamy B, Atan D, Williams C, Ellis M. Joubert syndrome presenting with motor delay and oculomotor apraxia. Case Rep Pediatr 2011;2011:262641.7. Duldulao NA, Lee S, Sun Z. Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development 2009;136(23):4033-42.8. Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 2009;15;151C(4):326-40.9. Castori M, Valente EM, Donati MA, Salvi S, Fazzi E, Procopio E, et al. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet 2005;42(2):e9.10. Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12(7):423–30.

Angelman Syndrome: A Case Report

How to Cite This Article: Ashrafzadeh F, Sadrnabavi A, Akhondian J, Beiraghi Toosi M, Mohammadi MH, Hassanpour K. Angelman Syndrome: A Case Report. Iran J Child Neurol. Spring 2016; 10(2):86-89.AbstractObjectiveAngelman syndrome (AS) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. It occurs due to an expression deletion in 15q11-q13 chromosome. In this article, we present an eight yr boy referred to Pediatrics Neurologic Clinic Mashhad, Iran for speech delay. He had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism.Metabolic screening tests and brain MRI were normal. Genetic analysis was pathognomonic for AS. ReferencesJolleff N, Ryan MM. Communication development in Angelman's syndrome. Arch Dis Child. 1993 Jul;69(1):148-50.Landsman IS, Mitzel HM, Peters SU, Bichell TJ. Are children with Angelman syndrome at high risk for anesthetic complications? Paediatr Anaesth. 2012 Mar;22(3):263-7. doi: 10.1111/j.1460-9592.2011.03661.x. Epub 2011 Aug 1.Bai JL, Qu YJ, Zou LP, Yang XY, Liu LJ, Song F. A novel missense mutation of the ubiquitin protein ligase E3A gene in a patient with Angelman syndrome. Chin Med J (Engl). 2011 Jan;124(1):84-8.Cobben JM, van Hal A, van den Puttelaar-van Hal N, van Dijk FS. [A girl with Angelman syndrome]. Ned Tijdschr Geneeskd. 2014;158(0):A8092. [Article in Dutch]Fiumara A1, Pittalà A, Cocuzza M, Sorge G. Epilepsy in patients with Angelman syndrome. Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31.Giroud M, Daubail B, Khayat N, Chouchane M, Berger E, Muzard E.Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood. Eur Neurol. 2014 Nov 29;73(1-2):119-125. [Epub ahead of print]Larson AM, Shinnick JE, Shaaya EA, Thiele EA, Thibert RL. Angelman syndrome in adulthood. Am J Med Genet A. 2014 Nov 26. doi: 10.1002/ajmg.a.36864. [Epub ahead of print]Lewis MW, Brant JO, Kramer JM, Moss JI, Yang TP, Hansen P. Angelman syndrome imprinting center encodes a transcriptional promoter. Proc Natl Acad Sci U S A. 2014 Nov 5. pii: 201411261. [Epub ahead of print]Mertz LG, Christensen R, Vogel I, Hertz JM, Nielsen KB, Grønskov K. Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis. Am J Med Genet A. 2013 Sep;161A(9):2197-203. doi: 10.1002/ajmg.a.36058. Epub 2013 Aug 2.Veiga MF, Toralles MB. [Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes]. J Pediatr (Rio J). 2002 Jul;78 Suppl 1:S55-62. [Article in Portuguese]Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003;40: 87–95.Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia. 2009 Nov;50(11):2369-76. doi: 10.1111/j.1528-1167.2009.02108.x. Epub 2009 May 12.Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1995 Apr;9(4):395-400.Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink A. Computational and experimental identification of novel human imprinted genes. Genome Res 2007;17:1723-1730

Griscelli Syndrome: A Case Report

How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, BeiraghiToosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4): 72-75.ObjectiveGriscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.ReferencesKharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J 2007 1;13(2):17.Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatrics 2004; 41:944-947.González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. Griscelli-Prunieras syndrome: report of two cases. An Pediatr (Barc) 2009 ; 70(2):164-7.Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol 2011 Dec;24(6):471-3.Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012 Oct;34(7):541-4.Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology 2011; 3(2):107-11.Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology 2012;4(2):83-5.Mahalingashetti PB, Krishnappa MH, Kalyan PS, Subramanian RA, Padhy S. Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. J Lab Physicians 2012 Jul;4(2):129-30.Schuster F, Stachel DK, Schmid I, Baumeister FA, Graubner UB, Weiss M, et al. Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. Bone Marrow Transplant 2001; 28:409-12.Shamsian BS, Nikoufar M, Esfahani SA, Shamshiri AR, Arzanian MT, Alavi S, et al. A 10-year single center survey of pediatric patients with histiocytic disorders in Iran. Turk J Pediatr 2011; 53(1):34-42.

Is Serum TGF-β1 and TGF-β2 levels Correlated to Children with Autism Intensity?

Objective Transforming growth factor-beta (TGF-β), a group of multifunctional growth factors, plays an important role in the neuron survival and neurodevelopmental functions. Some studies have evaluated the correlation between TGF-β1 and TGF-β2 abnormalities and autism spectrum disorders. In this study, we compared the TGF-β1 andTGF-β2 levels between autistic and intellectually normal individuals. Materials & Methods The study population consisted of 39 autistic and 30 age-matched intellectually normal individuals (control group). Blood samples were taken from all individuals, and all patients were divided into 2 groups (mild-to-moderate and severe) according to the childhood autism rating scale. The cytokines levels were measured by Enzyme Linked Immunosorbent Assay (ELISA). Results The mean concentration of TGF-β1 was significantly lower (P < 0.0001) in children with autism compared to the control group (25.3 ± 6.5 versus 35.1 ± 9.4 ng/mL, respectively). Also, the mean concentration of TGF-β2 in children with autism (32.35± 7.75 ng/mL) was higher compared to those in the control group (30.47± 4.36 ng/mL); however, this difference did not reach statistical significance (P = 0.21). A positive correlation was observed between TGF-β1 concentration and autism severity (r = 0.41; P = 0.02), whereas a negative correlation was found between TGF-β2 concentration andautism severity (r = -0.41; P = 0.02). Conclusion The results of the present investigation suggest that there is a decrease in the levels of TGF-β1 in the serum of patients with autism and this cytokine may be effective in the treatment of the pathophysiological aspects of autism

The Effects of Botulinum Toxin Type A on Reducing Sialorrhea in Children with Cerebral Palsy: A Self-Controlled Clinical Trial

Background: Cerebral palsy stands as the main cause of mobility disability in childhood, and the accompanying sialorrhea exacerbates health and psychological issues for both the child and the family. We aimed to assess the effect of botulinum toxin type A on reducing sialorrhea in children with cerebral palsy.Methods: This self-controlled clinical trial was executed among children afflicted with cerebral palsy. The Teacher Drooling Scale was used as the data collection tool. The intervention involved the administration of botulinum toxin A, with a dosage ranging from 30 to 50 units in each parotid gland, skillfully guided by a radiologist using ultrasound. Sialorrhea scores were compared before and after the injection.Results: Our study included 21 children with cerebral palsy and sialorrhea. After the two post-injection weeks, a noteworthy drop was observed in the sialorrhea score (4.10±0.831) compared to the pre-injection score (4.71±0.463). The sialorrhea score until the ninth month after injection (1.121±3.43) was still significantly lower than the score before injection.Conclusion: The injection of botulinum toxin A emerges as a potent medication, significantly curtailing the drooling among patients with cerebral palsy. This finding can be used to prevent aspiration pneumonia and reduce social and psychological complications in this population