Intractable Epilepsy in Children

A seizure is defined as a paroxysmal and transient occurrence of signs or symptoms resulting from abnormal synchronous or excessive neuronal activity in the brain. About 15 to 40 percent of children who have any type of seizure are resistant to standard anti-seizure drugs, so called intractable epilepsy. Before documenting the seizure attacks as refractory, the selected drugs using for the type of seizure and dose of them should be checked. There are several factors that predict development of refractory seizures. These include ag

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

MRI Findings in Children with the First Unprovoked Seizure Presenting to the Emergency Department; Does Developmental Delay Suggest the Importance of Brain MRI Evaluation?

Introduction: The first unprovoked seizure (FUS) in children is a convulsive seizure with an unknown cause, which may be due to an underlying neurological disease or a manifestation of epilepsy. Objective: The aim of this study was to evaluate the findings of brain magnetic resonance imaging (MRI) in pediatric patients with FUS, presenting to the emergency department (ED). Methods: In this cross-sectional study, all children with FUS (age: >1month and<14 years), who were referred to the ED of Qaem Hospital, Mashhad, Iran from 2016 to 2019, were investigated. Medical records, brain MRI findings, electroencephalography (EEG) results, and developmental status of children were reviewed retrospectively. Results: The brain MRI findings of 56 children with FUS were reviewed. The mean age of children was 3.92±6.05 years, and the sex distribution was equal. Seventeen (30.4%) patients had abnormal EEG findings, while 13 (23.2%) patients’ had non-specific EEG findings. Neurological examination of 4 (7.1%) children was abnormal. Overall, 6 (10.7%) patients had non-specific abnormal brain MRI findings for seizure, while 3 (5.4%) patients had specific abnormal findings. A significant relationship was observed between the developmental status of children and abnormal MRI findings (P=0.04). However, MRI findings had no significant relationship with EEG or neurological findings (P>0.05). Conclusion: It may be useful to perform brain MRI for children with FUS presenting to ED, especially those who are suspected of developmental disorders

MRI Findings in Children with the First Unprovoked Seizure Presenting to the Emergency Department; Does Developmental Delay Suggest the Importance of Brain MRI Evaluation?

Introduction: The first unprovoked seizure (FUS) in children is a convulsive seizure with an unknown cause, which may be due to an underlying neurological disease or a manifestation of epilepsy. Objective: The aim of this study was to evaluate the findings of brain magnetic resonance imaging (MRI) in pediatric patients with FUS, presenting to the emergency department (ED). Methods: In this cross-sectional study, all children with FUS (age: >1month and<14 years), who were referred to the ED of Qaem Hospital, Mashhad, Iran from 2016 to 2019, were investigated. Medical records, brain MRI findings, electroencephalography (EEG) results, and developmental status of children were reviewed retrospectively. Results: The brain MRI findings of 56 children with FUS were reviewed. The mean age of children was 3.92±6.05 years, and the sex distribution was equal. Seventeen (30.4%) patients had abnormal EEG findings, while 13 (23.2%) patients’ had non-specific EEG findings. Neurological examination of 4 (7.1%) children was abnormal. Overall, 6 (10.7%) patients had non-specific abnormal brain MRI findings for seizure, while 3 (5.4%) patients had specific abnormal findings. A significant relationship was observed between the developmental status of children and abnormal MRI findings (P=0.04). However, MRI findings had no significant relationship with EEG or neurological findings (P>0.05). Conclusion: It may be useful to perform brain MRI for children with FUS presenting to ED, especially those who are suspected of developmental disorders

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

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

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.

Comparison of new Biomarkers in the Diagnosis of Perinatal Asphyxia

  Objectives Precise and early diagnosis of neonatal asphyxia may improve its outcomes. New studies aim to identify diagnostic biomarkers in neonates at risk for brain damage. The current study was designed to evaluate the diagnostic value of new biomarkers neonatal asphyxia. Materials & Methods This prospective study was conducted with an available sampling of infants upper 35 weeks of gestational age, including neonates with asphyxia (case group) and healthy controls, 2014-2022, in Ghaem Hospital, Mashhad, Iran. Data collection was performed utilizing a researcher-made questionnaire, including maternal and neonatalcharacteristics, as well as clinical and laboratory evaluation. Serum umbilical cord levels of interleukin-6 (IL6), interleukin-1-beta (IL- 1β), pro-oxidant-antioxidant balance (PAB), and heat shock protein-70 (HSP70), as well as nucleated red blood cells count (NRBC), were determined. Data were analyzed by t-test, Chi-square, receiver operating characteristic (ROC), and regression models. Results Variables interleukin-6(IL6) (P<0.0001), IL1β (P<0.0001), PAB (P<0.0001), NRBC/100WBC (P<0.0001) and HSP70 (P<0.0001) in the two groups, the difference was statistically significant. In the diagnosis of asphyxia, the most sensitive marker (89%) was IL1β more than 2.39 pg/ml and HSP 70 upper than 0.23 ng/ml while IL6 higher than 9pg/ml determined as the most specific marker (85%). For the diagnosis of asphyxia, combination of HSP + PAB and IL6 + lL1b + PAB + NRBC/100WBC possesses the prediction power of 93.2% and 87.3% respectively. Conclusion According to data analysis, the combination of new biochemical markers (NRBC count, IL6, IL1β, PAB, HSP 70) could be a reliable marker for the diagnosis of infants with asphyxia. The composition of the HSP + PAB indicators is more valid predictions 93.2% compared to the other combined indicators for the diagnosis of asphyxiated neonates. PAB values correlate with the severity of asphyxia. &nbsp