Journal of Pediatric Neurology - Volume 11, issue 2

Authors: Rezaie, Roozbeh | Zouridakis, George | Choudhri, Asim F. | Wheless, James W. | Völgyi, Eszter | Van Poppel, Katherine | Clanton, Nancy R. | Papanicolaou, Andrew C.

Article Type: Research Article

Abstract: Despite the frequent occurrence of autism spectrum disorder (ASD) in tuberous sclerosis complex (TSC), the neurophysiological factors that distinguish children with TSC from children with TSC presenting with ASD symptoms remain unspecified. Growing evidence suggests that ASD may be characterized by atypical structural and functional connectivity between specific cortical regions. In this exploratory study, we utilized magnetoencephalography to derive resting brain connectivity patterns, in an attempt to identify neurophysiological markers that may …differentiate TSC children with ASD (n=2) from TSC children without ASD (n=2) and typically developing children (n=2). Connectivity pattern analysis revealed that TSC children presenting with ASD symptoms can be distinguished from TSC and typically developing children by the presence of long-range, medial, anterior-posterior connections previously observed in adolescents with ASD. While preliminary in nature, our findings support the notion that altered functional connectivity may be a constituent characteristic of ASD and may enable prediction of which TSC children are likely to develop ASD and facilitate early behavioral and medical intervention. Show more

Keywords: Tuberous sclerosis complex, autism spectrum disorder, magnetoencephalography, functional connectivity

DOI: 10.3233/JPN-130599

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 79-82, 2013

Authors: Shahar, Eli | Zlotnik, Sharon | Ravid, Sarit | Engel-Yeger, Batya

Article Type: Research Article

Abstract: Sensory processing abilities involve the registration and modulation of sensory information and the internal organization of sensory input. These abilities are necessary for executing successful responses to the environmental demands and thus for meaningful engagement in daily activities. Sensory processing disabilities are defined as inability to process sensory stimuli in a graded manner and to execute behaviors that are suitable to the degree, nature or intensity of the sensory stimuli. As such, sensory processing …disabilities may affect function, behavior and quality of life in a negative manner. At present, the sensory profile of children with generalized epilepsy has not been fully elucidated. The purpose of the study was to assess possible sensory processing disabilities within all sensory modalities in children with generalized epilepsy. Forty-eight children at the age of 6–10.9 yr participated including 22 patients with generalized epilepsy compared with 26 age and gender matched controls. A standardized Short Sensory Profile questionnaire including 38 items was given to caregivers to report, measured tactile and taste/ smell sensitivities, movement sensitivity; under-responsive/seeks sensation, auditory filtering, low energy/weak sensation and visual/auditory sensitivity. We have found that children with generalized epilepsy had significantly higher sensory processing disabilities in all sensory modalities compared with controls and even showed extreme patterns of under-responsive/sensation seeking. These results are preliminary given a rather small group of patients in each tests group and should be verified in large groups. The present study further delineates the growing bulk of data recognizing generalized epilepsy among children as a multi-faceted neurological disorder with diverse functional disabilities also including sensory processing dysfunction. Show more

Keywords: Generalized epilepsy, children, sensory processing disabilities, short sensory profile, hypersensitivity, tactile sensitivity, auditory filtering

DOI: 10.3233/JPN-130600

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 83-88, 2013

Authors: Hwang, Tae Gyu | Lee, Junhwa | Kim, Doo-Kwun | Seo, Hye-Eun | Byun, Jun Chul | Kwon, Soonhak

Article Type: Research Article

Abstract: Benign rolandic epilepsy (BRE) is a benign condition, but may display different degrees of neuropsychological deficits, such as cognitive disturbances, attention deficit hyperactivity disorder, and other behavioral deficits. The aim of this study was to assess the neuropsychological functions and their relationship to the characteristics of interictal epileptiform discharges in children with BRE. A total of 33 children with newly diagnosed BRE (19 males/14 females, 8.2 ± 2.4 yr) were involved in the study. All …children underwent a sleep electroencephalography and a comprehensive neuropsychological evaluation, which included Korean versions of the Wechsler intelligence scale for children III, frontal executive neuropsychological test, Rey complex figure test, Wisconsin card sorting test, attention deficit diagnostic scale, and child behavior checklist. The average monthly seizure frequency of the subjects was 0.8 ± 0.8, and the spike index was 14.1 ± 18.4/min (right) and 18.8 ± 22.1/min (left). On the whole, subjects exhibited normal cognitive function, frontal executive function, memory and other neuropsychological sub-domain scores. The group with a higher spike index on the left hemisphere scored lower on attention deficit diagnostic scale, auditory verbal learning test, and stroop test (P < 0.05), and the group with a high spike index (10 > min) scored lower on full scale and performance intelligence quotient (110.7 ± 18.0 vs. 96.8 ± 11.2; 107.4 ± 16.4 vs. 94.3 ± 12.8) (P < 0.05). In addition, five of 33 children (15%) exhibited attention difficulties as well as behavioral and emotional difficulties even though they are mild. The data show that the BRE sufferers are at risk for cognitive, attention, behavioral, and emotional impairment, which might have relevance to localized interictal epileptiform discharges. However, further studies are still needed to elucidate the core nature of BRE. Show more

