Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View

Parvaneh KARIMZADEH

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 1-16
https://doi.org/10.22037/ijcn.v9i1.7979

How to Cite This Article: Karimzadeh P. Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View. Iran J Child Neurol. 2015 Winter;9(1): 1-16.

 

Abstract
Objective
Neurometabolic disorders are an important group of diseases that mostly are
presented in newborns and infants.
Neurological manifestations are the prominent signs and symptoms in this group
of diseases. Seizures are a common sign and are often refractory to antiepileptic drugs in untreated neurometabolic patients.
The onset of symptoms for neurometabolic disorders appears after an interval of
normal or near normal growth and development.Additionally, affected children
may fare well until a catabolic crisis occurs.
Patients with neurometabolic disorders during metabolic decompensation have
severe clinical presentation, which include poor feeding, vomiting, lethargy,
seizures, and loss of consciousness.
This symptom is often fatal but severe neurological insult and regression in
neurodevelopmental milestones can result as a prominent sign in patients who
survived.
Acute symptoms should be immediately treated regardless of the cause.
A number of patients with neurometabolic disorders respond favorably and, in
some instances, dramatically respond to treatment.
Early detection and early intervention is invaluable in some patients to prevent
catabolism and normal or near normal neurodevelopmental milestones.
This paper discusses neurometabolic disorders, approaches to this group of
diseases (from the view of a pediatric neurologist), clinical and neurological
manifestations, neuroimaging and electroencephalography findings, early
detection, and early treatment.

 

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Comparison of Serum Zinc Levels among Children with Simple Febrile Seizure and Control Group: A Systematic Review

Mohammad Mehdi NASEHI, Roya SAKHAEI, mahmood MOOSAZADEH*, Maryam ALIRAMZANY

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 17-24
https://doi.org/10.22037/ijcn.v9i1.5634

How to Cite This Article: Nasehi MM, Sakhaei R, Moosazadeh M, Aliramzany M. Comparison of Serum Zinc Levels among Children with Simple Febrile Seizure and Control Group: A Systematic Review. Iran J Child Neurol. 2015 Winter;9(1):17-24 .

Abstract
Objective
Several factors are involved in the etiology of febrile seizure (FS), among them
is zinc (Zn), which has been discussed in various studies. The present systematic review compares Zn levels in children with FS and a control group.

Materials & Methods
We searched keywords of febrile seizure, febrile convulsion, children, childhood,
fever, trace elements, risk factor, predisposing, zinc, Zn, and epilepsy in the
following databases: SCOPUS, PubMed, and Google Scholar. The quality of
research papers was assessed using a checklist. Data was extracted from primary
studies based on demographic variables and amounts of Zn in case and control
groups.

Results
Twenty primary studies were entered in the present study. Of which, eighteen
studies, reported that Zn serum levels were significantly lower in the case group
(patients with FS) than the control group.

Conclusion
The present systematic review indicated that Zn is one factor for predicting FS.
A low level of this element among children can be regarded as a contributing
factor for FS, a conclusion with a high consensus among different studies carried
out in different parts of the world.

 

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Diagnostic accuracy of frozen section in Central nervous system lesions, a 10-year study.

Maliheh KHODDAMI*, Ali AKBARZADEH, Afshin MORDAI, Farahnaz BIDARI-ZEREHPOUSH, Hamid ALIPOUR, Sara SAMADZADEH, Bijan ALIPOUR

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 25-30
https://doi.org/10.22037/ijcn.v9i1.6073

How to Cite This Article: Khoddami M, Akbarzadeh A, Mordai A, Bidari Zerehpoush F, Alipour H, Samadzadeh S, Alipour B.Diagnostic Accuracy of Frozen Section of Central Nervous System Lesions: A 10-Year Study. Iran J Child Neurol. 2015 Winter;9(1):25-30.

 

Abstract

Objective

Definitive diagnosis of the central nervous system (CNS) lesions is unknown prior to histopathological examination. To determine the method and the endpoint for surgery, intraoperative evaluation of the lesion helps the surgeon.

