فهرست مطالب narjes jafari

Migraine is a common disorder in children that its prophylaxis with minimal side effects is momentous. This study aimed to compare the efficacy of Pregabalin and Sodium valproate in preventing migraine attacks.

Sixty-four children (aged 6-18) with migraines were recruited, as defined by Internation Headache Criteria (ICHD-III). They were randomly assigned to two groups: Sodium Valproate (n=32) and Pregabalin (n=32). The minimum dosage of drugs was prescribed in both groups. The patients were followed for four months. The parameters such as frequency, intensity, duration of migraine attacks, and the number of painkillers that the patients used monthly were recorded. The Spence Children’s anxiety scale was also used to evaluate medications’ effect on patients’ anxiety levels.

Two medications were equally effective in reducing the intensity and duration of attacks. Additionally, their effect on reducing the anxiety level of patients was equal. There was a significant difference between the effect of drugs on the frequency of migraine attacks at the end of the first and fourth months and the number of painkillers used at the end of the fourth month. The frequency of attacks was decreased by more than 50% in twenty-eight patients (90%) of Pregabalin recipients and twenty-one patients (84%) of Sodium Valproate recipients.

considering the better effect of Pregabalin in the reduction of frequency of migraine attacks and pain-reducing medications consumption, Pregabalin could be a proper substitute to Sodium valproate for migraine prophylactic treatment in children.

Retinopathy of diabetes is a chronic diabetes mellitus complication affecting retinal vessels, and some ocular complications’ molecular mechanisms remain obscure. To evaluate the expression of HLA-G1, HLA-G5, miRNA-181a, and miRNA-34a in the lens epithelial cells of patients with retinopathy of diabetes. In a case-control study, 30 diabetic patients with retinopathy, 30 diabetic patients without retinopathy, and 30 cataract patients without diabetes mellitus as the control group were enrolled after a full description with details about the study methods and objectives. The expression of HLA G1, HLA G5, miRNA-181a, and miRNA-34a in lens epithelial cells was assessed by quantitative RT PCR. Moreover, the levels of HLA-G protein in aqueous humor were evaluated by the ELISA method. HLA-G1 expression was significantly upregulated in the retinopathy group (P=0.003). The aqueous humor of diabetic retinopathy patients contained significantly higher levels of HLA-G protein compared with the non-diabetic patients (P=0.001). miRNA-181a was significantly downregulated in the diabetic retinopathy group compared with the patients without diabetes (P=0.001). In addition, miRNA-34a was upregulated in the retinopathy group (P=0.009). Taken together, the present results showed that HLA-G1 and miRNA-34a can be valuable markers for diabetic retinopathy. Our data offers new perspectives for improving the control of inflammation in the lens epithelial cells by considering HLA-G and miRNA.

Stuttering is a common problem at all ages and it is thus required to treat this problem since childhood. Atomoxetine is currently used for the treatment of attention deficit hyperactivity disorder (ADHD) and can also be effective for the treatment of stuttering due to its selective inhibition of norepinephrine reuptake and dopaminergic properties. Therefore, this randomized clinical trial (RCT) aimed to evaluate the effect of Atomoxetine on children’s stuttering.

Children aged 4–12 years, diagnosed with stuttering, who referred to pediatric neurology clinic, were randomly divided into experimental (N=50) and control (N=50) groups. One group received atomoxetine plus speech therapy and the other group only speech therapy. Both groups completed the Stuttering Severity Questionnaire (SSI4) at baseline (on the first visit) and three months after the intervention.

Most (67%) were boy; 24% aged <60mo,46% 60–95mo,and 30% >95mo. About half (52%) had a positive family history of stuttering. Stuttering severity was highest at ages of 60–95mo, in left–handed children,those who used formula,and those who felt insecure in the family; but was not different based on child’s sex, concomitant ADHD, multilingualism, facial or movement tics, based on sleeping hours, and using teats. Mean stuttering severity reduced in both groups (P<.001) with a greater decrease in the experimental group, compared to the control group (P=.011).