Keywords: Benign childhood epilepsy, centrotemporal spikes, cognition, ADHD, behavior

DOI: 10.3233/JPN-130601

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 89-95, 2013

Authors: El-Ebiary, Ahmad A. | Bahnasy, Wafik S. | Donia, Amr A. | Abdel-Rahman, Mohamed Nabih | Abdelmotelb, Ahmed A.M.

Article Type: Research Article

Abstract: Immunologic disorders have been noticed in epileptic patients and were attributed to either the direct effect of the disease or the effect of antiepileptic drug therapy. Published human data on the effect of sodium valproate on immunoglobulin serum levels are scarce, and results from different studies are inconsistent and sometimes conflicting. Hence, this study was conducted to evaluate the potential immune-toxic effect of sodium valproate in male children with focal epileptic seizures. Thirty healthy children, as …well as 22 untreated and 27 valproate-treated children with focal seizures were enrolled in this study. The serum levels of IgA, IgM and IgG were measured in all participants using enzyme-linked immunosorbent assay. Samples from valproate-treated epileptics were also used to assess serum sodium valproate levels. We found that valproate-treated patients had a significant reduction in the serum IgA levels compared to healthy and epileptic controls. However, significantly higher serum IgM and IgG concentrations were found in untreated patients compared with the healthy controls. Correlation analysis revealed significant negative correlation between serum IgA concentration and serum sodium valproate level. We concluded that sodium valproate therapy in epileptic children with focal seizures was associated with reduction in serum IgA levels. Serum immunoglobulins should be frequently measured in cases under long-term sodium valproate therapy. Show more

Keywords: Valproate, focal seizure, immunotoxicity, immunoglobulin

DOI: 10.3233/JPN-130602

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 97-102, 2013

Authors: Shankar, Shah Gauri | Prakash, Mishra Om

Article Type: Research Article

Abstract: The present study was undertaken to find out the prevalence, pattern and etiology of seizure disorders iThe present study was undertaken to find out the prevalence, pattern and etiology of seizure disorders in children attending at a tertiary care center of a teaching hospital. The prevalence of seizure disorder was 3.9/1,000. Generalized seizures were reported in 69.5%, partial seizures in 19% and unclassified seizures in 11.4% of cases. Cranial computerized tomography (CT) scan could be performed …in 87 (82.8%) patients and was abnormal in 66 (75.8%) cases. Neurocysticercosis was the most common (31%) etiology detected, followed by brain atrophy 10 (11.4%) and cerebral dysgenesis in seven (8%) children. The electroencephalogram (EEG) was abnormal in 48/87 (55.1%) cases and showed generalized discharges in 30 (62.5%) and focal slowing/discharges in 18 (37.5%) patients. In conclusion, CT scan and EEG should be undertaken in children with seizures to find out the etiological diagnosis so that specific treatment and antiepileptic drugs can be chosen for effective control.n children attending at a tertiary care center of a teaching hospital. The prevalence of seizure disorder was 3.9/1,000. Generalized seizures were reported in 69.5%, partial seizures in 19% and unclassified seizures in 11.4% of cases. Cranial computerized tomography (CT) scan could be performed in 87 (82.8%) patients and was abnormal in 66 (75.8%) cases. Neurocysticercosis was the most common (31%) etiology detected, followed by brain atrophy 10 (11.4%) and cerebral dysgenesis in seven (8%) children. The electroencephalogram (EEG) was abnormal in 48/87 (55.1%) cases and showed generalized discharges in 30 (62.5%) and focal slowing/discharges in 18 (37.5%) patients. In conclusion, CT scan and EEG should be undertaken in children with seizures to find out the etiological diagnosis so that specific treatment and antiepileptic drugs can be chosen for effective control. Show more

