Journal of Pediatric Neurology - Volume 12, issue 3

Authors: Mittal, Gaurav K. | Ganguly, Goutam | Bhattacharyya, Kalyan B. | Pandit, Alak | Biswas, Atanu | Roy, Arijit | Senapati, Asit K.

Article Type: Research Article

Abstract: Malformations of cortical development (MCD) are lesions produced by insult to the developing neocortex. MCD are frequently associated with refractory epilepsy. Clinical and electrophysiologic findings of MCD are variable. Our aims in this study are to identify cases of MCD in patients having epilepsy, to study the semiology of seizure, to look for associated risk factors and to correlate the semiology of seizure with the electroencephalographic (EEG) and magnetic resonance imaging (MRI) findings. We …studied 54 patients with MCD (from January 2011 till October 2012). Detailed medical and family histories were obtained in addition to neurological examinations and routine EEG evaluations. There were 29 (53.7%) males and 25 (46.3%) females, with ages ranging from 5 mo to 43 yr. The focal cortical dysplasias cases were sixteen (29.6%), schizencephaly eight (14.8%), polymicrogyria eight (14.8%), dysembryoblastic neuroepithelial tumor six (11.1%), lissencephaly five (9.3%), ganglioglioma three (5.6%), heterotopias three (5.6%), hemimegalencephaly two (3.7%), cortical hamartomas of tuberous sclerosis two (3.7%) and mixed lesion in one (1.8%). Overall, 40 (74.1%) cases had partial seizures. The EEG revealed interictal epileptiform discharges in 27 (50.0%) with the rest being normal. The commonest type of MCD was the focal cortical dysplasia. Most (74.1%) cases had focal seizures. There was poor correlation between semiology of seizure with the EEG and MRI findings. There was no history of any antenatal maternal infection or drug exposure. No risk factor except for positive family history was identified. Show more

Keywords: Epilepsy, malformations of cortical development, EEG

DOI: 10.3233/JPN-140651

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 117-126, 2014

Authors: Ming, Xue | Pak, Jayoung | Mulvey, Martha A. | O'Sullivan, Timothy | Reddy, Chitra | Schwab, Joseph | Pecor, Keith W.

Article Type: Research Article

Abstract: This study determined whether common symptoms of sleep disorders were more prevalent in children with cerebral palsy (CP), epilepsy, and with CP comorbid with epilepsy. The pediatric sleep questionnaire was administered to the guardians of healthy control children (n=69), children with CP (n=23), epilepsy (n=106), and CP comorbid with epilepsy (n=29). Scores on symptoms of sleep disordered breathing, insomnia, and excessive daytime sleepiness were analyzed separately and compared among the groups using …Kruskal-Wallis analysis of variance by ranks. In comparison to controls, the CP group had a significantly higher prevalence of sleep disordered breathing, insomnia, and excessive daytime sleepiness, and the CP comorbid with epilepsy group exhibited significantly higher prevalence of sleep disordered breathing and insomnia. The epilepsy group showed significantly higher prevalence of sleep disordered breathing than controls. The sleep complaints were more common in this cohort of children with CP and/or epilepsy that deserve clinical attention for proper diagnosis and treatment of sleep disorders. Show more

Keywords: Cerebral palsy, epilepsy, insomnia, sleep disordered breathing, excessive daytime sleepiness

DOI: 10.3233/JPN-140652

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 127-135, 2014

Authors: Işikay, Sedat | Bora Carman, Kürşat

Article Type: Research Article

Abstract: Breath holding spell (BHS) is a paroxysmal non-epileptic disorder. Although it is easy to diagnose in its typical form, the data are insufficient in developing countries. This study was performed in Gaziantep province, Turkey. Two thousand randomly selected 0–6 yr old children were invited to family health centers. A specific questionnaire was administered to parents. Children who had a history of BHS were referred to the hospital for medical history and neurological examinations. Of the 2000 …children who had been invited, 1843 (92.15%) participated and remained through to final analysis. Seventy (3.8%) children were diagnosed with BHS. The male to female ratio was 2:1, and the median age was 21 mo (13–29 mo). Based on parents' declarations, cyanotic BHS occurred in 61 (87.1%) children and the age of onset was during the first year of life for 98.5% of the children. We estimated that the prevalence of BHS among children living in Southern Turkey is 3.8%. Show more

