Journal of Pediatric Neurology - Volume 9, issue 1

Authors: Moghaddasi, Mehdi | Mamarabadi, Mansoureh | Ebrahimi, Ahmad | Tonekaboni, Seyed Hassan | Zainali, Sirous | Houshmand, Massoud

Article Type: Research Article

Abstract: Dravet syndrome is a severe form of epilepsy and also is called severe myoclonic epilepsy of infancy (SMEI). It appears during the first year of life with frequent febrile seizures, fever related seizures, which is rare beyond the age of 5 years. Children with SMEI typically experience poor development of language, motor skills, hyperactivity, and difficulty in making relationship. Thirty to eighty percent of patients with Dravet syndrome, which is known as classical form of SMEI, …suffer from defects in a gene involved in proper function of brain cells. The patient is a 3-years-old girl presenting with a sudden epileptic seizure. She had 2-year history of severe myoclonic epilepsy and developmental delay that was diagnosed as Dravet syndrome. A novel missense substitution in sodium channel alpha subunit type 1 was detected and the novelty of substitution confirmed by molecular analysis in healthy family members as well as control group. As an early diagnosis, the clinical screening procedure used by pediatricians as well as a sodium channel alpha subunit type 1 mutation analysis could help to predict Dravet syndrome before 1 year of age, so the pediatricians could be able to manage clinical work-up properly. Show more

Keywords: SMEI, Dravet, SCN1A

DOI: 10.3233/JPN-2010-0452

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 115-118, 2011

Authors: Tungaria, Arun | Srivastav, Arun Kumar | Sahu, Rabi Narayan | Kumar, Raj | Mahapatra, Ashok K.

Article Type: Research Article

Abstract: Glioblastoma in young patient presenting as recurrent intracerebral hemorrhage is rare event, only few cases have been reported in world literature. Intratumoral bleeding can be the sole and first manifestation of glioblastoma in children. It is difficult to say that the events like dehydration and infection can precipitate such bleeding in tumor. It should be emphasized that possibility of tumoral bleeding should be kept in mind while evaluating young patient with spontaneous supratentorial intracranial …hemorrhage with negative angiogram and should be treated on an emergency basis. We are reporting a case of glioblastoma in a patient aged 17 years with clinical and radiological features suggestive of cortical venous thrombosis. Show more

Keywords: Glioblastoma, tumoral bleeding, children

DOI: 10.3233/JPN-2010-0451

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 119-122, 2011

Authors: Bernard, Geneviève | Chouinard, Sylvain

Article Type: Research Article

Abstract: We wish to report a pediatric case of parkinsonism secondary to radiation therapy. The patient was diagnosed at the age of 16 years with a thalamic and midbrain dysgerminoma. After partial tumor resection, the patient received chemotherapy followed by radiation therapy. Two months after the initiation of the radiation therapy, without any evidence of tumor progression on imaging, the patient developed severe parkinsonism and encephalopathy requiring intensive care unit admission. With supporting measures, his level of …consciousness gradually improved but did not return to baseline. His parkinsonism remained severe despite high doses of levodopa-carbidopa and benztropine. Ten months later, without any significant modification of his medication, the patient's parkinsonism started to improve. Over the following 8 months, the improvement was so dramatic that the anti-parkinsonism medications could be weaned then stopped. Radiation-induced parkinsonism has been described on rare occasions in both the pediatric and adult populations. Our patient is the first case of early-delayed radiation-induced parkinsonism in the pediatric population. The evolution of his neurological status is surprising; after 10 months of static post radiation encephalopathy and severe parkinsonism, we would not have expected such good neurological improvement. Show more

Keywords: Secondary parkinsonism, radiation therapy, radiation-induced parkinsonism, post radiation encephalopathy and pediatric population

DOI: 10.3233/JPN-2010-0448

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 123-126, 2011

Authors: Teber, Serap | Sezer, Taner | Kafalı, Mehpare | Deda, Gülhis

Article Type: Research Article

Abstract: Subacute sclerosing panencephalitis is almost always fatal with a varying clinical course of illness. It is characterized by slow progression and rarely manifests with a fulminant and rapid course. Atypical presentations such as generalized seizures, visual loss, hemiparesis, non-convulsive status epilepticus and isolated extrapyramidal symptoms can be observed rarely. We report an 11-year-old boy presenting with atypical symptoms initially such as complex partial seizures, chorea and electrographic status epilepticus. The patient was …lost within 5 months, which is suitable for a fulminant course. Children presenting with atypical acute or subacute neurologic symptoms should be examined for subacute sclerosing panencephalitis, especially if they have no risk factors for hereditary neurodegenerative and/or neurometabolic diseases. Show more

Keywords: SSPE, atypical presentation, chorea, non-convulsive status epilepticus

DOI: 10.3233/JPN-2010-0449

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 127-130, 2011

Authors: Gupta, Priyanka | Faridi, Mohammad Moonis Akbar | Kumar, Raj | Jain, Kapil

Article Type: Research Article

DOI: 10.3233/JPN-2010-0440

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 131-133, 2011

Authors: Flynn, Shelly

Article Type: Research Article

DOI: 10.3233/JPN-2010-0453

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 135-135, 2011

Article Type: Other

DOI: 10.3233/JPN-2010-0454

Citation: Journal of Pediatric Neurology, vol. 9, no. 1, pp. 137-139, 2011