Keywords: Seizures, children, CT scan

DOI: 10.3233/JPN-130603

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 103-106, 2013

Authors: Prasad, Manish | Hussain, Shanawaz | Rittey, Chris | Connolly, Dan J. | Zaki, Heham

Article Type: Research Article

Abstract: There are several well-known causes for pediatric torticollis. However detailed review of the literature revealed only rarely association of torticollis with syringomyelia. We present a 4-year-old girl known to have torticollis since 18 months of age who presented acutely with right upper limb mono-paresis. Investigations revealed a Chiari type I malformation with extensive syringomyelia involving the whole of spinal cord extending from C1 to the conus. She responded very well to urgent posterior fossa decompression. …Syringomyelia involving the entire spinal cord is very rare in children and presentation with monoplegia, to the best of our knowledge, has not been described before. We recommend that torticollis should always be taken seriously and a thorough clinical assessment supplemented by neuroimaging should be considered. Show more

Keywords: Syringomyelia, torticollis, Chiari I malformation, monoplegia

DOI: 10.3233/JPN-130604

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 107-109, 2013

Authors: Srivastava, Kavita | Kalyan, Pawan | Oswal, Jitendra S. | Lalwani, Sanjay

Article Type: Research Article

Abstract: Neurocutaneous syndromes like neurofibromatosis type 1 (NF-1) and Sturge-Weber syndrome are seen in children with variable frequency. It is uncommon to have two such syndromes in an individual. We report a 9-year-old boy who presented with left focal seizures and left hemi-paresis. He had 19 café-au-lait spots along with a port-wine stain in right upper and mid part of his face. His magnetic resonance imaging of brain revealed hamartomatous foci in bilateral globi pallidi, right parietal …pial angiomatosis with ipsilateral choroid plexus enhancement. His mother was diagnosed with NF-1. On the basis of these clinico-radiological criteria, he was diagnosed as NF-1 with Sturge-Weber syndrome which is a rare combination. Such associations can stimulate further research regarding the pathogenesis of neurocutaneous syndromes. Show more

Keywords: Neurofibromatosis type 1, Sturge-Weber syndrome, association

DOI: 10.3233/JPN-130605

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 111-113, 2013

Authors: Shivamurthy, Vinay M. | Nandhakumar, N. | Gosalalakkal, Jayaprakash A. | Hussain, Nahin

Article Type: Research Article

Abstract: There is a wide differential for white matter changes on magnetic resonance imaging in an un-well neonate. Human parechovirus is one of the very few neurotropic viruses, which presents with sepsis like illness or encephalitis in neonates and can cause extensive white matter changes in the brain. We present a 7-week-old infant with fever, lethargy and poor feeding, who had extensive white matter changes on magnetic resonance imaging of the brain. Cerebrospinal fluid polymerase chain reaction …was positive for human parechovirus. Show more

Keywords: Human parechovirus, cerebrospinal fluid, polymerase chain reaction

DOI: 10.3233/JPN-130606

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 115-117, 2013

Authors: Elgamal, Essam A. | Almotairi, Fawaz S. | Abdullah, Asaad M. | Salih, Mustafa A.M.

Article Type: Research Article

Abstract: Cerebrospinal fluid (CSF) hydrothorax is a very rare complication following ventriculoperitoneal (VP) shunt. We report a 14-month-old boy, who was diagnosed to have open neural tube defect associated with ventriculomegaly. He underwent VP shunt at the age of 1 months. He presented with high-grade fever, shortness of breath, tachypnea, wheezy chest, and productive cough. Plain chest X-ray and computerized tomography revealed pleural effusion with distal catheter of the shunt located in the right pleural cavity. He …underwent externalization of the distal catheter followed by VP shunt revision. In the present case, CSF hydrothorax resulted from migration of the distal catheter into the pleural cavity. We reviewed 17 hitherto reported cases in the literature and the causes that lead to CSF hydrothorax are discussed. We emphasize the importance of careful and proper placement of the distal catheter during the tunneling procedure to prevent life-threatening complications. Show more

Keywords: Neural tube defects, hydrothorax, ventriculoperitoneal shunt, hydrocephalus, child