In this study, the diagnostic accuracy and pitfalls of using frozen section (FS) of

CNS lesions is determined.

Materials & Methods

In this retrospective study, we analyzed the results of FS and permanent diagnoses of all CNS lesions by reviewing reports from 3 general hospitals between March 2001 and March 2011.

Results

273 cases were reviewed and patients with an age range from 3 to 77 years of age were considered. 166 (60.4%) had complete concordance between FS and permanent section diagnosis, 83 (30.2%) had partial concordance, and 24 cases (9.5%) were discordant. Considering the concordant and partially concordant cases, the accuracy rate was 99.5%, sensitivity was 91.4%, specificity was 99.7%, and positive and negative predictive values were 88.4% and 99.8%, respectively.

Conclusion

Our results show high sensitivity and specificity of FS diagnosis in the evaluation of CNS lesions. A Kappa agreement score of 0.88 shows high concordance for FS results with permanent section. Pathologist’s misinterpretation, small biopsy samples (not representative of the entire tumor), suboptimal slides, and inadequate information about tumor location and radiologic findings appear to be the major causes for these discrepancies indicated from our study.

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Spinal Fluid Lactate Dehydrogenase Level Differentiates between Structural and Metabolic Etiologies of Altered Mental Status in Children

Nahid KHOSROSHAHI, Parastoo ALIZADEH, Mehdi KHOSRAVI, Peyman SALAMATI, Kamyar KAMRANI*

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 31-36
https://doi.org/10.22037/ijcn.v9i1.5456

How to Cite This Article: Khosroshahi N, Alizadeh P, Khosravi M, Salamati P, Kamrani K. Spinal Fluid Lactate Dehydrogenase Level Differentiates between Structural and Metabolic Etiologies of Altered Mental Status in Children. Iran J Child Neurol. 2015 Winter;9(1):31-36.

Abstract
Objective
Altered mental status is a common cause of intensive care unit admission in
children. Differentiating structural causes of altered mental status from metabolic etiologies is of utmost importance in diagnostic approach and management of the patients. Among many biomarkers proposed to help stratifying patients with altered mental status, spinal fluid lactate dehydrogenase appears to be the most promising biomarker to predict cellular necrosis.


Materials & Methods
In this cross sectional study we measured spinal fluid level of lactate
dehydrogenase in children 2 months to 12 years of age admitted to a single center intensive care unit over one year. Spinal fluid level of lactate dehydrogenase in 40 pediatric cases of febrile seizure was also determined as the control group.


Results
The study group included 35 boys (58.3%) and 25 girls (41.7%). Their mean
age was 2.7+/-3 years and their mean spinal fluid lactate dehydrogenase level
was 613.8+/-190.4 units/liter. The control group included 24 boys (55.8%) and
19 girls (44.2%). Their mean age was 1.3+/-1.2 years and their mean spinal
fluid lactate dehydrogenase level was 18.9+/-7.5 units/liter. The mean spinal
fluid lactate dehydrogenase level in children with abnormal head CT scan was
246.3+/-351.5 units/liter compared to 164.5+/-705.7 in those with normal CT
scan of the head (p=0.001).

Conclusion
Spinal fluid lactate dehydrogenase level is useful in differentiating structural and
metabolic causes of altered mental status in children.

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The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis

Mehri KHATAMI, Mohammad Mehdi HEIDARI, Reza MANSOURI, Fatemeh MOUSAVI

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 37-41
https://doi.org/10.22037/ijcn.v9i1.5816

How to Cite This Article: Khatami M, Heidari MM, Mansouri R, Mousavi F. The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis. Iran J Child Neurol. 2015 Winter; 9(1):37-41.