Atomoxetine,plus speech therapy,is effective for the treatment of children’s stuttering and can be used as a complementary treatment strategy in these patients.

Thalassemia syndromes are the most prevalent monogenic hemoglobinopathy in the world. In Iran, thalassemia is a public health problem because this country has been located on the thalassemia belt. In recent decades, considering that the life expectancy of patients with thalassemia has dramatically improved, some unrecognized complications have emerged in these individuals. One of these complications is a hypercoagulable state that may lead to thromboembolic events (TEE). The TEE may involve any organ in the body, including the central nervous system. Ischemic cerebrovascular events in thalassemic patients have been divided into two categories, namely overt stroke and silent cerebral infarcts (SCI). Overt stroke often develops in patients with beta-thalassemia major; however, patients with thalassemia intermedia usually suffer from SCI. This review article discusses brain vascular involvement.

Developmental delay in preterm infants was estimated to be more common than term infants. Identifying the factors predisposing to developmental delay can help experts and health professionals in this field to prevent developmental delay of the infants, and leads to better management of the condition of them. This study aimed to evaluate and investigate the predisposing factors of developmental delay in preterm infants in the first year of their lives.

In this analytical cross-sectional study, 87 preterm infants were enrolled in the study by convenience sampling during the period of April 2016 to the end of March 2017 from two educational hospitals of Shahid Beheshti University of Medical Sciences (Imam Hussein hospital and Mahdiyeh hospital). Demographic and other initial data such as age, sex, gestational age, and the data about clinical problems observed at birth were collected through infantschr('39') medical records and were recorded in a special form for each infant. Also, the ASQ test was used to assess infantschr('39') developmental status at one year of age.

Based on the findings, 23 infants (26.4%) had the abnormal developmental condition at the end of one year. There was a significant relationship between infantschr('39') developmental status and their age, birth height, one-year-old weight, one-year-old height, duration of ventilator use, Apgar scores at first and twentieth minutes, seizures, reflex reduction, pneumonia, breastfeeding status in the first year of life, Retinopathy of prematurity (ROP), receiving occupational therapy services, and electrocardiogram (ECG) findings at one year of age. Among these variables, only breastfeeding status in the first year of life was able to predict infantschr('39') developmental status at the end of one year (OR=0.18).

This study showed that the risk of developmental delay in preterm infants who are breastfed in the first year of life or fed the combination of breast milk and supplemental feeding is one-fifth lower than other preterm infants who were not breastfed.

The potential role of microRNAs (miRNA or MIR) as therapeutic molecules has moved them from basic research to the field of cancer therapy. High expression of miR-93 and low expression of miR-34a have previously been indicated in prostate cancer (PC), which is the second leading cause of cancer-related death in men. Androgen receptor (AR) and prostate-specific antigen (PSA) play key roles in the initiation and progression of this cancer. Therefore, this study aimed to investigate the effects of the transfection and co-transfection of miR-34a mimic and miR-93 inhibitor with or without epigallocatechin-3-gallate (EGCG) on prostate cancer cell line and also to evaluate their effects on the expression of AR, PSA. Human lymph node carcinoma of the prostate (LNCaP) cells were treated with miR-34a mimic or/and miR-93 inhibitor with or without EGCG. Gene or protein expressions were assessed by real-time PCR or western blotting of lysates. The transfection with miR-34a mimics significantly reduced the mRNA expression of AR (p=0.0016), and PSA (p=0.038) compared to the control. Also, the miR-93 inhibitor led to a decrease in the mRNA expression of AR (p=0.0057) and PSA (p>0.05) compared to the control group. Furthermore, the co-transfection, along with EGCG, caused more decrease in both the AR (p<0.001) and the PSA (p=0.003) expression compared with the co-transfection without EGCG. Our study indicates that the reduced expression of AR and PSA in PC cells followed by treatment with miR-34a mimic and miR-93 inhibitor and their combination with EGCG as a natural substance may be a promising therapeutic way for controlling the growth of these malignant cells.