Keywords: Breath holding spells, prevalence, children

DOI: 10.3233/JPN-140653

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 137-139, 2014

Authors: Sidhom, Youssef | Benrhouma, Hanene | Kraoua, Ichraf | Drissi, Cyrine | Rouissi, Aida | Turki, Ilhem | Ben Hamouda, Mohamed | Gouider-Khouja, Neziha

Article Type: Research Article

Abstract: Mycoplasma pneumoniae is a common cause of respiratory tract infection. Extra-pulmonary complications of M. pneumoniae infection include neurologic complications involving the central nervous system. Myelitis is one of the most severe complications of central nervous system. We report a unique case of acute transverse myelitis associated with M. pneumoniae infection in a 3-year-old boy with particular imaging and clinical course features. Intravenous corticosteroids were prescribed with an 8 wk tapering of oral …corticosteroids resulting in full recovery. We postulate an immune-mediated mechanism. Show more

Keywords: Acute transverse myelitis, Mycoplasma pneumoniae, child, treatment

DOI: 10.3233/JPN-140654

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 141-143, 2014

Authors: Grandhe, Sirisha | Marcus, Jacqueline F. | Singhal, Nilika Shah | Gardner, Marisa | Waubant, Emmanuelle L.

Article Type: Research Article

Abstract: Mycoplasma pneumoniae is a bacterium which frequently causes respiratory symptoms but may present neurological complications. We report two cases of pediatric patients with acute transverse myelitis as a complication of silent infection with M. pneumoniae. To our knowledge, these are two unique cases in which respiratory symptoms did not appear prior to onset of neurological complications. We believe that clinicians may need to reevaluate the existing diagnostic protocol of acute transverse myelitis and routinely …consider M. pneumoniae as a potential etiology. Show more

Keywords: M. pneumoniae, acute transverse myelitis, children

DOI: 10.3233/JPN-140655

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 145-149, 2014

Authors: Sharma, Alok | Gokulchandran, Nandini | Sane, Hemangi | Bhovad, Pradnya | Biju, Hema | Shetty, Akshata | Kali, Mrudula | Badhe, Prerna

Article Type: Research Article

Abstract: Cell therapy offers a promising premise in alleviating complex neurological disorders. Autologous bone marrow mononuclear cells (BMMNCs) have been used in many studies and have been documented to have a safe and ethical profile. These cells have shown angiogenetic and immunomodulatory properties in addition to other neuroprotective effects. Precisely, these may serve to address a disorder at a neurophysiological level and thus, hold gratifying results in autism. The literature suggests hypoperfusion and immune alteration …as major underlying pathogenetic mechanisms in autism. Herewith, we present a case of autism treated with intrathecal administration of autologous BMMNCs. Results were documented objectively on Indian Scale for Assessment of Autism (ISAA), Childhood Autism Rating Scale (CARS), Clinical Global Impression (CGI) scores and positron emission tomography computerized tomography (PET-CT) scan. On regular follow-up assessment of the patient at 3 mo, at 6 mo (pre 2nd dose) and at 9 mo (i.e., 3 mo post 2nd dose), significant clinical improvement was noted in social relationship, communication and behavior. On the outcome measure, his ISAA score improved from 132 (moderate autism) to 103 (mild autism). On comparison of the PET-CT scan, changes in metabolism correlated with the clinical improvements. On the CGI scores, he showed improvement in all the three domains, with a decrease in the severity of illness and with partial remission of symptoms. This case provides a useful insight into the clinical effects of autologous BMMNCs in autism and guides us to plan future studies and offers a promising premise in alleviating complex neurological disorders. Show more

Keywords: Autism, autologous, bone marrow, stem cells, stem cell therapy, mononuclear cells