Abstract
Objective
Multiple Sclerosis (MS) is a common disease of the central nervous system. The interaction between inflammatory and neurodegenerative processes typically results in irregular neurological disturbances followed by progressive disability.
Mitochondrial dysfunction has been implicated in neurodegenerative disorders. 
The DNA polymerase-gamma (POLG) gene, which encodes the catalytic subunit of enzyme responsible for directing mtDNA replication, contains a poly glutamine tract (poly-Q) in the N-terminal, encoded by a CAG sequence in exon 2.

Materials & Methods
We analyzed the POLG trinucleotide repeats in 40 Iranian patients with MS (27 females and 13 males with an age range of 18–55); and 47 healthy age, gender, and ethnic matched controls were chosen by PCR-SSCP analysis. 

Results
Our results indicated that the most common allele in patients had 10 consecutive CAG repeats (10Q). Other alleles of 11and 12 trinucleotide repeats were detected.
We did not find any difference between the CAG repeat length distribution in controls and MS patients.

Conclusion
No correlation was observed in the POLG gene CAG repeat with pathogenesis of MS, but it looks that other point mutations in POLG gene may have an important role in the disease’s pathogenesis and produced more significant results.

References

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Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran

Mohammad BARZEGAR, Parinaz HABIBI, Mortaza Mortaza BONYADY, Vahideh TOPCHIZADEH, Shadi SHIVA*

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 42-48
https://doi.org/10.22037/ijcn.v9i1.6224

How to Cite This Article: Barzegar M, Habibi P, Bonyady M, Topchizadeh V, Shiva Sh. Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran. Iran J Child Neurol. 2015 Winter; 9(1): 42-48.

Abstract
Objective
Duchene and Becker Muscular Dystrophy (DMD/ BMD) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. The frequency and distribution of dystrophin gene deletions in DMD/ BMD patients show different patterns among different populations. This study investigates the deletion rate, type, and distribution of this gene in the Azeri Turk population of North West Iran.

Materials &Methods
In this study, 110 patients with DMD/ BMD were studied for intragenic deletions in 24 exons and promoter regions of dystrophin genes by using multiplex PCR.

Results
Deletions were detected in 63 (57.3%) patients, and around 83% localized in the mid-distal hotspot of the gene (on exons 44–52), 21 cases (33.3 %) with singleexon deletions, and 42 cases (66.6%) with multi-exonic deletions. The most frequent deleted exons were exon 50 (15 %) and exon 49 (14%). No deletion was detected in exon 3.

Conclusion
This study suggests that the frequency and pattern of dystrophin gene deletions in DMD/ BMD in the Azeri Turk population of North West Iran occur in the same pattern when compared with other ethnic groups.

References

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Comparative Efficacy of Zonisamide and Pregabalin as an Adjunctive Therapy in Children with Refractory Epilepsy

Mohammad Mahdi TAGHDIRI, Mohammad Kazem BAKHSHANDEH BALI, Parvaneh KARIMZADEH*, Seyed Hassan TONEKABONI, Mohammad GHOFRANI

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 49-55
https://doi.org/10.22037/ijcn.v9i1.6054

How to Cite This Article: Taghdiri MM, Bakhshandeh Bali MK, Karimzadeh P, Ashrafi MR, Tonekaboni SH, Ghofrani M. Comparative Efficacy of Zonisamide and Pregabalin as an Adjunctive Therapy in Children with Refractory Epilepsy. Iran J Child Neurol. 2015 Winter;9(1):49-55.

Abstract
Objective
Approximately one third of epileptic children are resistant to anticonvulsant drugs. This study evaluates the effectiveness, safety, and tolerability of pregabalin as adjunctive therapy in epileptic children relative to Zonisamide.

Materials & Methods
From April 2012 to November 2012,121 children were referred to Mofid
Children’s Hospital with intractable epilepsy and enrolled in the study. The patients were divided into two groups (A and B) randomly. Group A was treated with Zonisamide and group B was treated with Pregabalin in addition to prior medication. We assessed seizure frequency and severity during a 4-week interval from the beginning of the drug treatment and compared the efficacy of each in these two groups.