Identifying the predictors of seizure recurrence is of great help in controlling the disease and preventing recurrence in patients. This study aimed to determine the risk factors for recurrence of seizures in children younger than 14 years of age.

In this cross-sectional analysis, we reviewed the medical records of patients admitted to pediatric neurology clinic in Tehran Imam Hussein Hospital between June 2016 and November 2017. Information including patients’ demographic and clinical data, and seizure recurrence and times were extracted. Data were analyzed in SPSS V23.

The participants were 210 patients (mean age: 62.40±46.79 months), including 53% males. Recurrence of seizures was observed in 81 patients. In 45 patients with recurrent seizures and 101 patients without recurrent seizure, the type of seizure was tonic-clonic. Abnormal developments were seen in 45.7% of patients with recurrent seizures and 15.5% of patients without recurrent seizures. Gestational age and abnormality in first electroencephalogram (EEG) were identified as predictors of seizure recurrence.

Preventive treatments are highly recommended in patients with low gestational age and disordered EEG to prevent subsequent seizures and their complications

Acute necrotizing encephalopathy of childhood (ANEC) is a disease characterized by post infectious (respiratory or gastrointestinal) encephalopathy accompanying with fever and  rapid alteration of consciousness and seizures. Acute encephalopathy following viral infection with seizure and altered of consciousness and absence of CSF pleocytosios with occasional increased level of protein are clinical characteristics of ANEC (1). This disease is nearly exclusively in East Asian infants and children who had been previously healthy (2). Serial magnetic resonance imaging examinations have demonstrated symmetric lesion involving the thalami, brainstem, cerebellum, and white matter in this disease (8). The condition accompanies a poor prognosis with high morbidity and mortality rates.We introduce 3 cases with ANE those referred to our hospital during 2 weeks and created this idea that we have an epidemic.

The current study aimed at identifying the role of seizure types and related features in differentiation between neurometabolic disorders and other causes of seizure.Materials &

The current cross-sectional study was conducted at two referral children hospitals in Tehran, Iran from 2011 to 2018. The study population included 120 patients presenting with seizure due to neurometabolic disorders and 120 cases due to other causes. The types of seizure and related clinical findings were assessed in both groups.

There was a significant difference in the frequency of seizure types in two groups. Tonic and myoclonic seizures as well as infantile spasm were observed more commonly in the patients with neurometabolic disorders, while atonic, partial and generalized tonic-clonic seizures , and lack of seizure were more common in the control group. In addition, frequency of refractory seizure, age at onset of seizure, and pattern of involvement in brain imaging were helpful for seizure differentiation.

The pattern of seizure and related findings vary in patients with metabolic disorders and are helpful for seizure differentiation. Thus, these factors can contribute to early diagnosis and treatment.

Stromal cell-derived factor-1 alpha (SDF-1α) has been shown to be up-regulated in a variety of malignancies. So that, its expression is associated with poor prognosis and invasiveness. Natural killer (NK) cells are important effector cells against virus-infected and transformed cells. Especially they play a key role in tumor immune surveillance. Whereas it was not well understood whether SDF-1α modulates anti-tumor immune response or not, the purpose of the present study was to investigate the effect of SDF-1α on the cytotoxic properties of peripheral blood NK cells. Human peripheral blood NK cells were freshly isolated using MACSxpess system and cultured in the presence or absence of recombinant human SDF-1α or SDF-1α plus CXCR4 antagonist, AMD3100. CD107a degranulation assay was conducted through the co-culture of NK cells with K562 cells. The percentage of CD107a positive cells was assessed by flowcytometry. Effect of SDF-1α was also examined on the mRNA levels of NKG2A and NKG2D as indicator examples of NK cell inhibitory and activating receptors, respectively. SDF-1α significantly decreased the degranulation activity of NK cells (p=0.04). The mRNA content of NKG2D was down-regulated under the influence of SDF-1α (p=0.03). Moreover, AMD3100 exhibited a trend in recovering the NKG2D mRNA level to its un-treated state (p=0.05).  The present study reveals that SDF-1α has a negative impact on NK cell activity and might is involved in tumor immune-suppression. Thus, it can be concluded that microenvironment manipulations targeting SDF-1α may reinforce current cancer therapies by disturbing one of the immune-suppressive axes in the cancerous milieu.

