- Volume:11 Issue: 3, 2017
- تاریخ انتشار: 1396/05/02
- تعداد عناوین: 13
Ataxia in Childhood: Epidemiological, Clinical and Neuroradiologic Features, and the Risk of RecurrencePages 1-6ObjectiveThis study was conducted on the demographic data, clinical characteristics, electroencephalography, neuroradiological findings, and their impact on the recurrence of ataxia.Materials and MethodsA 3-yr retrospective review of 49 children with ataxia in Mofid Children Hospital, Tehran, Iran was conducted from Apr 2013 to Apr 2016.
The demographic, clinical and paraclinical data were recorded in pre-prepared questionnaires. The patients were also classified in two groups of with or without recurrence and the results were compared. The diagnostic etiologies in our patients were classified as brain tumor, drug ingestion, encephalitis, postinfectious immune-mediated disorders, pseudoataxia, trauma, congenital malformations of the central nervous system and hereditary ataxias.ResultsForty-nine children with ataxia were enrolled. The mean age of the patients with a recurrence of ataxia was more than those without a recurrence.
Neurodevelopmental delay in patients with recurrence was more frequent than those without a recurrence. Abnormal findings in the neuroimaging were seen more in the patients with recurrence than those without recurrence. The most common cause of ataxia in patients with recurrence was hereditary ataxia and in patients without recurrence was a viral post infectious disorder.ConclusionAfter a mean follow-up period of 16.36 months (range: 2-37 months), 9 cases (18.4%) showed recurrence. Older age, abnormal neuroimaging, and neurodevelopmental delay should be considered as the risk factors of recurrence of ataxia in children.
Pages 7-14ObjectiveObesity is a growing epidemic and public health problem in children. The purpose of this study was to determine the effect of body mass index (BMI) on the gross motor development.Materials and MethodsIn this cross-sectional study conducted in 2012-13 in Gorgan, northern Iran, the gross motor development of 90 children 3-5 yr old in three groups of lean, normal and obese/overweight were evaluated by the ages and stages questionnaires (ASQ) and Denver 2 scale.ResultsTotally, 90 children were enrolled and their developmental level was assessed with two ASQ and Denver II indices. The mean and standard deviation of the ASQ scores of the children was 53.11± 11.06 and based on Denver index, 9 children (10%) were at developmental delay status, 15 (16.7%) in the caution conditions, and 53 (58.9%) at normal developmental status. The developmental level was lower in obese/overweight group comparing with other groups according to both Denver and ASQ and there was a significant difference between obese/overweight group and normal group based in Denver and ASQ, respectively. There was no significant difference between underweight and normal and obese and underweight groups.ConclusionOverweight and obesity could affect on the gross motor development.
Pages 15-18ObjectiveEnvironmental hazards, including poisons, can cause irreparable effects and even be fatal for children. Poisoning in children is common and serious, but often is preventable and treatable. This study aimed to evaluate the prevalence of drugs and chemical toxicity leading to apnea. In addition, we detected type of drug that induced apnea among children.Materials and MethodsIn a retrospective cross-sectional study from Apr 2012 to Apr 2013, sampled data of all hospitalized drug-induced apnea children were collected through hospital records.ResultsThe most common cause of drug toxicity was methadone syrup (74%). The mortality rate was 3.1%; all of them due to methadone poisoning.ConclusionThere was a high prevalence of apnea and poisoning of methadone in children.
Methadone poisoning should be considered in apnea.
Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with Severely Intractable SeizurePages 19-26ObjectiveTreatment of intractable seizures other than spasms is difficult and controversial.
There are few studies on efficacy of adrenocorticotropic hormone (ACTH) in treatment of patients with intractable seizure.Materials and MethodsTwenty-five patients with intractable seizure other than spasm including 14 boys and 11 girls with median age of 58 months referred to university clinics of Pediatric Neurology in Isfahan, Iran, during 2014-2015 were prospectively investigated. ACTH was administrated according to our protocol. All cases were followed regularly and assessed for response to treatment and probable side effects, 3 wk after beginning of ACTH therapy and three months after the ACTH therapy. EEG finding were recorded before and three months after the end of ACTH therapy. Statistical analysis using Freidman test and Wilcoxon signed rank test were performed in order to compare seizure frequency and EEG changes, respectively.ResultsMean A significant reduction (>80%) in seizure frequency in 11 cases (44%) and moderate reduction (50%-80%) in 7 (28%) after 3 wk of ACTH therapy.