Results
Group A consists of 61 patients, 26 (42.6%) girls, and35 (57.4%) boys with an age range from 1.5 months–14 years (mean, 73.9± 44.04 months). Group B consists of 60 patients, 31(51.7%) girls, 29 (48.3%) boys with an age range from 6 months–16 years (mean, 71±42.9 months). Age, gender, seizure onset, seizure frequency, seizure type, and previous antiepileptic medications showed that there was no significant difference between the groups (P>0.05). Zonisamide and pregabalin reduced more than 50% of seizure intensity in 40.2%; 45.8% of patients also had a seizure frequency decline between35.8–44.4%, respectively and there was no significant superiority between these two novel anticonvulsants (P>0.05).

Conclusion
In this survey both pregabalin and Zonisamide were impressive for seizure control in children with intractable epilepsy and well sustained with mild complications that were completely reversible.

 

Frequency, Causes, and Findings of Brain CT Scans of Neonatal Seizure at Besat Hospital, Hamadan, Iran

Fateme EGHBALIAN*, Bahman RASULI, Farnaz MONSEF

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 56-63
https://doi.org/10.22037/ijcn.v9i1.5418

How to Cite This Article: Eghbalian F, Rasuli B, Monsef F. Frequency, Causes, and Findings of Brain CT Scans of Neonatal Seizure at Besat Hospital, Hamadan, Iran. Iran J Child Neurol. 2015 Winter;9(1):56-63.

Abstract

Objective

Neonatal seizures are the most common neurological symptoms and often signal an underlying serious neurologic condition. This study determines the frequency of neonatal seizure, predisposing factors, and brain computed tomography (CT) scan findings.

Materials & Methods

In a descriptive cross-sectional study, we evaluated all neonates with seizures who had been hospitalized in Besat hospital from 2007–2012. All data were gathered with questionnaires and used to compare with statistical tests by SPSS (ver 16).

 

Results

141 (4.08%) neonates (M:F; 1:2.2) were diagnosed with neonatal seizures. From the total number of 3,452 neonatal hospitalization, 78% of neonates with seizures were less than 10 days old and 60.3% of infants were born from natural vaginal delivery. As the most common cause, hypoxic-ischemic encephalopathy in this study was associated with 31.3% (n=44) of neonatal seizures and with the highest mortality rate (n=6). Among admitted neonates with seizures, the overall mortality rate was 12.8% (18 cases). A total of 33.3% of patients (47 cases) had abnormal CT scan reports and 24.8% (35 cases) of patients were not evaluated with a CT scan. Hypoxic-ischemic encephalopathy (47%) and local ischemic changes (25.5%) were the most common findings in the CT scans of neonates with seizures.

Conclusion

There was a significant correlation between neonatal seizures and delivery circumstances (p-value < 0.05). Therefore, with improvement of obstetric and delivery circumstances, early detection of predisposing factors and other rare conditions, and rapid effective treatment of these contributing factors, the rate of neonatal seizure in this period can be reduced.

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Comparative Study of Sustained Attentional Bias on Emotional Processing in ADHD Children to Pictures with Eye-Tracking

Ebrahim PISHYAREH, Mehdi EHRANI-DOOST, Javad MAHMOODI-GHARAIE, Anahita KHORRAMI, Saeid Reza RAHMDAR

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 64-70
https://doi.org/10.22037/ijcn.v9i1.5589

How to Cite This Article: Pishyareh E, Tehrani-doost M, Mahmoodi-gharaie J, Khorrami A, Rahmdar SR. A Comparative Study of Sustained
Attentional Bias on Emotional Processing in ADHD Children to Pictures with Eye-Tracking. Iran J Child Neurol. 2015 Winter;9(1):64-70.

Abstract

Objective

ADHD children have anomalous and negative behavior especially in emotionally related fields when compared to other. Evidence indicates that attention has an impact on emotional processing. The present study evaluates the effect of emotional processing on the sustained attention of children with ADHD type C.