Gaucher disease (GD) is a rare inherited metabolic disorder and it is the most common lysosomal storage disorders.GD caused by a deficiency in glucocerebrosidase enzyme activity. GD has been classified according to neurological manifestations into three types: type 1, without neuropathic findings, type 2 with acute infantile neuropathic signs and type 3 or chronic neuropathic form. We evaluated neurological deficits in the patients with GD1 in different studies.
The purpose of this study is evaluation of neurologic deficits in GD type 1(adult form).
Prior to 1973' there had been no convincing evidence of neurological involvement in the GD1 and had been mentioned only for GD3 and GD2, but after that, multiple studies reported central nervous involvement in GD1. In this study we reviewed articles that assessed about neurological manifestation of GD Patients with GD1 show some neurological deficits including cognitive impairment, developmental disability, behavioral disorder, microcephaly and increased deep tendon reflexes. Of course, neurological signs in patients with other types of GD are different and are included: seizure, supra nuclear gaze palsy, cerebellar signs, and ataxia.
So, the current nomenclature for 3 types of Gaucher disease based on neurological symptoms is not true. Patients with GD1 appear different neurological signs or symptoms in young ages that should be detected earlier.

Predicting the response to treatment in patients treated with anti-epilepsy drugs are always a major challenge. This study was conducted to predict the response to treatment in patients with epilepsy.
Material and This analytical questionnaire-based study was conducted in 2014 among patients with epilepsy admitted to Mofid Children's Hospital. The inclusion criteria were children 2 months to 12 years of age with epilepsy and patients who experienced fever and seizure attacks at least once were excluded from the study. After the initial recording of patient information, patients were followed up for 6 months and the response to their treatment was recorded. The response to good treatment was defined as the absence of maximum seizure with two drugs during follow up.
This study was conducted among 128 children with seizure. 72 patients (56.3%) were boys. The age of the first seizure was under 2 years old in 90 patients (70.3%). History of febrile convulsion, family history of seizure and history of asphyxia was found in 16 patients (12.5%), 41 patients (32%), 27 (21.1%), respectively. IQ was decreased in 79 patients (61.7%). Seizure etiology was idiopathic in 90 patients (70.3%), and the number of seizures was 1 - 2 in 36 patients (28.1%). 57 patients (44.5%) had cerebral lesion according to CT scan or MRI, and EEG was normal in 21 patients (16.4%) and abnormal in 101 patients (78.9%). In 6-month follow-up, 40 patients (31.3%) responded well to the treatment and 88 patients (68.8%) responded poorly to the treatment. The results of multivariate analysis demonstrated that history of asphyxia (OR = 6.82), neonatal jaundice (OR = 2.81) and abnormal EEG (OR = 0.19) were effective factors in response to treatment.
Results of univariate and multivariate analysis indicated that abnormal EEG is an effective factor in treatment response in the children studied.

