Journal of Pediatric Neurology - Volume 4, issue 2

Authors: Khadilkar, Satish V. | Patil, Shekhar G. | Dastur, Rashna S. | Gaitonde, Pradnya S. | Nadkarni, Jayashree J.

Article Type: Research Article

Abstract: In a cohort of 40 consecutive patients with dystrophinopathy, 29 (72.5%) showed dystrophin gene deletions. Five (17.2%) of these deletions had two non-contiguous deletions involving proximal and central hotspot regions i.e. double deletions. Patients with double deletions tended to have superior functional grading than those with single or no deletion. Double deletions within the dystrophin gene form an interesting feature of this cohort of Indian patients. Sporadic cases amounted to 75% (30/40). Deletions in the sporadic …Duchenne muscular dystrophy patients were localized to the central hotspot region. The proximal hotspot mutations were seen exclusively in the families with affected siblings. Clinical course of affected siblings was largely concordant, except for one family. One family with intrafamilial phenotypic variability is reported. The three male cousins in this family had phenotypes varying from Duchenne muscular dystrophy, Becker's muscular dystrophy to cramp myalgia. Show more

Keywords: Double deletion, dystrophinopathy, phenotype

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 75-82, 2006

Authors: Yinan, M.A. | Yu, Ql | Zhiyue, Chen | Liping, Zou | Fang, Fang | Liwen, Wang | Fuying, Song | Jianhui, Zhang | Dingfang, Bu | Tianjun, Wang | Qing, Lin | Xiru, Wu

Article Type: Research Article

Abstract: Febrile seizures (FS) are considered as a genetic disease, but the specific genes responsible for it have not yet been identified. Based on our previous linkage analysis data that mapped our simple FS families to 19p13.3 and the function of the genes in this region, four genes (HCN2, NRTN, CAPS and GPX4) were chosen as candidate genes for FS. To investigate the possibility of association of these four genes with FS in Chinese Han population, we …systematically screened all exons and their flanking introns of the four genes and found 22 single nucleotide polymorphisms (SNPs). Using nine of the SNPs as markers, we conducted association studies in 60 FS patients and 101 normal controls. No significant discrepancies between the FS cases and controls were found in allele and genotype frequencies of the four SNPs in HCN2 gene, one SNP in NRTN gene, one SNP in CAPS gene and three SNPs in GPX4 gene. Our results imply that the four genes are not the susceptibility genes for FS at least in Chinese population. Show more

Keywords: Febrile seizures, single nucleotide polymorphism, linkage, Chinese

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 83-87, 2006

Authors: Al-Haggar, Mohammad | Al-Aiouty, Mostafa | Ragab, Mohamed | Yehia, Soheir

Article Type: Research Article

Abstract: Information concerning clinical and sub-clinical peripheral neuropathy in uremic children is still scarce. We aimed to evaluate role of neurophysiologic testing for detection of peripheral nerve dysfunction in asymptomatic uremic Egyptian children. A cohort of 81 uremic children was enrolled from Pediatric Nephrology Unit in Mansoura University Children's Hospital. It comprised 39 cases on conservative therapy; conservative group (CG) (27 males and 12 females, with mean age 9.8 ± 3.3 years) and …42 cases under regular hemodialysis for at least 6 months; hemodialysis group (HG) (27 males and 15 females, with mean age 11.8 ± 1.6 years). A third group of twenty healthy children was taken as control (12 males, and eight females, with mean age 9.9 ± 2.4 years). Nerve conduction studies including motor and sensory functions were done successfully in most cases; data were analyzed using SPSS version 10.0. Different proportions of abnormal motor and sensory conduction studies were reported in both patients' groups with reference to pediatric ranges built-in Sierra II software. Comparing these observations to controls, motor peroneal and median conduction velocities as well as sensory ulnar conduction velocity were significantly delayed in HG (38.46 ± 4.49 vs. 48.33 ± 3.35 for peroneal, 50.68 ± 10.87 vs. 57.22 ± 7.13 for median and 32.82 ± 9.8 vs. 52.08 ± 20.12 for ulnar nerve). However, in CG antidromic sensory median conduction was the only significant abnormality detected (41.13 ± 9.63 vs. 53.89 ± 12.32). F wave latencies in CG were almost normal but in HG they were moderately affected compared to controls. We can conclude that sensory dysfunction could be early detected in asymptomatic uremic children by neurophysiologic testing. Further prospective studies should be warranted to evaluate sequential electrophysiological changes in response to hemodialysis. Show more

Keywords: Electromyography, neuropathy, uremia, Egyptian children

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 89-95, 2006

Authors: Mohammed, Elsayed A. | Jan, Mohammed M.