Materials & Methods

Sixty participants form two equal groups (each with 30 children) of normal and ADHD children) and each subject met the required selected criterion as either a normal or an ADHD child. Both groups were aged from 6–11-years-old. All pictures were chosen from the International Affective Picture System (IAPS) and presented paired emotional and neutral scenes in the following categories: pleasant-neutral; pleasant-unpleasant; unpleasant-neutral; and neutral–neutral. Sustained attention was evaluated based on the number and duration of total fixation and was compared between the groups with MANOVA analysis.

Results

The duration of sustained attention on pleasant in the pleasant-unpleasant pair was significant. Bias in duration of sustained attention on pleasant scenes in pleasant-neutral pairs is significantly different between the groups.

Conclusion

Such significant differences might be indicative of ADHD children deficiencies in emotional processing. It seems that the highly deep effect of emotionally unpleasant scenes to gain the focus of ADHD children’s attention is responsible for impulsiveness and abnormal processing of emotional stimuli.

 

References

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Causes and Associated Factors of Headaches among 5 to 15-year-old Children Referred to a Neurology Clinic in Kashan, Iran

Ahmad TALEBIAN, Babak SOLTANI*, Mostafa HAJI REZAEI

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 71-75
https://doi.org/10.22037/ijcn.v9i1.5679

How to Cite This Article: Talebian A, Soltani B, Haji Rezaei M. Causes and Associated Factors of Headaches among 5 to 15-year-old Children
Referred to a Neurology Clinic in Kashan, Iran. Iran J Child Neurol. 2015 Winter;9(1):71-75.

Abstract

Objective

Headaches are common neurologic problems for children and adolescents. They are divided into two types: primary and secondary. Primary headaches include migraines and tension-type as well as comprise the majority of headaches. We detect the causes of headaches and their associations with demographic variables among children and adolescents.

Materials & Methods

This cross-sectional study was performed on 5–15 year-old children with headaches from March 2010 to April 2012 who presented at a pediatric neurology clinic in Kashan, Iran. Diagnosis of headaches was done in accordance with the International Classification of Headache Disorders. Data regarding the type of headache, age, gender, pain severity, aura, family history, and sleep disorder were collected.

Results

One hundred fourteen children (44 male and 70 female) with headaches were enrolled in the study. The types of headaches were comprised as follows: 67 cases of migraines, 38 cases of tension-type headaches, 2 cases of cluster headaches, and 7 cases of secondary headaches. Pulsating headaches, family history of headaches, insomnia, and pain severity had higher prevalence in migrainous patients.

Conclusion

Physicians should extend their information gathering about primary and secondary headaches. Sleep disturbances and a family history of headaches were the most important factors associated with migraine headaches.

References

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Psychometric Properties of the Persian Version of Cerebral Palsy Quality of Life Questionnaire for Children

Farin SOLEIMANI, Roshanak VAMEGHI MD, Anoshirvan KAZEMNEJAD, Nazila AKBAR FAHIMI, Zahra NOBAKHT, Mehdi RASSAFIANI*

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 76-86
https://doi.org/10.22037/ijcn.v9i1.6060

How to Cite This Article: Soleimani F, Vameghi R, Kazemnejad A, Akbar Fahimi N, Nobakht Z, Rassafiani M. Psychometric Properties of the Persian Version of Cerebral Palsy Quality of Life Questionnaire for Children. Iran J Child Neurol. 2015 Winter;9(1):76-86.

 

Abstract

Objective

Cerebral palsy (CP) is the most common cause of chronic disability that restricts participation in daily life for children. Thereby, it is comprised of quality of life. Quality of life (QOL) measures have been a vital part of health outcome appraisals for individuals with CP and to obtain empirical evidence for the effectiveness of a range of interventions. The CP QOL-Child is a condition-specific QOL questionnaire designed for children with CP to assess well-being rather than ill-being.