objectiveGaucher disease is the most common of the inborn error of metabolic disorder that known as lipid storage disorders. This disorder is caused by a deficiency of the enzyme glucocerebrosidase. .There for , glucocerebroside accumulate in multiple organs. Symptoms may begin at any age ( in early life until the adulthood )and include skeletal disorders, organomegally , and cytopenia. Gaucher disease is classified into three types. type 1 is the most common form and named non neuropatic form . Type 2 is named acute infantile neuropathic form,because severe neurological symptoms are apparent by 3 months of age. Type 3 is named chronic neuropathic form. Videlicet,this disorder is classified on the presence or absence of neurological symptoms .
Material and methodsIn this study , We assesed neurological symptoms in our GD1patients and compared them with GD3 patients.
Three patients with GD3 and eight patients with GD1 entered in this study.
ResultWe found in this study that patients with GD1 had neurological problems including: Cognitive impairment,developmental disability ,behavioral disorder, microcephaly ,increased DTR,too.
Though,some symptoms including :seizure,supranuclear gaze palsy, cerebellar sign and ataxia only excist in GD3 patients .
conclusionIn previous studies has mentioned that distinction between type 1 and 3 is by neurological symptoms but we found some neurological signs are seen in Type 1,too. Although, the neurological symptoms are most severe in type 3 and some symtoms only detected in GD3 . So, generally neurological symptoms alone can not differentiate the types of gauche disease.

Wharton`s jelly-derived mesenchymal stem cells (WJ-MSCs), have a high proliferation valency and they do not produce teratogen or carcinogen after subsequent transplantation. They are known as regenerative medicine. Thus more research is needed on the isolation and characterization of mesenchymal stem cells. In this experimental study, we obtained Wharton's jelly tissues from mothers during normal vaginal delivery, after obtaining their informed consent. Mesenchymal stem cells were isolated from cultured Wharton`s jelly, cultured, and were then examined for their proliferation, immunophenotypes, and differentiation capacities. The immunophenotypes of WJ-MSCs were analyzed by flow cytometry. Differentiation was performed resulting in osteogenic, chondrogenic and adipogenic cells. WJ-MSCs formed a homogenous monolayer of adherent spindle-shaped cells. Our results showed the high capacity of the proliferation of WJ-MSCs. Immunophenotyping further confirmed the purity of the isolated cells; their surface antigen expression showed the phenotypical properties like those of WJ-MSCs. The expanded cells were positive for CD 90, CD105, and CD44; they were negative for CD34 and HLA-DR surface markers. The cells had the adipocytic, osteocytic and chondrogenic differentiation capacity. The isolation and characterization of WJ-MSCs with high purity had been conducted, and the results were obtained in a short span. The present study has revealed the feasibility of the culture medium with high glucose and 15% FBS in isolation and proliferation of WJ-MSCs. When Wharton`s jelly pieces were put in the dry bottom of the flask, very effective separation of the MSCs was achieved.

We aimed to present the ophthalmic manifestations of neuro‑metabolic disorders.
Patients who were diagnosed with neuro‑metabolic disorders in the Neurology Department of Mofid Pediatric Hospital in Tehran, Iran, between 2004 and 2014 were included in this study. Disorders were confirmed using clinical findings, neuroimaging, laboratory data, and genomic analyses. All enrolled patients were assessed for ophthalmological abnormalities.
A total of 213 patients with 34 different neuro‑metabolic disorders were included. Ophthalmological abnormalities were observed in 33.5% of patients. Abnormal findings in the anterior segment included Kayser–Fleischer rings, congenital or secondary cataracts, and lens dislocation into the anterior chamber. Posterior segment (i.e., retina, vitreous body, and optic nerve) evaluation revealed retinitis pigmentosa, cherry‑red spots, and optic atrophy. In addition, strabismus, nystagmus, and lack of fixation were noted during external examination.
Ophthalmological examination and assessment is essential in patients that may exhibit neuro‑metabolic disorders.

Anticonvulsant drugs can cause various forms of skin drug reactions, ranging from exanthema to severe blistering reactions. An association between HLA-B*1502 allele and severe skin reactions have been reported.
Fifteen patients with severe skin reactions following treatment with anticonvulsant drugs (Carbamazepine, lamotrigine, phenobarbital, primidone) and 15 controls (age-matched epileptic patients taking similar anticonvulsants without drug eruption) were included. They were referred to Mofid Children’s Hospital in Tehran, Iran, between Jan 2012 to Jan 2014. Genomic DNA was extracted from peripheral blood of all patients and HLA- B*1502 genotype was detected by real-time PCR.
None of the patients was positive for HLA- B*1502, but two patients in control group had positive HLA- B*1502.
The HLA- B*1502 is not correlated with severe anticonvulsant drugs -induced skin reactions in Iranian children.

We aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones.
The patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests. The patients who completed our inclusion criteria as neuro metabolic disorders were evaluated in terms of metabolic and genetic study in referral lab.
Overall, 213 patients with neurometabolic disorders were diagnosed. 54.3% of patients were male. The average age of patients was 41 +46.1 months. 71.4% of parent’s patients had consanguinity of marriages. Eighty seven percent of patients had developmental delay (or/and) regression. 55.5% of them had different type of seizures. Overall, 213 patients with 34 different neurometabolic disorders were diagnosed and classified in the 7 sub classes, consisting of:1- organic acidemia and aminoacidopathy (122 patients), 2-storage disease (37 patients) 3- eukodystrophy (27 patients), other classes consisted: lipid oxidation disorders, urea cycle disorders, progressive myoclonic epilepsy; and peroxizomal disorders (27 patients).
Conclusion; In patients with developmental delay or regression, with or without seizure, abnormal neurologic exam along with positive family history of similar disorder or relative parents, abnormal brain imaging with specific patterns, neurometabolic disorders should be considered as one of the important treatable diseases.

Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder. The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder was confirmed by neuroimaging and clinical findings along with genetic and neurometabolic assessment at Reference Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of populous family with adrenoleukodystrophy. All of the patients were one populous family with high rate of consanguineous: marriages. This disorder was confirmed by genetic assessment, VLCFA and brain MRI.c.253_254insC, p.R85Pfs112* was found in heterozygote state and the VLCFA assessment showed the typical pattern for adrenoleukodystrophy/ adrenomyeloneuropathy. This diagnosis was in agreement with the family history and the clinical history of the patient. Since there have been a number of cases in patient’s family in the past, so intensive follow-up on the family especially detection the female members of the family of childbearing age was recommended. The amount of C-26, C24/C22 and C26/C22 was elevated. All patients with the same genotype had wide ranges of clinical presentation. Early diagnose of this disease might help us for early intervention and prenatal diagnosis for the disease in next siblings.

Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency.Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirmed by clinical, EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings along with neurometabolic and genetic assessment from reference laboratory in Iran. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 18 patients with metachromatic leukodystrophy.From 18 patients, 80% were offspring from consanguineous marriages. A family history of metachromatic leukodystrophy disease was positive for four patients. Twelve patients had late infantile form of this disorder and six patients had juvenile form. A history of tonic type seizure was positive in 20% of the patients and tonic spasm was confirmed with clinical information. Electromyographgraphy (EMG) in 96% of patients was abnormal with demyelinating sensorimotor neuropathy pattern. MRI in all patients showed the leukodystrophic pattern as arcuate fibers sparing and subcortical rim in white matter and periventricular involvement. Our diagnosis was confirmed by EMG-NCV findings with sensorimotor neuropathy pattern and the assessment of arylsulfatase A enzyme function. MLD is an inheritance metabolic disorder, which was confirmed by the assessment of arylsulfatase A enzyme function, peripheral blood leukocyte that assessed in a referral laboratory in Iran.