DOI: 10.3233/JPN-140656

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 151-156, 2014

Authors: Hashemi, Bita | Branson, Helen M. | Moharir, Mahendranath | Yoon, Grace

Article Type: Research Article

Abstract: Oral-facial-digital syndrome type 1 (OFD1; OMIM#311200) is a rare developmental disorder characterized by craniofacial, oral, skeletal abnormalities, cystic kidneys and neurological involvement including mental retardation. The syndrome is caused by mutations in the OFD1 gene and results in male lethality in the first or second trimester. The spectrum of phenotypes associated with mutations in OFD1 continues to expand, and genotype-phenotype correlations are beginning to be recognized. The spectrum includes Simpson-Golabi-Behmel syndrome type …2 (OMIM#300209) and X-linked Joubert syndrome (type 10) phenotype in addition to the classical OFD1 phenotype with early male lethality. We describe the neuroimaging and clinical findings in a 17-year-old male with a clinical diagnosis of Joubert syndrome associated with a novel mutation in the OFD1 gene (type 10). Our patient confirms the reported association of OFD1 mutation with X-linked recessive Joubert syndrome. This family is the fifth reported with X-linked Joubert syndrome, associated with a novel mutation in exon 17 of the OFD1 gene. We describe unique neuroimaging and clinical features associated with OFD1 mutations and highlight the utility of advanced neuroimaging techniques in characterizing the phenotype. Show more

Keywords: OFD1, X-linked Joubert syndrome, ciliopathy, Simpson-Golabi-Behmel syndrome

DOI: 10.3233/JPN-140657

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 157-160, 2014

Authors: Menon, Deepa U. | Garg, Aayushi | Chedrawi, Aziza K. | Pardo, Carlos A. | Johnston, Michael V.

Article Type: Research Article

Abstract: A previously healthy and developmentally normal 5-year-old boy from Saudi Arabia presented with a 3 mo history of abnormal behavior in the form of hyperactivity, decreased social engagement, episodic aggressiveness, decreased cognitive performance in school, inappropriate laughter and talking to himself, insomnia, tics and other stereotyped behaviors. His clinical neurological examination did not reveal any focal neurological deficits, but a prolonged electroencephalogram showed non-specific slowing over the right hemisphere. A diagnosis of …encephalopathy was entertained, and he underwent testing for infectious, toxic, metabolic and mitochondrial disorders. Magnetic resonance imaging of the brain and cerebrospinal fluid studies were all normal. However, a comprehensive evaluation of paraneoplastic antibodies from cerebrospinal fluid demonstrated the presence of antibodies against the alpha-3 subunit of the neuronal nicotinic acetylcholine receptor, a finding also documented by tests from two different laboratories. An extensive diagnostic investigation that included a fludeoxyglucose-positron emission tomography scan for malignancies showed negative results. The patient was treated with plasmapheresis treatments (five exchanges) that resulted in a significant improvement in his clinical picture. Following his initial treatments, the patient continued to receive monthly infusions of intravenous immunoglobulin. An evaluation at 5.5 mo after initiation of first treatment revealed a considerable improvement of his behavior and language abilities. The patient returned to his school where he has performed satisfactorily. To our knowledge, this is the first report of a child who developed sub-acute cognitive and neurobehavioral regression in association with the presence of a serum antibody to a neuronal ganglionic nicotinic acetylcholine receptor and who improved after immunotherapy. Show more

Keywords: Neuronal nicotinic acetylcholine receptor antibody, paraneoplastic neurological disorder, encephalopathy, plasmapheresis

DOI: 10.3233/JPN-140658

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 161-166, 2014

Authors: . Gowda, Vykuntaraju K | Vignesh, Sukanya | V. Madivala, Bhaskar | Mamatha, | Prahalad Kumar, | Premalatha Ramaswamy and, | Sarala H. Gowda,

Article Type: Research Article

Abstract: Vanishing white matter (VWM) disease is a rare leukoencephalopathy. Normal development in early childhood with regression of milestones after trauma or infection is typical clinical presentation. We are reporting a child with atypical VWM disease. A 1.5-year-old female child presented with fever followed by altered sensorium and convulsions following first booster dose of diphtheria pertussis tetanus vaccination. Her development was normal till 1 yr of age. Her weight and head size were below 3 standard deviations. …She had hepatosplenomegaly. Her routine investigations including cerebrospinal fluid examination were normal. Magnetic resonance imaging (MRI) of brain shows diffuse white matter signals changes (hyperintensity on T2-weighted and hypointensity on T1-weighted images) involving the subcortical "U" fibers sparing basal ganglia. MRI shows diffuse white matter hyperintensity on T2-weighted images with areas of low signal on fluid-attenuated inversion recovery, close to the signal of cerebrospinal fluid. Based on MRI findings we diagnosed as VWM disease. Show more

Keywords: Vanishing white matter disease, whole cell DPT vaccine, hepatosplenomegaly, microcephaly

DOI: 10.3233/JPN-140659

Citation: Journal of Pediatric Neurology, vol. 12, no. 3, pp. 167-170, 2014