Gaucher disease (GD) is a rare inherited metabolic disorder and the

most common lysosomal storage disorder, caused by a deficiency in

glucocerebrosidase enzyme activity. It has been classified according

to the neurological manifestations into three types: type 1, without

neuropathic findings, type 2 with acute infantile neuropathic signs

and type 3 or chronic neuropathic form. However, report of new

variants has led to the expansion of phenotype as a clinical phenotype

of GD considered as a continuum of phenotypes. Therefore, it seems

that a new classification is needed to cover new forms of the disease.

Keywords: Gaucher disease; Neurological manifestations; Phenotypes

Objective. The intent of this study was to translate the Affordance in the Home Environment for Motor Development (AHEMD) scales (3-18 months [IS] and 18-42 month [SR] versions) into Persian, and examine its cultural adaptation and psychometric properties.

Method. A four stage process was conducted: translation of the questionnaires (use of International Quality of Life Assessment protocol), cultural adaptation, and determination of its psychometric properties. Qualitative judgments were provided by 11 experts and 30 mothers for interview sessions. Quantitative data were gathered using 212 mothers.

Results. For the IS version, validity values ranged from 0.63 to 0.95. Intraclass correlation coefficient for reliability of total score was 0.87 (0.83-0.97), and was Cronbach’s alpha (0.75). Validity for the AHEMD-SR ranged from 0.63 to 0.90, with reliability for total score at 0.98 (0.98-0.99, ICC). Cronbach’s alpha for this version was 0.84. Correlations with SES were significant for both scales: IS (r = 0.40) and AHEMD-SR (r = 0.42).

Conclusion. Both translated versions of the AHEMD were determined to be valid and reliable assessments of the home environment of Iranian young children.

Objectives: Cyclic vomiting syndrome (CVS) is a chronic functional gastrointestinal disorder with no certain treatment. We aimed to compare the efficacy of amitriptyline and topiramate on prophylactic therapy of CVS.

Materials and Methods: This is a randomized clinical trial conducted during 2016 in Isfahan, Iran. The inclusion criteria were CVS patients (based on Rome III) aging 3-15 years with normal physical examination, no metabolic disorder, and no gastrointestinal obstruction or renal impairment. Recruited patients were divided into two groups of amitriptyline (1 mg/kg/daily) and topiramate (1-2mg/kg/daily) and were followed 3-months. The outcome was evaluated by comparing severity of attacks (monthly frequency and duration of attacks) before and after intervention.

Results: Thirty-six children entered each group and two patients left the amitriptyline group. Patients and disease characteristics were similar between groups before intervention (P-value>0.05). The frequency of attacks (standard deviation) after intervention in amitriptyline and topiramate group were 0.91 (0.40) and 1.07 (0.55), respectively (P-value=0.368) and the duration of attacks (SD) after intervention were 3.43 (2.46) and 4.90 (3.03), respectively (P-value=0.017). Twenty-three patients (68%) in amitriptyline group and 14 patients (39%) in topiramate group stopped having attacks after intervention (P-value=0.016).

Conclusion: Amitriptyline can be considered as the better choice for CVS therapy compared to topiramate considering the high response rate of patients to this drug.

Objective:

Delayed umbilical cord clamping (DCC) increases blood transfer to newborns. Hence we investigated the effect of the timing of DCC on hemoglobin levels, neonatal outcomes and developmental status in infants at four months old

.

Materials & Methods:

This clinical trial examined infants born to 400 pregnant women immediately upon birth and at the age of four months. The newborns were randomly assigned to either the intervention group with a 90-120-second delay in umbilical cord clamping or the control group with a clamping delay of below 60 seconds, and blood samples were taken from their umbilical cords. The Ages and Stages Questionnaire was used to evaluate the infants’ developmental status.

Results:

Umbilical cord hemoglobin was found to be significantly higher in the intervention group compared to in the controls (P=0/024). No significant differences were observed between the two groups in terms of neonatal complications except neonatal jaundice was significantly more common in the intervention group (P=0/025), although the need for phototherapy was not different between the groups. Overall, no significant differences were observed between the two groups in terms of developmental status at four months old; however, the infants had better problem-solving skills in the delayed umbilical cord clamping group (P=0/015).

Conclusion:

The results obtained show that, despite elevating hemoglobin, delayed umbilical cord clamping but has no effects on infant development except in terms of problem-solving skills. Further studies are recommended on the effects of delayed umbilical cord clamping on infant development.

Objective: we aimed to investigate risk factors of FSE in children.