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

Canavan’s disease is a lethal illness caused by a single gene mutation that is inherited as an autosomal recessive pattern. It has many different clinical features especially in the non-Ashkenazi Jewish population. 45 patients were referred to the Pediatric Neurology Department of Mofid Children’s Hospital in Tehran-Iran from 2010–2014 with a chief complaint of neuro developmental delays, seizures, and neuroimaging findings of leukodystrophy were included in this study. Magnetic Resonance Spectrometry (MRS) and neuro metabolic assessment from a referral laboratory in Germany confirmed that 17 patients had Canavan’s disease. Visual impairment, seizure, hypotonia, neuro developmental arrest, and macrocephaly were the most consistent findings in the patients in this study. Assessments of neuro developmental status revealed that 13 (76%) patients had neuro developmental delays and 4 (24%) patients had normal neuro development until 18 months of age and then their neuro developmental milestones regressed. In this study, 100% of cases had macrocephalia and 76% of these patients had visual impairment. A history of seizures was positive in 8 (47%) patients and began around 3 months of age with the most common type of seizure was tonic spasm. EEGs were abnormal in all epileptic patients. In ten of the infantile group, we did not detect elevated level of N-acetylaspartic acid (NAA) in serum and urine. However, the MRS showed typical findings for Canavan’s disease (peaks of N-acetylaspartic acid). We suggest using MRS to detect N-acetylaspartic acid as an acceptable method for the diagnosis of Canavan’s disease in infants even with normal serum and urine N-acetylaspartic acid levels.

GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay–Sachs and Sandhoff disease). These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creatinghexosaminidases A، B، and AB. Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children’s Hospital in Tehran، Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A، B، and ABin reference to Wagnester Laboratory in Germany. We assessed age، gender، past medical history، developmental status، clinical manifestations، and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease. 83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% hadseizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures، pneumonia aspiration، or swallowingdisorders. Neuro-imaging findings included bilateral thalamic involvement، brain atrophy، and hypo myelination in near half of our patients (48%). According to the results of this study، we suggest that cherry-red spots، hyperacusis، refractory seizures، and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.

Phenylketonuria is one of the most common metabolic disorders and the first known cause of mental retardation in pediatrics. As Screening for phenylketonuria (PKU) is not a routine neurometabolic screening test for neonates in Iran, many PKU cases may be diagnosed after developing the clinical symptoms. One of the findings of PKU is myelination disorders, which is seen as hypersignal regions in T2-weighted (T2W) and FLAIR sequences of brain MRI. The aim of our study was to assess MRI changes in PKU patients referred to Mofid Children’s Hospital, 2010-2011.We studied all PKU cases referred to our clinic as a referral neurometabolic center in Iran for brain MRI and assessed the phenylalanine level at the time of Imaging. The mean phenylalanine level (in one year), clinical manifestations,and MRI pattern based on Thompson scoring, were evaluated.The mean age of our study group was 155±99 months and the mean diagnosis age was 37±27.85 months. There were 15 patients with positive and 15 with negative family history. The mean phenylalanine level at the time of imaging was 9.75±6.28 and the mean 1 year phenylalanine level was 10.28±4.82. Seventy percent of our patients had MRI involvement, in whom 20% showed atrophic changes, in addition to white matter involvement. Based on modified Thompson scoring, the score for our study group was 4.84.The maximum involvement in MRI was in occipital region, followed by parietal, frontal, and temporal zones. There was not any correlation between MRI score and patients’ age. But we found significant relationship between MRI score and the age of regimen cessation. No correlation was seen between phenylalanine level (at the time of Imaging) and MRI score. But there was a relationship between mean 1 year phenylalanine level and MRI score.According to the results of this study, brain MRI and white matter involvement can be used for evaluation of long-term control of phenylalanine level in PKU cases.

Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay.The patients diagnosed as having propionic acidemia in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2002 and 2012 were include in our study. This disorder was confirmed by clinical manifestations, neuroimaging findings, and neurometabolic assessment in the reference laboratory in Germany. Our study was conducted to define the sex, age, gender, past medical history, developmental status, clinical findings, and neuroimaging manifestations in 10 patients with propionic acidemia. Seventy percent of patients were offspring of consanguineous marriages. In this study, only one patient had microcephaly at birth, but at detection time, 30% of patients had head circumference and weight below the 3rd percentile. The patients were followed for approximately 5 years and this follow-up showed that the patients with early diagnosis had a more favorable clinical response.Neuroimaging findings included brain atrophy, white matter and globus pallidus involvement.Finally we suggest that early diagnosis and treatment have an important role in the prevention of disease progression.