سال:1392 | دوره: | شماره: |تعداد مقالات:11

The approach to a child who has experienced a first unprovoked generalized tonic-clonic seizure is challenging and at the same time controversial. How to establish the diagnosis, ways and means of investigation and whether treatment is appropriate, are different aspects of this subject. In this writing the above mentioned matters are discussed.

Paraneoplastic neurological syndromes (PNS) were initially defined as neurological syndromes with unknown etiology that often associate with cancer. This broad definition may lead to misconception that any neurological syndrome, which coincides with a cancer might be considered as PNS. In the last two decades it has been suggested that PNSs are mainly immune-mediated. The detection of onconeural antibodies has been very helpful in indicating the existence of a tumor and defining a given neurological syndrome as paraneoplastic. However, PNS may occur without onconeural antibodies, and the antibodies can occur with no neurological syndrome, thus, their presence should not be the only condition to define a neurological syndrome as paraneoplastic. Diagnosis of paraneoplastic syndromes in children may result in early detection and treatment of the pediatric cancer and can reduce the neurological damage that is the major source of morbidity in children with successfully treated tumors. This study reviews the presenting symptoms, immunology, and management options for paraneoplastic syndromes, focusing on those most commonly reported in children.

Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance.Materials&Methods Four unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT–PCR (Q-RT-PCR), and mutation identification was performed by sequencing of complementary DNA.Results COL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mutation in exon 12 of COL6A2, while another patient had a large heterozygous deletion in exon 5-8 of COL6A2. The two other affected sibs had homozygote mutation in exon 24 of COL6A2, and the last one was homozygote in COL6A1.Conclusion In this study, we found out variability in clinical findings and genetic inheritance among UCMD patients, so that the patient with complete absence of COLVI was severely affected and had a large heterozygous deletion in COL6A2. In contrast, the patients with homozygous deletion had mild to moderate decrease in the secretion of COL VI and were mildly to moderately affect.

Objective According to the basic role of drugs side effects in selection of an appropriate drug, patient compliance and the quality of life in epileptic patients, and forasmuch as new dugs with unknown side effect have been introduced, necessity of this research is explained. This study was conducted to evaluate the incidence and clinical characteristics of anti-epileptic drug (AED) related adverse reactions in children.Material&Methods In this descriptive study, children less than 14 years old with AED side effects referred to the Children’s Medical Center and Mofid Childeren’s Hospital (Tehran, Iran) were evaluated during 2010-2012. The informations were: sex, age, and incriminating drug, type of drug side effect, incubation period, history of drug usage, and patient and family allergy history. Exclusive criterions were age more than 14 years old and reactions due to reasons other than AEDs.Results A total of 70 patients with AED reaction were enrolled in this study. They included 26 (37%) females and 44 (63%) males. The maximum rate of incidence was seen at age less than 5 years old. All the patients had cutaneous eruptions that the most common cutaneous drug eruption was maculopapular rash. The most common culprit was phenobarbital (70%) and the least common was lamotrigine (1.4%).Conclusion In this study, we found higher rates of drug rash in patients treated with aromatic AEDs and lower rates with non-aromatic AEDs. Various endogenous and environmental factors may influence the propensity to develop these reactions.

Objective Head circumference is a valuable index of brain growth and its disturbances can indicate different disorders of nervous system. Abnormal increased head circumference (macrocephaly) is common and observed in about 2% of infants. In this study, the causes and clinical types of abnormal increase in infants’ head circumference were investigated in Kashan, Iran.Materials&Methods this cross-sectional study was performed on 90 infants less than 2 years of age with abnormal increase in head circumference in Kashan, during 2009- 2011. The data were collected by history taking, physical examination, growth chart, and imaging.Results 65 (72%) cases out of 90 infants were male and 25 (28%) cases were female. Fifty-three (58.8%) cases had familial megalencephaly, 30 (33.4%) had hydrocephalus, and other causes were observed in 7 (7.8%) cases. Eighty-three percent of Infants with familial megalencephaly and 50% with hydrocephalus had normal fontanels. In 90.6% of cases with familial megalencephaly, family history for large head was positive. Motor development was normal in 100% of cases with familial megalencephaly and 76.7% of hydrocephalic infants.Conclusion Familial megalencephaly was the most common cause of macrocephaly in the studied infants, and most of them had normal physical examination and development, so, parental head circumferences should be considered in the interpretation of infant’s head circumference and in cases of abnormal physical examination or development, other diagnostic modalities, including brain imaging should be done.

There is a major problem about the incidence, diagnosis, and differentiation of cerebral salt wasting syndrome (CSWS) and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in patients with acute central nervous system (CNS) disorders. According to rare reports of these cases, this study was performed in children with acute CNS disorders for diagnosis of CSWS versus SIADH.Materials&Methods this prospective study was done on children with acute CNS disorders. The definition of CSWS was hyponatremia (serum sodium£130 mEq/L), urine volume output³3 ml/kg/hr, urine specific gravity³1020 and urinary sodium concentration³100 mEq/L. Also, patients with hyponatremia (serum sodium£130 mEq/L), urine output<3 ml/kg/hr, urine specific gravity³1020, and urinary sodium concentration>20 mEq/L were considered to have SIADH.Results out of 102 patients with acute CNS disorders, 62 (60.8%) children were male with mean age of 60.47±42.39 months. Among nine children with hyponatremia (serum sodium³30 mEq/L), 4 children had CSWS and 3 patients had SIADH.In 2 cases, the cause of hyponatremia was not determined. The mean day of hyponatremia after admission was 5.11±3.31 days. It was 5.25±2.75 and 5.66±7.23 days in children with CSWS and SIADH, respectively. Also, the urine sodium (mEq/L) was 190.5±73.3 and 58.7±43.8 in patients with CSWS and SIADH, respectively.Conclusion According to the results of this study, the incidence of CSWS was more than SIADH in children with acute CNS disorders. So, more attention is needed to differentiate CSWS versus SIADH in order to their different management.