Article Type: Research Article

Abstract: Levetiracetam (LEV) is a new antiepileptic drug (AED), which has a mechanism of action distinct from that of other AEDs suggesting a potentially valuable therapeutic profile. Our objective is to report our experience in treating children with intractable epilepsy. Prospective, open label, add on trial of LEV in treating consecutive children with intractable epilepsy (defined as recurrent seizures after at least three antiepileptic medication trials). Follow up by one pediatric neurologist was performed. Therapeutic …response was recorded as complete (no seizures), good (> 50% seizure reduction), fair (< 50% seizure reduction), or none. Thirty children (58% males) aged 15 months-15 years (mean 5.8 years, SD 3.9) were included. Most children (80%) had daily seizures, were tried on multiple AEDs (mean 4.7, SD 1.5), and had cognitive deficits (86%). The epilepsy was symptomatic in 64%. The mean LEV dose was 41 mg/kg/day and the children were followed for 4–8 months (median 5 months, SD 2.5). After the introduction of LEV, six (20%) children became completely seizure free and 43% had > 50% seizure reduction. The percentage of children with daily seizure was reduced from 80% before LEV to 27% afterward (P<0.0001). Side effects were reported in 10 (33%) children in the form of decreased appetite, irritability, sedation, and seizure worsening. The majority were transient, however, LEV had to be withdrawn in four (13%) children because of lack of efficacy or seizure worsening. LEV is a novel AED with a broad spectrum of antiepileptic efficacy. The drug was well tolerated and most side effects were transient. However, larger controlled studies are needed in young children to establish the long-term efficacy and safety. Show more

Keywords: Levetiracetam, treatment, child, intractable, epilepsy, seizure

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 97-101, 2006

Authors: Jha, Sanjeev | Kumar, Rajesh | Kumar, Raj

Article Type: Research Article

Abstract: Neurocysticercosis (NCC) is a major public health problem as it is the most common helminthic infestation of the central nervous system in developing countries. Clinical manifestations are nonspecific and pleomorphic, but case reports on uncommon presentations of NCC in children are relatively few. We report four cases of NCC in children, with unusual clinical presentations, which exhibit the spectrum of clinical pleomorphism. These include cases presenting with syndrome of cerebellar ataxia, focal dystonia, …stroke and dementia. Their clinical details and possible mechanism for these uncommon presentations are also discussed. Thus, a high level of suspicion should be kept for NCC, especially in endemic zones and developing countries. It is important that neurologists become familiar with this disorder, as they are involved in the diagnosis and management of NCC and will play an important role in efforts to control the disease. Show more

Keywords: Ataxia, dementia, focal dystonia, neurocysticercosis, stroke

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 103-109, 2006

Authors: Karmon, Yuval | Gadoth, Natan

Article Type: Research Article

Abstract: We report on a 16 years old boy who presented with an acute onset of rhinolalia, unilateral palatal paralysis and fluid regurgitation via the ipsilateral nostril compatible with isolated glossopahryngeal nerve palsy. All symptoms and signs resolved spontaneously during the course of a few weeks. Extensive laboratory investigations and brain imaging studies were normal.

Keywords: Neuropathy, cranial nerves, glossopharyngeal nerve, palatal paralysis

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 111-113, 2006

Authors: Awasthy, Neeraj | Chand, Karam | Singh, Avninder P.

Article Type: Research Article

Abstract: Hydatid disease or hydatidosis caused by Echinococcus granulosus is the most widespread, serious human cestode infection in the world. Brain involvement is reported in 1–2% of all Echinococcus granulosus infections. Fifty–5% cases of the intracranial hydatid cysts are seen in children. We report a case of this rare entity of the isolated intracranial extradural hydatid cysts in an 18 years old young boy, who presented with history of generalized seizures and raised intracranial …pressure. The patient underwent craniotomy with total excision of the cysts. The diagnosis of the hydatid disease was confirmed on histopathology. Patient was given albendazole for 3 months postoperatively. Postoperative computed tomography scan done 1 month later showed no residual cysts, however 2 years later patient again presented with recurrent seizures and this time computed tomography showed recurrence of cysts. Patient underwent craniotomy again with excision of the hydatid cysts and has been asymptomatic for the last 4 months. Show more

Keywords: Hydatid cysts, intracranial mass

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 115-119, 2006

Authors: Kalita, Jayantee | Misra, Usha K. | Bansal, Vikas | Shankar, Susarla K. | Mahadevan, Anita

Article Type: Research Article

Abstract: An 11-year-girl presented with rapidly progressive visual loss, which partially improved following prednisolone therapy. One month later, she developed mental changes and incontinence. She was confused, had bilateral cortical blindness and pyramidal signs. Electroencephalography revealed slowing and T2-weighted magnetic resonance imaging hyperintensity in the frontal and parieto-occipital regions. Cerebrospinal fluid was positive for measles antibody. She died on the third month of illness. Postmortem brain biopsy was positive for measles antigen. She …did not have myoclonus or periodic discharges in electroencephalography during the entire course of illness. In children with visual impairment and rapidly deteriorating neurological status, subacute sclerosing panencephalitis should be considered. Cerebrospinal fluid measles antibody may clinch the diagnosis. Show more

