Pearson Syndrome and Neuropathy, Ataxia and Retinitis Pigmentosa (NARP)

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Leukodystrophies with Intracranial Calcifications

How to Cite This Article: Mahvelati Shamsabadi F. Leukodystrophies with Intracranial Calcifications. Iran J Child Neurol. Autumn 2014;8;4(Suppl.1):16-17.Pls see pdf

Assessment of Cognitive and Motor Development in 150 Children with Refractory Epilepsy

 ObjectiveNeuropsychological impairment is an important co-morbidity of chronic epilepsy. The aim of this study was to determine the state of the cognitive and motor development of patients with refractory epilepsy.Materials & Methods We studied 150 consecutive children with epilepsy who were referred to Mofid Children Hospital, a third level public referral University Hospital in Tehran, Iran, from October 2007 to October 2008. Refractory epilepsy was defined as therapeutic failure of three antiepileptic drugs which were used appropriately.Data regarding sex, age, age at which the first seizure occurred, microcphaly, muscle tonicity, EEG findings, kind of treatment for controlling seizures and cognitive and motor development delay were collected from medical records.Development delay was defined as delay in acquiring cognitive ability and motor skills for age according to the Denver Scale II.Results Of 150 patients 72% were younger than 2 years old and 56.7% were male. About 35.3% were microcephalic while 76% had normal muscular tonicity.Only 2.7% had normal EEGs. About 37.3% showed a good response to anticonvulsive drugs and became seizure free, 13.3% showed a relative response to anticonvulsants but 49.3% did not respond. In the present study, 68% had cognitive developmental delay and 60.7% suffering motor delay. There was a significant difference in response to treatment between patients with cognitive and motor development delay.Conclusion Cognitive developmental delay was more frequent in patients with refractory epilepsy, suggesting that early cognitive screening and introduvtion of rehabilitation programs are necessary for patients with refractory epilepsy.

Effect of growth hormone on muscle strength, tone and mobility of children with Prader-Willi syndrome

ObjectivePrader-Willi Syndrome (PWS) is a genetic syndrome presenting with severe hypotonia and decreased agility. Growth Hormone (GH), which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. The aim ofthis study was to find the effects of growth hormone on agility and strength of these patients.Material & MethodsIn a prospective randomized controlled clinical trial in an out-patient pediatric endocrine clinic in Tehran, 21 PWS children (12 boys and 9 girls, 4 to 9 years old) were divided into either GH-treated or control groups and followed for two years. Agility run, sit ups, weight lifting, and inspiratory and expiratory strength were considered as the main outcome measures.ResultsAll the outcome measures of the GH treated group showed a significant improvement compared to the control group.ConclusionGH causes a significant improvement in agility and strength of PWS children.Key words: Preder-willi syndrome; PWS; growth hormone;agility; strengt

Hearing Evaluation in Children with Meningitis by Auditory Brainstem Response and Otoacoustic Emissions

Objective: Meningitis is one of the most important causes of sensorineural hearing loss in childhood. Because of the critical situation of patients, proper attention is not usually paid to hearing assessment in meningitis. By early detection and medical intervention at proper time, the retadation of lingual development can be avoided. Material & Methods: The hearing function of 40 children with meningitis was evaluated at 24-72 hours after diagnosis (acute period) and 24 hours before discharging from hospital (recovery period) with auditory brainstem responses (ABR). All patients 7-14 days after discharge underwent thorough investigation by detecting otoacoustic emissions test (OAE). Findings: Using the ABR test, during the acute period, 35 (87.5%) patients had normal hearing and in 5 (12.5%) patients severe to profound sensorineural hearing loss was detected. The same results were obtained during recovery period. OAE test showed normal hearing in 37 (92.5%) patients and impaired cochlear function in 3 (7.5%) patients. Conclusion: Early detection of hearing loss in the acute and recovery period of meningitis can be made by ABR and OAE tests

Acute Inflammatory Demyelinating Polyneuropathy in Children; Clinical and Electrophysiologic Findings

Objective: The aim of this study was to evaluate the electrophysiologic findings of Guillain Barre Syndrome (GBS) in children and their relation with clinical progress of the disease. Methods: Twenty-three children with GBS were evaluated between 2005 and 2007. Electrophysiologic evaluations were performed at admission and one month later. Findings: Five patients needed respirator, 15 were bedridden, 1 developed recurrence 6 months later, and 2 experienced chronic GBS. The most common findings included: decreased amplitude of muscle action potential (CMAP) (96%), increased distal latency (74%), increased F wave latency (69%), and decreased nerve conduction velocity (NCV) (61%). Sensory nerve conduction (evaluating sural nerve) was normal in 78% of the cases. These measures did not significantly change after 1 month. Conclusion: Electrodiagnostic evaluations are helpful at the primary stages of GBS for diagnosis. Fibrillation potentials and positive sharp waves showing denervation and axonal injury are presentative of longer duration of the disease and a worse prognosis

A Comparison of Buccal Midazolam and Intravenous Diazepam for the Acute Treatment of Seizures in Children

Objective: The purpose of the present study is to compare efficacy and safety of buccal midazolam with intravenous diazepam in control of seizures in Iranian children. Methods: This is a randomized clinical trial. 92 patients with acute seizures, ranging from 6 months to 14 years were randomly assigned to receive either buccal midazolam (32 cases) or intravenous diazepam (60 cases) at the emergency department of a children's hospital. The primary outcome of this study was cessation of visible seizure activity within 5 minutes from administration of the first dosage. The second dosage was used in case the seizure remained uncontrolled 5 minutes after the first one. Findings: In the midazolam group, 22 (68.8%) patients were relieved from seizures in 10 minutes. Meanwhile, diazepam controlled the episodes of 42 (70%) patients within 10 minutes. The difference was, however, not statistically significant (P=0.9). The mean time required to control the convulsive episodes after administration of medications was not statistically significant (P=0.09). No significant side effects were observed in either group. Nevertheless, the risk of respiratory failure in intravenous diazepam is greater than in buccal midazolam. Conclusion: Buccal midazolam is as effective as and safer than intravenous diazepam in control of seizures