Materials & Methods

Forward and backward translations of the CP QOL-Child were performed for: (1) the primary caregiver form (for parents of children with CP aged 4–12 years); and (2) the child self-report form (for children with cerebral palsy aged 9–12 years). Psychometric properties assessment included reliability, internal consistency, and item discrimination, construct validity with Gross Motor Function Classification System (GMFCS) and Manual Ability Classification System (MACS) was done. SPSS was used to analyze the results of this study.

Results

A sample of 200 primary caregivers forchildren with CP (mean = 7.7 years) and 40 children (mean = 10.2 years) completed. Internal consistency ranged from 0.61–0.87 for the primary caregivers form, and 0.64–0.86 for the child self-report form. Reliability ranged from 0.47–0.84. Item discrimination analysis revealed that a majority of the items (80%) have high discriminating power. Confirmatory factor analysis demonstrated a distinguishable domain structure as in the original English version. Moderate associations were found between lower QOL and more severe motor disability(GMFCS; r = .18–.32; p < .05 and MACS; r= .13 - .40; p < .05). The highest correlation between the primary caregiver and child forms on QOL was in the domain of functioning and consistent with the English version.

Conclusion

Content validity, item discriminant validity, internal consistency, and test-retest reliability of the Persian version of the CP QOL- Child were all acceptable. Further study of concurrent validity of this version is needed.

 

 

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Neural Differentiation of Human Umbilical Cord Mesenchymal Stem Cells by Cerebrospinal Fluid

Shirin FARIVAR*, Zahra MOHAMADZADE, Reza SHIARI, Alireza FAHIMZAD

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 87-93
https://doi.org/10.22037/ijcn.v9i1.4257

How to Cite This Article: : Farivar S, Mohamadzade Z, Shiari R, Fahimzad AR. Neural Differentiation of Human Umbilical Cord
Mesenchymal Stem Cells by Cerebrospinal Fluid. . Iran J Child Neurol. 2015 Winter; 9(1):87-93.

 

 Abstract

Objective

Wharton’s jelly (WJ) is the gelatinous connective tissue from the umbilical cord. It is composed of mesenchymal stem cells, collagen fibers, and proteoglycans. The stem cells in WJ have properties that are interesting for research. For example, they are simple to harvest by noninvasive methods, provide large numbers of cells without risk to the donor, the stem cell population may be expanded in vitro, cryogenically stored, thawed, genetically manipulated, and differentiated in vitro. In our study, we investigated the effect of human cerebrospinal fluid (CSF) on neural differentiation of human WJ stem cells.

Material & Methods

The cells in passage 2 were induced into neural differentiation with different concentrations of human cerebrospinal fluid. Differentiation along with neural lineage was documented by expression of three neural markers: Nestin, Microtubule-Associated Protein 2 (MAP2), and Glial Fibrillary Astrocytic Protein (GFAP) for 21 days. The expression of the identified genes was confirmed by Reverse Transcriptase PCR (RT-PCR).

Results

Treatment with 100 and 200μg/ml CSF resulted in the expression of GFAP and glial cells marker on days 14 and 21. The expression of neural-specific genes following CSF treatment was dose-dependent and time-dependent. Treatment of the cells with a twofold concentration of CSF, led to the expression of MAP2 on day 14 of induction. No expression of GFAP was detected before day 14 or MAP2 before day 21, which shows the importance of the treatment period. In the present study, expression analysis for the known neural markers: Nestin, GFAP, and MAP2 using RT-PCR were performed. The data demonstrated that CSF could play a role as a strong inducer.

Conclusion

RT-PCR showed that cerebrospinal fluid promotes the expression of Nestin, MAP2, and GFAP mRNA in a dose-dependent manner, especially at a concentration of 200 μl/ml. In summary, CSF induces neurogenesis of WJ stem cells that encourages tissue engineering applications with these cells for treatments of neurodegenerative defects and traumatic brain injury.