DOI: 10.3233/JPN-130607

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 119-122, 2013

Authors: Saha, Sudip | Mridha, Dhrubajyoti

Article Type: Research Article

Abstract: A 6-month-old male infant was admitted to hospital with the history of repeated attacks of focal convulsions since 1 day prior to admission. He was also suffering from frequent attacks of cough and cold since 5 months of age, which was marked prior to admission. The infant had fair complexion, sparse fuzzy woolly hair with marked trunkal hypotonia. Serum copper and ceruloplasmin levels were low, magnetic resonance imaging showed diffuse cerebral atrophy with ill-defined areas of …encephalomalacia. Microscopic examination of hair revealed pili torti. The patient was diagnosed as Menkes disease and treated symptomatically. For lack of facilities, we were not able to do magnetic resonance angiography and genetic study. Show more

Keywords: Convulsion, trunkal hypotonia, pili torti

DOI: 10.3233/JPN-130608

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 123-125, 2013

Authors: Das, Suman | Sarkar, Nirmalya | Chatterjee, Rita | Chatterjee, Kaushani | Chatterjee, Anish

Article Type: Research Article

Abstract: Chronic inflammatory demyelinating polyneuropathy is an immune mediated disorder of more than 2 mo duration. A 5-year-old male child presented with subacute onset of ascending weakness, hyporeflexia and respiratory insufficiency requiring mechanical ventilation. He had suffered from an exactly similar episode 1 yr back. Cerebrospinal fluid showed albuminocytological dissociation. Nerve conduction velocity study showed combined demyelinating and axonal type of polyradiculoneuropathy. Sural nerve biopsy revealed demyelination and axonal degeneration. The child responded …well to intravenous immunoglobulin in the acute phase and prednisolone was used to maintain the child in remission. Show more

Keywords: Chronic inflammatory demyelinating polyradiculoneuropathy, Guillian-Barre syndrome, demyelination, intravenous immunoglobulin

DOI: 10.3233/JPN-130609

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 127-130, 2013

Authors: Carbunar, Olimpia | Sinsioco, Claudine | Bicknese, Alma

Article Type: Research Article

Abstract: Spinal cord infarction is rare in children. Most described cases are in association with aortic surgery or arterial hypotension. In children, infarction can be confused with the more common disorder transverse myelitis as the magnetic resonance imaging findings and clinical presentation are often similar. We describe here a case of spontaneous spinal cord infarct initially treated as transverse myelitis.

Keywords: Spinal cord infarction, cerebrovascular disease, childhood stroke, transverse myelitis

DOI: 10.3233/JPN-130610

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 131-133, 2013

Authors: Balasubramaniam, Shanti | Salomons, Gajja S. | Blom, Henk J.

Article Type: Research Article

Abstract: Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in the remethylation of homocysteine to methionine. S-adenosylmethionine, formed from methionine and adenosine triphosphate, is the methyl donor in crucial reactions for brain development and function. MTHFR deficiency is the most prevalent inborn error of folate metabolism and is characterized by hyperhomocysteinemia and hypomethioninemia. A broad clinical spectrum includes psychomotor retardation, microcephaly, seizures, central respiratory failure and death. Premature atherosclerosis, arterial and venous …thrombosis or psychiatric manifestations occur in the late onset forms. We report a female neonate with severe MTHFR deficiency presenting with neonatal encephalopathy, congenital microcephaly, seizures, central hypoventilation with gross cerebral atrophy, hypomyelination and pontine hypoplasia on magnetic resonance imaging of brain. She succumbed at 10 wk of age despite treatment with oral S-adenosylmethionine, betaine, folinic acid, riboflavin and hydroxycobalamin. Show more

Keywords: MTHFR deficiency, remethylation of homocysteine, severe neurological impairment, microcephaly, seizures, central hypoventilation

DOI: 10.3233/JPN-130611

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 135-140, 2013

Authors: Patnaik, Sibabratta | Mohapatra, Manoranjan | Satpathy, Dina K. | Das, Swarnalata | Mohanty, Aswini K.

Article Type: Research Article

Abstract: An 8-month-old boy presented with high fever with seizures and weakness of legs. Cerebrospinal fluid analysis revealed acute pyogenic meningitis and magnetic resonance imaging revealed anterior sacral meningocele with epidural abscess. He was managed by surgery through posterior approach along with antibiotics. Clinical presentation, differential diagnosis, diagnostic modalities and management of this rare clinical condition is briefly discussed in this article.

Keywords: Anterior sacral meningocele, epidural abscess, pre-sacral space, Currarino triad, staphylococcal meningitis

DOI: 10.3233/JPN-130612

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 141-145, 2013

Article Type: Correction

DOI: 10.3233/JPN-130613

Citation: Journal of Pediatric Neurology, vol. 11, no. 2, pp. 147-147, 2013