Journal of Pediatric Neurology - Volume 9, issue 3

Authors: Love, Kaitlin | Huddleston, Lillie | Olney, Pat | Wrubel, David | Visootsak, Jeannie

Article Type: Research Article

Abstract: Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expressive …language 14 mo, receptive language 9 mo. As such, it is important to determine how the DWS influences developmental outcomes, and appreciate the importance of early interventional therapy. Show more

Keywords: Down syndrome, Dandy-Walker syndrome, developmental outcomes

DOI: 10.3233/JPN-2011-0500

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 405-408, 2011

Authors: Beydoun, Ahmad | Nasreddine, Wassim | Dabbagh, Omar | Wazne, Jaafar | Arabi, Maher | Najjar, Marwan

Article Type: Research Article

Abstract: Early myoclonic encephalopathy (EME) is an epileptic encephalopathy characterized by highly refractory seizures and an overall bad prognosis. In this report, we present an infant who developed EME secondary to nonketotic hyperglycinemia. A vagus nerve stimulator inserted when the infant was 6 months and 3-weeks-old resulted in mild psychomotor improvement and in a dramatic reduction in seizure frequency documented by closed-circuit television-electroencephalography monitoring. This is the youngest infant in the literature reported …so far inserted with a vagus nerve stimulator, and the results suggest that this treatment modality is safe and can be of benefit in reducing seizures associated with EME. Show more

Keywords: Vagal nerve stimulation, early myoclonic encephalopathy, nonketotic hyperglycinemia

DOI: 10.3233/JPN-2011-0484

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 409-411, 2011

Authors: Rao, Ram Nawal | Kumar, Manoj | Rajput, Dinesh | Yadav, Kamlesh | Upadhyay, Deepika | Gupta, Archna | Kumar, Raj

Article Type: Research Article

Abstract: We report a case of thalamic mixed germ cell tumor of in a 13-year-old boy. The boy presented with headache, generalized seizures and right-sided paresis of recent onset. Computed tomography and magnetic resonance imaging revealed a mass in the left thalamus with hydrocephalus. The histopathological examination of operated mass showed an immature teratoma with large areas of germinomatous components. The predominant components of immature teratoma were composed of several types of tissue representing different …germinal layers (endoderm, mesoderm and ectoderm) and showing varying degrees of differentiation. This was diagnosed as a mixed germ cell tumor. A subgroup of tumor secretes specific tumor markers, including α-fetoprotein and β-human chorionic gonadotrophin, which may be helpful in pre-operative diagnosis. Germinomas most often occur in pineal or supraseller region but occasionally develop in highly unusual locations like the thalamus. Those presenting in unusual locations pose a diagnostic challenge. Pre-operative diagnosis, however, may change the line of management. Show more

Keywords: Thalamic tumor, mixed germ cell tumor, tumor markers

DOI: 10.3233/JPN-2011-0492

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 413-418, 2011

Authors: Myers, Chris | Brown, Jason | Arnold, Michelle G. | Arnold, John C.

Article Type: Research Article

Abstract: Facial nerve paralysis in childhood is commonly caused by acute ear infections and Lyme disease. A number of respiratory viruses have also been associated with acute facial nerve weakness. First described as a common cause of respiratory infection in 2001, human metapneumovirus has now also been associated with abnormalities of the central nervous system, such as seizures and encephalitis. We describe a case of acute facial nerve palsy in which human metapneumovirus was the only pathogen …identified, using sophisticated molecular diagnostics. Show more

Keywords: Human metapneumovirus, facial nerve palsy, rapid diagnostics, resequencing microarray

DOI: 10.3233/JPN-2011-0505

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 419-421, 2011

Authors: Carr, John Alfred

Article Type: Research Article

DOI: 10.3233/JPN-2011-0495

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 423-425, 2011