Keywords: SSPE, fulminant course, MRI, EEG, retrobulbar neuritis

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 121-125, 2006

Authors: Kendirli, Tanıl | Teber, Serap Tıraş | Pekacar, Tuba | Argun, Mustafa | Deda, Gülhis

Article Type: Research Article

Abstract: Botulism is an acute, flaccid paralytic illness caused by the neurotoxin produced by Clostridium species. Three forms of botulism are known; infant botulism, food borne, and wound botulism. We report an 11-year-old boy with food borne botulism diagnosed on electromyography. Although his clinical findings improved in 10 days, his symptoms recurred, showing a biphasic course. After 3 weeks, he was symptom free. His electromyography findings were also normal on the 3rd week. After 3 weeks, he …was discharged without clinical symptoms. Show more

Keywords: Botulism, cranial nerve paralysis, electromyogram, poisoning

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 127-130, 2006

Authors: Olgar, Seref | Ertugrul, Turkan | Dursun, Memduh | Nisli, Kemal | Ozmen, Meral

Article Type: Research Article

Abstract: Parry-Romberg syndrome (PRS) is a rarely seen connective tissue disorder and is characterized by chronic inflammation of the face. Anti-nuclear antibodies, anti-extractable nuclear antigens and skin biopsy are helpful for diagnosis. In this study, we determined that the external carotid artery blood flow rate was faster on the affected side than on the unaffected side. We believe that patients suffering from PRS who also have central nervous system symptoms must be examined for vascular structure by …Doppler ultrasonography, magnetic resonance imaging or conventional angiography. Show more

Keywords: Parry-Romberg syndrome, chronic inflammation, seizure, anticardiolipin antibody

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 131-134, 2006

Authors: Sharma, Natwar | Viswanathan, Venkataraman | Gowrishankar, Kalpana

Article Type: Research Article

Abstract: Schwartz-Jampel syndrome, also known as chondrodystrophica myotonia or myotonic myopathy is a rare, autosomal recessive disorder resulting from a defect in chromosome 1p36.1. Around 50 cases have been reported in literature. We present a 3 years old female with Schwartz-Jampel syndrome to highlight the benign course of this disease in some children.

Keywords: Schwartz-Jampel syndrome, chondrodystrophic myotonia, myotonic myopathy

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 135-137, 2006

Authors: Teber, Serap | Unal, Ozlem | Deda, Gulhis | Fitoz, Suat | Uysal, Zumrut | Akar, Nejat

Article Type: Research Article

Abstract: Sinovenous thrombosis is very rare in the pediatric population especially beyond neonatal period. This condition can be related to various etiologies depending upon patient's age. In this case report, we present a child with sinovenous thrombosis secondary to Behçet's disease. This 15-year-old male was admitted to our hospital with headache after he was followed for uveitis and recurrent oral aphthous ulceration. Since the cerebrospinal fluid pressure was 58 cm H_2 O and there was no …lesion on cranial computed tomography and magnetic resonance imaging, he was first diagnosed as pseudotumor cerebri. In spite of acetazolamide therapy and intermittent lumber punctures, his symptoms and high cerebrospinal fluid pressure persisted. Three weeks later cranial computed tomography with contrast was performed again and thrombosis was seen in the transverse and sagittal sinuses. He was treated successfully with heparin and steroid therapy. Show more

Keywords: Behçet's disease, sinovenous thrombosis, pseudotumor cerebri

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 139-142, 2006

Authors: Masri, Amira | Hamamy, Hanan

Article Type: Research Article

Abstract: Canavan disease (CD) is a fatal, hereditary disorder of central nervous system development that has been linked to mutations in the gene for the enzyme aspartoacylase (ASPA) which leads to accumulation of N-acetyl aspartic acid (NAA) in the brain with resultant leukodystrophy. CD is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly, and seizures. We report a 3 months …old male infant, the sixth child of healthy consanguineous second cousins parents, presenting with poor visual fixation poor response to sounds, axial and peripheral hypotonia, severe head lag, and exaggerated deep tendon reflexes in the upper and lower limbs. Family history revealed that the proband had four brothers and one sister with severe global delay, poor visual fixation, poor response to sounds, spasticity, poor head control and large heads. Urinary organic acids showed high levels of NAA, and ASPA gene mutation analysis identified a rare mutation in exon 1 (G27 R). This is the first case of CD to be reported from Jordan. Organic acid screening in urine for all infants with global delay and macrocephaly could lead to the diagnosis of more cases of CD in Jordan with determination of the most prevalent gene mutation and the designation of the relevant screening test. Show more

Keywords: Canavan disease, leukodystrophy, macrocephaly

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 143-146, 2006