Objective we aimed to determine the clinical and electroencephalographic (EEG) characteristics of the patients with West syndrome (WS) in south Iran.Materials&Methods In this retrospective study, all patients with a clinical diagnosis of WS were recruited in the outpatient epilepsy clinic at Shiraz University of Medical Sciences between September 2008 and May 2012. Age, gender, age at seizure onset, seizure type (s), epilepsy risk factors, EEG and imaging studies of all patients were registered routinely.Results During the study period, 2500 patients with epilepsy were registered at our epilepsy clinic. Thirty-two patients (1.3%) were diagnosed to have WS. Age of onset (mean±standard deviation) was 4.99±3.06 months. Sixteen patients were male and 16 were female. Nine (28.1%) were reported to have two or more seizure types and 23 (71.8%) had one seizure type (epileptic spasms). At referral, no developmental delay was detected in two patients and in the rest, a mild to severe delay was noted. Electroencephalography showed typical hypsarrhythmia in 59.4% of our patients and modified hypsarrhythmia or atypical presentations were seen in 40.6%. Two patients had pyridoxine (B6)-dependent seizures, confirmed by oral B6 trial.Conclusion Variants of the classical triad of WS including other seizure types, atypical EEG findings, and normal psychomotor function at the beginning could be observed in some patients. Rarely, treatable genetic disorders (e.g., pyridoxine-dependent seizures) should be considered in those in whom no other diagnosis is evident.

Objective:The World Health Organization (WHO) estimates that 4 million children are born with asphyxia every year, of which 1 million die and an equal number survive with severe neurologic sequelae. The purpose of this study was to identify the risk factors of birth asphyxia and the hospital outcome of affected neonates.Materials&Methods:This study was a prospective case-control study on term neonates in a tertiary hospital in Yaounde, with an Apgar score of<7 at the 5th minute as the case group, that were matched with neonates with an Apgar score of³7 at the 5th minute as control group. Statistical analysis of relevant variables of the mother and neonates was carried out to determine the significant risk factors.Results: the prevalence of neonatal asphyxia was 80.5 per 1000 live births. Statistically significant risk factors were the single matrimonial status, place of antenatal visits, malaria, pre-eclampsia/eclampsia, prolonged labor, arrest of labour, prolonged rupture of membranes, and non-cephalic presentation. Hospital mortality was 6.7%, which 12.2% of them had neurologic deficits and/or abnormal transfontanellar ultrasound/electroencephalogram on discharge, and 81.1% had a satisfactory outcome.Conclusion: The incidence of birth asphyxia in this study was 80.5% per1000 live birth with a mortality of 6.7%. Antepartum risk factors were: place of antenatal visit, malaria during pregnancy, and preeclampsia/eclampsia. Whereas prolonged labor, stationary labor, and term prolonged rupture of membranes were intrapartum risk faktors. Preventive measures during prenatal visits through informing and communicating with pregnant women should be reinforced.

Neurological manifestations of neonatal disorders have various causes, among them neonatal tetanus, albeit rare, is a potentially fatal and preventable disease, which is seen in underdeveloped and developing countries. Although the disease has been eradicated from I.R. Iran, pregnant women immigrating to Iran from neighboring countries, especially from eastern border, may carry a risk of neonatal tetanus to the child due to inadequate tetanus immunization and inappropriate post-delivery care. It is then important to maintain a high index of suspicion for early diagnosis and prompt treatment, when infants present with poor feeding and abnormal behavior.Case presentation here, we report the clinical course of a newborn with neonatal tetanus, who was admitted with complaints of poor feeding and muscle rigidity, more than a decade after eradication of the disorder.

Mirror movements (MM) have been described in several pathological conditions. Their association with neural tube defects is rare, and only 5 cases have been reported in literature to date. We report on a case of MM associated with cervical myelomeningocele, and we discuss the diffusion tensor imaging findings and the underlying mechanism.

Objective Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia.Materials&Methods The patients who were diagnosed as methylmalonic acidemia in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2002 and 2012 were included in our study. The disorder was confirmed by clinical findings, neuroimaging findings, and neurometabolic and genetic assessment in reference laboratory in Germany. We assessed the age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 20 patients with methylmalonic acidemia.Results Eighty percent of the patients were offspring of consanguineous marriages. Half of the patients had Failure to thrive (FTT) due to anorexia, 85% had history of developmental delay or regression, and 20% had refractory seizure, which all of them were controlled. The patients with methylmalonic acidemia were followed for approximately 5 years and the follow-up showed that the patients with early diagnosis had a more favorable clinical response in growth index, refractory seizure, anorexia, and neurodevelopmental delay. Neuroimaging findings included brain atrophy, basal ganglia involvement (often in putamen), and periventricular leukomalacia.Conclusion According to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs.