Journal of Pediatric Neurology - Volume 12, issue 2

Authors: Golalipour, Mohammad Jafar | Arabi, Mohsen | Ali Vakili, Mohammad

Article Type: Research Article

Abstract: Several studies reported that enriched cereal grains have been fortified with folic acid to reduce the incidence of neural tube defects (NTDs). The present study was done to evaluate the impact of flour fortification with folic acid on the prevalence of NTDs in Northern Iran. In this hospital-based study conducted between March 2006 and September 2009, we screened all live births at 16 hospitals and therapeutic abortions in legal centers in Golestan province of Northern Iran. …The number of births, per 1000, affected by NTDs during the periods before (March 2006-June 2007), during (July 2007-March 2008) and after (May 2008-September 2009) folic acid fortification was assessed. NTDs including anencephaly, encephalocele and spina bifida were defined in accordance with the international classification of diseases, 10th revision (international classification of diseases-10). A total of 126 subjects with NTDs were recorded among live births (104,232) and therapeutic abortions (131) from March 2006 to September 2009. The prevalence of NTDs reduced from 1.78 per 1,000 births before fortification (95% confidence interval: 1.36 to 2.28) to 0.84 per 1,000 after full fortification (95% confidence interval: 0.60 to 1.14). The reduction rate of NTDs between before and after fortification was 52.81%. This study showed that flour fortification with folic acid is associated with a significant reduction in the rate of NTDs in Golestan province of Northern Iran. Show more

Keywords: Neural tube defects, folic acid, flour fortification, Iran

DOI: 10.3233/JPN-140642

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 69-73, 2014

Authors: Kanemura, Hideaki | Sano, Fumikazu | Ohyama, Tetsuo | Hosaka, Hiromi | Sugita, Kanji | Aihara, Masao

Article Type: Research Article

Abstract: Asymmetries have been reported in several regions of the brain of patients with developmental disorders such as autism, developmental language disorder, and attention deficit hyperactivity disorder (ADHD). This study focused on age-related anatomical asymmetries of the prefrontal lobe, which can be manifestations of regional specialization of systems organization where there are functional differences between the left and right hemispheres, in children with ADHD. Subjects were 7 right-handed boys with ADHD aged 6–12 …years and 5 age-matched controls. Exclusion criteria were full-scale intelligence quotient less than 80, comorbid learning disorder or developmental delay, evidence of medical or neurological disease on examination or by history, or Tourette's syndrome. No subjects met criteria for conduct disorder or oppositional disorder. Volume of the frontal and prefrontal lobes was determined using a workstation and the prefrontal-to-frontal lobe and left-to-right volume ratios were calculated. Both control and ADHD groups had a larger aggregate volume of left frontal and prefrontal lobes than of right frontal and prefrontal lobes. The leftward bias of the frontal lobe was significantly pronounced in ADHD subjects than in control subjects (P=0.026). In addition, the leftward bias of the prefrontal lobe was more pronounced in ADHD subjects than in control subjects (P=0.0041). The left-to-right volume ratio of the prefrontal lobe increased with age in both groups. The left-to-right volume ratio of the frontal lobe was more pronounced in ADHD (r=0.922, P=0.0014) than control group (r=0.521, P=0.414). In addition, the left-to-right volume ratio of the prefrontal lobe was more pronounced in ADHD (r=0.903, P = 0.0029) than control group (r=0.701, P=0.219). These findings support the argument that right-sided prefrontal structural anomalies may occur disproportionately in ADHD. Show more

Keywords: ADHD, 3-D MRI, brain volumetry, frontal lobe, prefrontal lobe, brain asymmetry, behavior

DOI: 10.3233/JPN-140643

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 75-81, 2014

Authors: Ekker, Merel S. | Rietveld, Anke | Kamsteeg, Erik-Jan | van Alfen, Nens | Sie, Lilian T.L. | Erasmus, Corrie E.

Article Type: Research Article

Abstract: Congenital myasthenic syndromes (CMS) cover a group of heterogeneous disorders in which the neuromuscular transmission is affected. We diagnosed CMS in nine unrelated patients in the Netherlands. Six mutations were discovered in the acetylcholine receptor epsilon subunit gene, two in the receptor-associated protein of the synapse gene and one mutation in dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1. We describe the diagnostic work up in these children and common diagnostic pitfalls that caused delay in …diagnosis and treatment, such as the lack of specificity of clinical features, technical drawbacks of invasive testing in young children, non-specific changes in muscle histology and false negative results of electromyography. Early initiation of treatment and alternative treatment regimens can considerably improve the quality of life of patients with CMS. Show more

Keywords: Congenital myasthenic syndrome, RAPSN, CHRNE, DPAGT1, phenotype, genotype, slow channel syndrome, acetylcholine receptor deficiency, neuromuscular junction

DOI: 10.3233/JPN-140644

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 83-90, 2014

Authors: Chandr and, Surabhi | Momi, Harpreet

Article Type: Research Article

Abstract: Landry Guillain-Barré syndrome is an acute onset, progressive, bilateral symmetrical polyneuropathy of autoimmune origin. Neuropathy is due to immune attack of the peripheral nerve antigens, which exhibit molecular mimicry with the antigens of the preceding infectious agent, usually of acute respiratory and gastrointestinal illnesses. Pulmonary tuberculosis is widespread in developing countries and it is showing resurgence in the developed countries. We report a case of Guillan-Barré syndrome in association with pulmonary tuberculosis …in a 9-year-old child. Show more

Keywords: Guillain-Barré syndrome, pulmonary tuberculosis, child

DOI: 10.3233/JPN-140645

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 91-93, 2014

Authors: Rezaei, Amir | Kamali, Karmela | Haghbin, Saeedeh | Inaloo, Sorour

Article Type: Research Article

Abstract: Acute necrotizing encephalopathy of childhood (ANEC) is a rare form of encephalopathy characterized by rapid neurological deterioration along with seizures, decreased level of consciousness and coma. We herein report ANEC in a 12-month-old Iranian girl following febrile respiratory illness. She presented with convulsions characterized by upward gaze, spastic posture and sucking movements followed by rapid deterioration of consciousness and hemodynamic instability due to involvement of brainstem. Although several cases have been reported …from East Asian countries, it has been rarely reported from Middle East region. This is the third case being reported from Iran. The diagnosis of ANEC should be kept in mind in all children with progressive neurological deterioration following a febrile convulsion. Although neuroradiological findings might be non-specific especially in early course of the disease, brain imaging should be performed when there is suspicion regarding the diagnosis. Show more

Keywords: Acute necrotizing encephalopathy, childhood, febrile respiratory illness, brain imaging

DOI: 10.3233/JPN-140646

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 95-99, 2014

Authors: Gowda, Vykuntaraju K. | Srinivas, Sahana M. | Seth, Preethi | Lakskman, Ramesh R. | Shivappa, Sanjay K. | Ramaswamy, Premalatha

Article Type: Research Article

Abstract: Vitamin D deficiency and rickets are not uncommon associations with keratinizing disorders. Children with ichthyosiform erythroderma are more prone to develop vitamin D deficiency and rickets, due to decreased exposure to sunlight, and dietary insufficiency. We report a case of lamellar ichthyosis in two siblings with vitamin D deficiency developing severe rickets and musculoskeletal features with myopathy.

Keywords: Myopathy, rickets, lamellar ichthyosis

DOI: 10.3233/JPN-140647

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 101-104, 2014

Authors: Buterbaugh, Allison | Visootsak, Jeannie

Article Type: Research Article

Abstract: Trisomy 21, leading to Down syndrome (DS) is the most common genetic cause of intellectual disability. Approximately 1–13% of children with DS have co-morbid seizures, with infantile spasms being the most frequent type of seizure identified. Although the clinical and electroencephalography findings of infantile spasms are similar between children with DS and typically developing children, there is often a delay in the diagnosis of these seizures in children with DS. We present the case of a …male infant with DS, where the diagnosis of infantile spasm was delayed by 5 months. His case was associated with developmental regression and intractable seizure activity following diagnosis. The case highlights the implications of delayed diagnosis on treatment strategies and developmental outcomes. Show more

Keywords: Down syndrome, infantile spasms, delayed diagnosis

DOI: 10.3233/JPN-140648

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 105-107, 2014

Authors: Gowda, Vykuntaraju K. | Madivala, Bhaskar V. | Vignesh, Sukanya | Srikanteswara, Praveen-Kumar | Vykuntaraju, Sarala H. | Ramaswamy, Premalatha

Article Type: Research Article

Abstract: Hemiconvulsion-hemiplegia-epilepsy syndrome is an uncommon consequence of prolonged focal febrile convulsive seizures in infancy and early childhood. We report two cases of hemiconvulsion-hemiplegia-epilepsy syndrome who presented acutely and had striking neuroimaging findings suggestive of diffuse cytotoxic edema confined to one hemisphere as documented by magnetic resonance imaging, including extensive diffusion weighted imaging abnormalities in both the cases.

Keywords: HHE syndrome, developmental delay, focal febrile status epilepticus

DOI: 10.3233/JPN-140649

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 109-113, 2014

Authors: Sohal, Aman Singh | Whittle, Victoria | Kisler, Jill

Article Type: Other

DOI: 10.3233/JPN-140650

Citation: Journal of Pediatric Neurology, vol. 12, no. 2, pp. 115-116, 2014