Iranian Journal of Child Neurology (IJCN)
Volume:6 Issue: 1, Winter 2012

Alzheimer’s disease (AD) is a progressive neurodegenerative disorder and a leading cause of dementia. The AD is characterized by presence of intraneuronal tangles and extracellular plaques in the brain. The plaques are composed of dense and mostly insoluble deposits of amyloid beta peptide (Aβ), formed by sequential cleavage of the Amyloid Precursor Protein (APP), by two pathways amyloidogenic and non-amyloidogenic. Tangles are composed of paired helical fragments, which aggregate to form, microtubular protein tau. Although Aβ plaques are established to be the cause of the disease, there exist genetic factors and other pathological identifications in addition to these which are an integral part of the disease. This article gives an overview into the mechanism of APP action, genetic factors and other pathological identifications contributing to Alzheimer’s disease formation.

Duchenne muscular dystrophy (DMD) is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. No cure is yet available for DMD, but the use of steroids improves muscle strength and function. This study has been carried out to select the best steroid for the management of DMD.Materials & MethodsThis study is a single-blind, randomized clinical trial with a sample volume of 34 DMD patients. Half of these patients were treated with deflazacort (0.9 mg/kg daily) and the other half with prednisone (0.75 mg/kg daily) for a period of 18 months. The motor function score and excess body weight were registered one year after the start and also at the end of the study and compared between the two groups.ResultsDeflazacort was more effective in the improvement of motor function after one year, but there was no significant difference between the two drugs at the end of the study (18 months after start). Weight gain after one year and at the end of the study was higher in prednisone group and steroid treatment with deflazacort appears to cause fewer side effects than prednisone regarding weight gain.ConclusionDeflazacort seems to be more effective than prednisone in the improvement of motor function causing fewer side effects, particularly weight gain. This medication may be important for the improvement of motor function and could be used as the best steroidal treatment for Duchenne muscular dystrophy.

ObjectiveThis study investigates the awareness and perception on “epilepsy” amongst biology teachers in Fars province, Iran.Materials & MethodsA sample of high school biology teachers in Fars province, Iran, filled out an investigator designed questionnaire including questions about their knowledge and attitude concerning “epilepsy”. There were 17 questions in the questionnaire. Nine questions addressed the knowledge and the rest were about attitude and perception.ResultsForty two teachers completed the questionnaires. More than two-thirds of the participants had a fairly desirable awareness about the definition; whereas, only approximately 40% knew something about the etiology and treatment of epilepsy. More than two-thirds of the participants had a positive attitude towards epilepsy; however, misconceptions and negative attitudes were observed.ConclusionEducational programs for biology teachers and also other teachers are necessary to improve their knowledge, attitude and perception about epilepsy.

ObjectiveTo evaluate the incidence and risk factors of development of postdural puncture headache in children who had intrathecal chemotherapy injection.Materials & MethodsTwo-hundred eighty patients (mean age, 7.23±3.92 years) who had intrathecal chemotherapy injection were studied prospectively during 2008-2009 in the pediatric ward of Dr. Sheikh hospital in Mashhad. Patients who had lumbar puncture for their chemotherapy drug injections were assessed daily for four days to detect postdural puncture headache.ResultsThere were 172 (61, 4%) male patients and the remainder were female. Postdural puncture headache was detected in 41 patients (14.6%). The body mass index did not show any significant difference between the two groups. Lumbar puncture (LP) attempts had a significant association with postdural puncture headache. The size and shape of the needle did not have a significant association with postdural puncture headache.ConclusionLP attempts have a significant relationship with postdural puncture headache.

ObjectiveFebrile seizures are the most common cause of seizure in children. Identification of risk factors is very important. This study was conducted to determine the association between the serum copper level and simple febrile seizure in children.Materials & MethodsIn this study, 30 children with simple febrile seizures (case group) were compared with 30 children with febrile illness without seizures (control group) regarding serum copper level. This study was conducted in Qazvin children’s hospital (Qazvin, Iran).ResultsThe mean serum copper levels in the case and control groups were 141.41±30.90 and 129.43±18.97 mcg/dl, respectively. This difference was not significant statistically.ConclusionThis study revealed that there is no association between serum copper levels and febrile seizures. It seems that copper deficiency is not a risk factor for febrile seizures in children.

ObjectiveEpilepsy is a common neurological disorder in children. Parents with epileptic children have many psychosocial care needs. So the main goal of this study was to evaluate depression and anxiety in Iranian mothers with epileptic children.Materials & MethodsWe identified 30 mothers of children with epilepsy and 30 mothers of children without epilepsy with children aged between 8 and 12 years who met the study criteria. In all children with epilepsy, the mothers were the main caregivers and all these children lived in two-parent families. Children in the control group were in the same age. Ninety-eight percent of children in the control group lived in two-parent families with the mother as the main caregiver. All mothers fulfilled the Beck Depression Inventory (BDI) and Spielberger State-Trait Anxiety Inventory.ResultsAccording to these data, BDI scores were significantly higher in the mothers of epileptic children (mean of Beck score=16.5) compared to the control group (mean of Beck score=9.8). The total, Spielberger State-Trait Anxiety Inventory scores for mothers of children with epilepsy were 100.3, 51.7 and 48.6. However, these scores in the control group were 86.9, 45.1 and 41.8. These differences were statistically significant.In a second analysis, using the demographic data, we did not find any statistically significant relation between anxiety or depression and the mothers’ job, children’s medication and other demographic variables.ConclusionNeurologists and psychiatrists need to develop better programs for adequate management of psychiatric disorders in mothers with epileptic children.

Infantile methadone intoxication has been on the rise since the usage of methadone in opioid detoxification programs. We report a 30-month-old child with encephalopathy and acute hydrocephaly following methadone intoxication.

Tuberous sclerosis is a neurocutaneous syndrome characterized by a clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and lack of seizures, often within the same family(1). The younger the patients present with symptoms and signs of TSC (tuberous sclerosis complex), the greater are the likelihood of mental retardation (2). Skin features are very characteristic of the disease and help in the early diagnosis of the disease. Shagreen patch is one of the major diagnostic features of the disease. It is a less common skin lesion consisting of an excess amount of fibrous tissue similar to that found in scar tissues (3). It is a section of thickened, elevated pebbly skin like an orange peel. The name is derived from the French phrase “peau chagrinee”. It is usually found on the lower back, buttock, thigh and the nape of the neck commonly. In this case report we report a characteristic skin lesion, the shagreen patch in a six-year-old child with TSC at an unusual site (the cheek) never reported before with the best of our knowledge.