Materials and methods: This is an analytic case control study which was conducted on all patients  records with first FS admitted to 17 shahrivar hospital during 2007-2014, Rasht. cases were children aged 6 to 60 months with febrile status epilepticus and controls were children with complex and simple febrile seizures. Data were gathered by a checklist including age, sex, type of milk consuming during first year, temperature, the interval  between fever and seizure, family history of epilepsy and febrile seizure, and prematurity.  Data were reported by descriptive statistics (number, percent, mean, standard deviation) and analyzed by chi square in SPSS 19.

Results: In this study, 756 patients with FS participated including 39 patients with FSE, 194 complex febrile seizure (CFC) and 523 simple febrile seizure(SFC).Most of the patients (57.8%) experienced seizure with low grade fever (<39 c).

 The mean age in SFC group was significantly higher than FSE patients. Significant relation was noted between groups regarding body temperature during seizure (p=0.006), family history of febrile seizure (0.029), family history of epilepsy (p=0.042) and the premature birth (p=0.023)

Significant relation was noted between FSE and CFC groups regarding body temperature during seizure (p=0.004), family history of febrile seizure (0.011), family history of epilepsy (p=0.037), and the premature birth (p=0.025) between FSE and CFC groups.

In Conclusion: According to results, It seems that further investigation which assess these factors can be recommended.

Objectives: Stroke is a sudden blockage or rupture of brain vessels resulting neural defect or impairment. This study aimed to investigate the incidence and causes of stroke in hospitalized children (Tehran-Iran, 2008-13). Methods: One month to 15 years old admitted children due to stroke entered this case series study. Diagnosis was confirmed with brain imaging. Participants' demographic data, potential risk factors and neuroimaging findings were obtained from Hospital Reporting System. Recorded data were studied and considered regarding to the incidence of stroke and its causes. Indeed we investigated cardiological causes as well as different items related hematological disorders. Results: Of 20000 admitted subjects in Imam Hospital during 5 years, stroke was diagnosed in 15 cases. The incidence among the population study was 0.75 per 100000 children. Stroke was more frequent in males than female ( ). The most common age of stroke was 4-6 years and mean age of stroke was 58.8 months equal to 4.9 years. The most frequent stroke was hemorrhagic stroke (26%), followed by vascular (20%) and coagulopathy disorders (20%). Conclusion: The incidence of stroke in children was 0.75 per 100000. Hemorrhagic stroke due to major trauma, coagulopathy and vasculopathy were observed as most frequent causes that necessitate implementing some strategies for prevention, earlier diagnosis and treatment.

Objectives: Recent studies have shown an association between IVH and in-vitro fertilization (IVF) treatment. Objectives: The purpose of our study was to compare the level of significance of risk factors related IVH between preterm infants born after IVF and non-IVF conceptions. Material and Methods; a historical cohort study was done at 4 Iranian Hospitals in 2013-2014. Based on medical records 155 preterm newborns were divided into case (IVF) and control (normal conception) groups. Both groups' demographic data were extracted and recorded. The incidence of IVH and its' grades were compared between case and control groups. Significant related risk factors were also considered. Results: With regard to demographic characteristics, no differences were observed between 2 groups except for gestational age and mode of delivery (p<.05). The incidence of IVH especially grade II and III were significantly higher in the case group (P = 0.003). Results showed no correlations between GA, birth weight and number of gestations with the incidence of IVH in the case group (0.059, 0.85 and 0.49, respectively).On the other hand among GA, birth weight and number of gestations; multi gestations (p value=0.0001) was an effective risk factor for IVH occurrence in the controls. Conclusion; Results showed that the incidence of IVH in the IVF group was significantly higher than in the non-IVF group. IVF as an independent risk factor may cause high-grade IVH; however, in the controls, multi gestational pregnancy (p value=0.0001) was an effective risk factor for IVH occurrence. 

 Objectives: Sometimes there is no hearing impairment, but it is possible to have an auditory disorder. This is known as a central auditory processing disorder (CAPD). Verbal dichotic tasks are useful tools to evaluate CAPD, but there is almost no tool to assess this for Azeri people in their native language. The aim of this study is to evaluate central auditory processing of Azeri participants by Azeri dichotic digit test (ADDT).

Materials & Methods: Participants were 52 normal Iranian Azeri students (mean age 23.27± 4.71 ; 26 female, 26 male).They were chosen by convenient sampling. ADDT was constructed and administered in free recall format along with a Persian dichotic digit test (PDDT). After two to four weeks, reliability was performed.

Results: The mean of the right ear score of PDDT and ADDT were 98.90 and 99.09 percent, respectively. ADDT was reliable in almost all scores. There was no significant difference in performance between men and women in any score of both tests (p>0.05). The results showed a significant difference between both ears’ scores in PDDT (p<0.02) as well as in ADDT (p=0.00). The right ear advantage were seen in both tests.

Conclusions: All participants performed significantly better on numbers presented in the right ear than the left ear in both tests. Central auditory processing of Azeri participants for Azeri is similar to that for Persian.

Background: People with epilepsy generally encounter misconceptions and negative attitudes about different aspects of the disease. They are also prone to physical injuries during seizures. Lack of awareness about first-aid measures results in taking inappropriate first-aid measures. The objective of this survey was to determine public awareness, attitudes, and first-aid measures about epilepsy in Tehran.

Methods: This population-based cross-sectional survey was conducted during December 2016 to May 2017 throughout Tehran. Random stratified cluster sampling was used. Data were collected through interviews using a questionnaire. The awareness section included general awareness, causes, symptoms, seizure triggers, first-aid measures, and recommended treatments. The Likert scale was used for the attitudes section which included 20 statements. The answers about first-aid measures were categorized as helpful, or harmful.

Results: A total of 833 adults participated in the survey. The level of total awareness score of 41 (4.9%) participants was very good, 194 (23.3%) good, 255 (30.6%) fair, 210 (25.2%) low, and 133(16.0%) very low. The mean (SD) score about general awareness was 4.6 (3.0), range=0 to 11; causes 5.8 (3.4), range=0 to 13; symptoms of seizures 7.0 (4.0), range=0 to 13; first-aid measures 7.5 (3.4), range=0 to 14. Among all participants, 260 (31.2%),  named at least one superstitious cause for epilepsy. Attitudes were generally positive except for marriage and having kids. The level of first-aid measures score of 74(42.5) was very good, 79(45.4) good, and 21(12.1) low.

Conclusion: The awareness of people of Tehran about epilepsy was insufficient, attitudes were generally positive but rather conservative, and first-aid measures at the last witnessed seizure were fairly helpful.

Background: Cerebellar acute ischemic stroke (AIS) can be a complication of minor head trauma, vertebral artery dissection, vasospasm or systemic hypoperfusion. Computed Tomography (CT) scan usually is negative few hours after acute infarction. Magnetic resonance imaging (MRI) is superior to CT scan for posterior fossa lesions and also in acute phase of cerebellar stroke specially in children.

Case summary: The patient was a 9 years Old girl presenting with sudden onset of headache and recurrent vomiting, ataxia and history of 3 consecutive days of fever and malaise. In the report of MRI there were abnormal low T1 and high T2 signal intensity in left cerebellar hemisphere involving superior and middle cerebellar peduncles. After 4 days of admission, the patient became drowsy, symptoms progressed and transfered to the pediatric intensive care unit (PICU). The patient underwent hemispherectomy surgery of the left cerebellar hemisphere because of acute obstructive hydrocephaly. After 5 months of occupational therapy the force of her extremities were normal and the ataxia completely disappeared.

Conclusion: Childhood acute ischemic stroke although rare can happen with cerebellar involvement. Because in our patient the first brain CT scan was nearly normal and a false negative rate for initial computed tomography (CT) scanning of 60-80 percent also contributes to missed and delayed diagnosis of childhood AIS, we conclude that for every child presenting with acute ataxia without identified cause in addition to CT scan, MRI also being ordered and from the beginning beside other causes, stroke be contemplated as a cause of ataxia.

Abstract:

Lafora progressive myoclonus epilepsy (Lafora disease, LD) is a fatal autosomal recessive neurodegenerative disorder (with an onset in teenage years in previously normal adolescents). This paper represents a view of a patient diagnosed with Lafora progressive myoclonus epilepsy, over a course of seven years. A description of the initial manifestation of symptoms, doctors' attempts to combat the symptoms with drug treatment, further attempts towards reaching the correct diagnosis, the final confirmation of the Lafora diagnosis (mutation in the NHLRC1 gene), and the current state of the patient is presented. The absence of a positive family history, the lack of staff specialized in dealing with this or similar pathology, and the diagnostic inability to characterize this type of disorder in Bosnia and Herzegovina have led to a fair delay in diagnosing and beginning of an adequate pharmacological treatment. Overall, recent identification of LD cases in Bosnia and Herzegovina warrants an establishment of a Centre for Genetic Testing in order to ensure more humane counseling of an entire family whose family member(s) might be diagnosed with this devastating and currently an incurable disorder.

Keywords: Progressive myoclonus epilepsy; Lafora disease; NHLRC1 mutation

Varicella infection in children is a common self-limited illness with neurological complications in less than 0.1% of cases. Longitudinally extensive transverse myelitis (LETM) is uncommon in children following infection with varicella zoster virus. We describe a case of 13-year immunocompetent girl with LETM following varicella infection that had shown a dramatic clinical response to a combination of acyclovir and pulse steroids.  

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