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Homocystinuria: Diagnosis and Neuroimaging Findings - of Iranian Pediatric patients

Parvaneh KARIMZADEH, Narjes JAFARI*, Mohammad Reza ALAI, Sayena JABBEHDARI, Habibeh NEJAD BIGLARI

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 94-98
https://doi.org/10.22037/ijcn.v9i1.7994

How to Cite This Article: Karimzadeh P, Jafari N, Alai MR, Jabbehdari S, Ahmad Abadi F, NejadBiglari H. Homocystinuria: Diagnosis and Neuroimaging Findings - of Iranian Pediatric Patients. Iran J Child Neurol. 2015 Winter;9(1):94-98.

Abstract
Objective
Homocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis.

Materials & Methods
The patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran between 2004 and 2014 were included in our study. The disorder was confirmed by clinical andneuroimaging findings along withneurometabolic and genetic assessment fromreference laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging
findings of 20 patients with homocystinuria.

Results
A total of 75% of patients were offspring from consanguineous marriages. A total of 95% of patients had a history of developmental delay and 40% had developmental regression. A total of 75% had seizures from these 45% showed refractory seizures. Seizures among 13 patients werecontrolled with suitable homocystinuria treatment. The patients with homocystinuriawere followed for approximately 10 years and the follow-ups showed that the patients with an early diagnosis and treatment had more favorable clinical responses for growth index,
controlled refractory seizures, neurodevelopmental status, and neuroimaging findings. Neuroimaging findings include brain atrophy and/or white matter involvement.

Conclusion
According to the results of this study, we suggest that early assessment and detectionplayan important role in the prevention of disease progression and clinical signs. Homocystinuria in patients with a positive family history, developmental delays, or regression, refractory, or recurrent seizures should take precedence over other causes.

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How to Cite This Article: Ghanizadeh A, Berk M. Beta-Lactam Antibiotics as A Possible Novel Therapy for Managing Epilepsy and Autism, A Case Report and Review of Literature. Iran J Child Neurol. 2015 Winter;9(1):99-102.

Abstract

Autism is a disorder of unknown etiology. There are few FDA approved medications for treating autism. Co-occurring autism and epilepsy is common, and glutamate antagonists improve some symptoms of autism. Ceftriaxone, a beta-lactam antibiotic, increases the expression of the glutamate transporter 1 which decreases extracellular glutamate levels. It is hypothesized that modulating astrocyte glutamate transporter expression by ceftriaxone or cefixime might improve some symptoms of autism. This case report of a child with autism and epilepsy suggests a decrease in seizures after taking cefixime.

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Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients

Razieh BOROUJERDI, Mohsen SHARIATI, Hosein NADDAFNIA, Hojatolah REZAEI*

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 103-106
https://doi.org/10.22037/ijcn.v9i1.6080

How to Cite This Article: Boroujerdi R, Shariati M, Naddafnia H, Rezaei H. Small Duplication of HPRT 1 Gene May Be Causative For Lesh-
Nyhan Disease in Iranian Patients. Iran J Child Neurol. 2015 Winter;9(1):103-106.

Abstract

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along with a variety of neurological manifestations that depend on a degree of the enzymatic deficiency. Inheritance of HPRT deficiency is X-linked recessive; thus, males are generally more affected and heterozygous females are carriers (usually asymptomatic). Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. More than 300 mutations in the HPRT1 gene have been detected. Diagnosis can be based on clinical and biochemical findings as well as enzymatic and molecular testing. Molecular diagnosis is the best way as it allows for faster and more accurate carrier and prenatal diagnosis. In this report, a new small duplication in the HPRT1 gene was found by sequencing, which has yet to be reported.

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Epstein-Barr Virus Encephalitis: A Case Report

Somayh HASHEMIAN, Farah ASHRAFZADEH*, Javad AKHONDIAN, Mehran BEIRAGHI TOOSI

Iranian Journal of Child Neurology, Vol. 9 No. 1 (2015), 22 January 2015 , Page 107-111
https://doi.org/10.22037/ijcn.v9i1.5096

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.

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