Despite initial positive response, recurrence of seizure was observed in 7 out of 18 cases with favorable initial response within 3 months after ACTH therapy cessation. The comparison of EEG finding before and 3 months after ACTH therapy using Wilcoxon signed rank test showed significant differences.ConclusionACTH therapy may be useful in treatment of children with intractable seizures who are resistant to usual antiepileptic drugs. However further studies should be performed to determine the long-term efficacy of ACTH in treatment of intractable seizure.
Pages 27-30ObjectiveWe aimed to assess the circadian rhythm and the seasonal variation in childhood febrile seizure (FS).Materials and MethodsThis descriptive cross-sectional study was conducted retrospectively on patients records. Investigators assessed the records of patients with simple FS aged 6 to 60 months referred to Emergency Department of 17-Shahrivar Hospital, Rasht northern Iran during Jan 2010 to Jan 2013. Data were gathered by a checklist including age, sex, temperature, duration of seizure, seasonal, months, diurnal variation, and level of consciousness.ResultsTotally, 349 patients including 193 (55.3%) boys and 156 (44.7%) girls with the mean age of 22.85±18.34 months were enrolled in this study. The mean temperature of patients was 38.45±0.53°C. The mean duration of seizure was 97.91±57 sec. Awake, drowsy and slept patients were noted in 170 (48.7%), 33 (9.5%) and 146 (41.8%) cases, respectively. Most of the FS occurred in winter 118 (33.8%), afternoon 132 (37.8%) and in Jan 55 (15.8%).ConclusionBody temperature adjusted by hypothalamus affecting by circadian rhythm. FS is the most common form of seizure in childhood occurred by multifactorial issues. Otherwise, the occurrence of seizure in patients with epilepsy may be affected by the circadian rhythm. Seizures happen more frequent at a specific time in 24 h during a day.
Pages 31-36ObjectiveCystic craniopharyngiomas are considered the most common intracranial nonglial tumor in children with the tendency for cyst formations. The aim of this study was to evaluate the effect of intracystic phosphorus 32 (P32) therapies on controlling the growth of the cystic component of craniopharyngioma.Materials and MethodsThis clinical study was conducted on 47 patients with cystic craniopharyngioma from March 1998 to June 2012 at Shohada Tajrish Hospital, Tehran, Iran.
Patients were treated with stereotactic intracystic P32. The mean cyst volume was 23.5 ml, and the dose of radiation to the inner cyst wall was 250 Gy.ResultsThe overall response rate was 78.1% and the mean survival was 113.1±11months.
The survival rate at 1, 3, 5, and 10 years after p32 therapy was 91%, 77%, 73%, and 52%, respectively. There was no mortality related to the procedure and no visual or endocrinal deterioration. Visual improvement occurred in 88% of patients presented with recent deterioration due to the cyst enlargement.ConclusionIntracystic p32 therapy was an effective and almost safe procedure for the treatment of cystic component of craniopharyngioma.
Pages 37-41ObjectiveMigraine is the most common childhood recurrent primary headache syndrome and infantile colic is a common cause of infantile cry. The pathogenesis of migraine and colic has not been well established and different factors may cause them. There is an association between infantile colic and the occurrence of childhood migraine. We aimed to assess whether infantile colic could be noted as an early life expression of childhood migraine or not.Materials and MethodsThis retrospective case-control study was conducted on 5-15-year-old children in Rasht, Iran during 2015-2016. Forty-one cases were children with migraine with or without aura. Overall, 123 Control participants were children with the same age referred to the pediatric clinic for routine care. Data were gathered by a checklist including age, sex, birth weight, family history of migraine, the occurrence of colic and type of feeding during infancy. Data were reported by descriptive statistics and analyzed by Fisher exact test using SPSS ver. 19.ResultsOverall, 164 children with the mean age of 8.36± 2.53 yr were enrolled. Seventeen (41.46%) children with migraine vs. 44 (35.7%) children in control group had the positive history of infantile colic and Fisher exact test noted significant relation between migraine and colic. Thirty-three children with infantile colic (46.57%) had the positive family history of migraine, which was significantly higher than 27 children without colic (29.7%). There was a significant relation between infantile feeding and migraine.ConclusionThere is a probable relation between colic and migraine, therefore, migraine and colic as 2 pain syndromes may have a common pathophysiology and further investigations on this common pathophysiology is justified.
Pages 42-47ObjectiveNeurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children.Materials and MethodsTwo-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed. The diagnosis was based on observation, findings of EEG and history of the patient, besides evaluation of patient milestones. The result of metabolic screening with Tandem mass spectrometry was evaluated using SPSS (ver.18.0) Statistical software.ResultsTotally, 187 children with seizure, regression and/or developmental delay were evaluated by metabolic screening with tandem mass spectrometry method. The results of laboratory examination had no relationship between positive results of metabolic screening and the mentioned disease. The relations between positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful.ConclusionPositive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful.
Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen ActivatorPages 48-52Hyperhomocysteinemia can cause cerebral venous thrombosis. Recombinant tissue plasminogen activator is one of the treatment options for cerebral venous thrombosis in selected cases. We present here a 7-year-old boy with homocysteinuria with stroke. MRI of brain showed cerebral venous sinus thrombosis. We successfully treated with intravenous recombinant tissue plasminogen activator. He recovered completely without any complications.
Recombinant tissue plasminogen activator can be considered one of the treatment options in cerebral venous thrombosis in homocystinura.
Pages 53-56NiemannPick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of cholesterol in body tissues especially brain and progressive neurological symptoms. NP-C is characterized by nonspecific visceral, neurological and psychiatric manifestations in infants. The neurological involvement is typically proceeded by systemic signs (cholestatic jaundice in the neonatal period or isolated spleno-or hepatosplenomegaly in infancy or childhood).
Early detection of NPC is important so that therapy with miglustat can delay onset of neurological symptoms and prolong survival. We describe here three infants from Birjand, South Khorasan, eastern Iran in 2016 with splenomegaly and different neurological signs that diagnosis was confirmed by genetic study. In all of them, NPC-509 was pathologically increased. They also had an unreported homozygous mutation (c. 1415T>C, p.Leu472Pro) in exon 9 of the NPC1 gene. We found unreported homozygous mutation in NPC gene.
Knowing this mutation is significant to our people. Genotype-phenotype correlations for this specific mutation needs to be further studied.
Pages 57-60Autosomal recessive limb-girdle muscular dystrophies (LGMD type 2) are a group of clinically and genetically heterogeneous diseases with the main characteristics of weakness and wasting of the pelvic and shoulder girdle muscles. Among them are sarcoglycanopathies caused by mutations in at least four genes named SGCA, SGCB, SGCG and SGCD. Here we report a consanguineous Iranian family with two children affected with LGMD type 2E.
Mutation analysis revealed a novel homozygous exon 2 deletion of SGCB gene in the patients with the parents being heterozygous for this deletion. This result presents a novel underlying genetic mechanism for LGMD type 2E.
Pages 61-65Holoprosencephaly is the most common embryonic brain defect. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. Extra craniofacial manifestations are common. Vertebral segmentation defects are rarely seen with holoprosencephaly, mainly in association with holoprosencephaly diencephalic hamartoblastoma (HDH) association. A female infant was born at term by normal delivery. Birth head circumference was below the 3rd percentile. Antenatal scan had showed microcephaly as the only abnormality. Physical examination revealed microcephaly, ocular hypotelorism, left ear skin tag and short neck. MRI of the brain showed semilobar holoprosencephaly. Neck radiograph revealed gross vertebral segmentation defect involving cervical and upper thoracic vertebrae.
She had initial feeding difficulties. She showed severe global developmental delay and had underlying central diabetes insipidus. Vertebral segmentation defect is rare in holoprosencephaly.
Pages 66-69ObjectiveSayehmiri et al. recently conducted a meta-analysis to explore the relationship between zinc and copper metabolism and autism spectrum disorders (ASD).
Recent reports have elucidated a full behavioral profile of mice exposed to prenatal zinc deficiency and documented a phenotype similar to that found in autism spectrum disorders (ASD). These studies suggest that significant alterations in Zn metabolism may be an important nutritional component in the development of ASD.Materials and MethodsThe idea that prenatal zinc deficiency may be to blame is cursorily challenged. Epidemiological studies show that high-income countries with a low estimated prevalence of inadequate zinc intake report the highest prevalence of ASD.
Consistent with other reports indicating a link between air pollution and ASD, it has recently been proposed that use of the herbicide, glyphosate, in agriculture may serve as an instrumental variable in predicting later neurodevelopmental impairment via emissions of the agricultural air pollutant, nitrous oxide (N2O).ResultsWork in anesthesiology has demonstrated the neurological effects from subanesthetic doses of N2O, including its inhibition of the alpha 7 nicotinic acetylcholine receptor (α7), a receptor coupled to both central nitric oxide (NO) metabolism and peripheral anti-inflammation.ConclusionThis correspondence explores how the aforementioned nutritional phenotypes found by Sayehmiri et al. in their systematic review may be a compensatory mechanism to counter the effects (namely, α7 inhibition) of air pollutant exposures occurring during the most critical stages of fetal development.