Journal of Pediatric Neurology - Volume 9, issue 3

Authors: Ucchino, Valentina | Fusco, Carlo | Frattini, Daniele | Giustina, Elvio Della

Article Type: Research Article

Abstract: This is a report of a child with the 47,XYY karyotype and bilateral high-intensity focal lucencies in the periventricular white matter upon magnetic resonance imaging. We discuss the significance of these findings with respect to possible etiologies, and conclude that they may be characterized as giant perivascular spaces. To our knowledge, this is the first demonstration of giant perivascular spaces concurrent with the aberrant 47,XYY karyotype. Evidence of large perivascular spaces in children requires particular caution …because they could cause obstruction of the cerebrospinal fluid outflow. Although giant perivascular spaces may be found in inflammatory brain disease, perivascular myelin pathology or obstruction of lymphatic drainage, extended clinical and laboratory investigation and a detailed chromosomal analysis are always recommended when this rather frequent neuroradiological finding is encountered in children. Show more

Keywords: 47, XYY karyotype, XYY syndrome, chromosomes, Virchow-Robin spaces, leukodystrophy

DOI: 10.3233/JPN-2011-0493

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 359-363, 2011

Authors: Rana, Kamer S. | Chauhan, Lokesh | Sharma, Mukti | Kumar, Yogesh | Singh, Giriraj

Article Type: Research Article

Abstract: Locked-in syndrome (LIS) is one of the ventral pontine syndromes and is rare in childhood. The commonest cause in adults is basilar artery stroke. Central nervous system tuberculosis causing LIS is extremely rare. We present a case of a 7-year-old boy who presented with classical LIS due to tubercular meningitis with magnetic resonance imaging findings suggestive of demyelination in the midbrain, cerebral peduncles and posterior superior pons bilaterally. Over the following months, he showed remarkable recovery …and was able to walk without assistance, feed himself, and speak. Show more

Keywords: Locked-in syndrome, tubercular meningitis

DOI: 10.3233/JPN-2011-0491

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 365-368, 2011

Authors: Rajput, Dinesh K. | Srivastav, Arun K. | Tiwari, Ravi K. | Kawal, Priyanka | Kumar, Raj | Mahapatra, Ashok K.

Article Type: Research Article

Abstract: Intramedullary spinal cord abscesses are uncommon lesions. Forty percent of all such abscesses occur before 20 yr of age. Patients with acute onset of symptoms and signs have a graver prognosis. This generally occurs in the setting of systemic bacteremia. A case of large intramedullary spinal cord abscess extending up to the terminal spinal canal in a 6-month-old male baby who developed flaccid paraplegia without an evidence of systemic infection or septicemia or anatomical defect is …reported. The possibility of infection of an epidermoid in such cases cannot ruled out. Show more

Keywords: Intramedullary, infections, abscess, lesions

DOI: 10.3233/JPN-2011-0489

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 369-372, 2011

Authors: Wan, David Q. | Pearlman, Michael L. | Barron, Bruce J. | Supsupin, Emilio P. | Hochhauser, Leo

Article Type: Research Article

Abstract: We present a 14-year-old female patient with a 2 yr history of positional headache secondary to spontaneous diffuse cerebrospinal fluid (CSF) leaks. We treated the leak with an epidural blood patch which was radioactively labeled by a well-established nuclear medicine technique. Because spontaneous CSF leaks were frequently multifocal or diffuse throughout the spine, the extent of coverage or distribution of an epidural patch was generally determined by best estimate. Traditional radiographic contrast media mixed with …the blood cells had been used to monitor the patch coverage and it is questionable whether the contrast can be representative of the cell distribution. We applied a nuclear medicine technique to label the autologous red blood cells to monitor the range of spinal cord coverage of each epidural patch. After two visible epidural patches covered both the lumbar and thoracic spine, computed tomography myelogram demonstrated significantly decreased leakage when compared to the pre-patch images. However, the patient's symptoms remained essentially unchanged in the long term, which is consistent with refractory spontaneous CSF leaks. We believe that this sophisticated nuclear medicine blood labeling technique is a simple and accurate way to monitor the true cell coverage of the spine and the pattern of distribution. Show more

Keywords: Spontaneous CSF leaks, radionuclide tagged red blood cells, epidural blood patch

DOI: 10.3233/JPN-2011-0488

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 373-377, 2011

Authors: Subinay, Mandal | Mandal, Subinay

Article Type: Research Article

Abstract: The exstrophy-epispadias complex comprises a spectrum of congenital abnormalities that includes classic bladder exstrophy, epispadias, cloacal exstrophy, and several variants. Each of these anomalies is thought to result from the same embryologic defect. Herein, we are reporting a case of cloacal exstrophy with spinal dysraphism, imperforate anus, severe lower limb defects, agenesis of left kidney and isolated levocardia with situs inversus.

Keywords: Exstrophy, cloaca, spinal dysraphism, situs inversus, split-foot, imperforate anus

DOI: 10.3233/JPN-2011-0487

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 379-382, 2011

Authors: Harrison, Matthew L. | Liggin, Rebecca L.

Article Type: Research Article

Abstract: This report describes a case of infant botulism in a 4-month-old exclusively breast- fed female. The time from onset of symptoms to diagnosis was protracted, so the patient was not administered botulinum immune globulin. No source of exposure was identified. She eventually recovered with mild residual deficits.

Keywords: Infant botulism, Clostridium botulinum, botulinum immune globulin, botulinum toxin, neuroparalytic syndrome, breast milk, dysautonomia, dysphagia, Clostridium butyric, Clostridium baratii, honey

DOI: 10.3233/JPN-2011-0497

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 383-386, 2011

Authors: Chabchoub, Imen | Maalej, Bayan | Belguith, Neila | Chaabouni, Mariam | Mansour, Lamia Ben | Mahfoudh, Khaireddine Ben | Kamoun, Thouraya | Chaabouni, Habiba | Mnif, Jamel. | Hachicha, Mongia

Article Type: Research Article

Abstract: Miller-Dieker syndrome (MDS) is a gene deletion syndrome. It includes severe lissencephaly and a characteristic phenotypic appearance. Children with MDS also suffer from severe mental retardation, growth delay, epilepsy and occasionally hypsarrythmia on electroencephalogram. This disorder is invariably fatal in early childhood. Here, we report a new case of MDS associated with refractory atypical infantile spasms and severe mental retardation in a 3-year-old Tunisian boy. We emphasise the importance of prenatal diagnosis …to avoid the recurrence of this severe handicap, particularly in the case of a familial reciprocal translocation. Show more

Keywords: Miller-Dieker syndrome, classical lissencephaly, developmental delay, infantile spasms, atypical hypsarrythmia, deafness, FISH, 17p13.3, prenatal diagnosis

DOI: 10.3233/JPN-2011-0490

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 387-390, 2011

Authors: Chandratre, Saleel R. | Goddard, Tony | Morton, Richard | Whitehouse, William P.

Article Type: Research Article

Abstract: We report a case of a child who suffered a left hemisphere arterial ischemic stroke due to basilar artery occlusion. He was treated with intra-arterial recombinant tissue plasminogen activator at six and a half hours after the onset of hemiparesis. There were no complications and he showed rapid neurological and neuroimaging improvement. Where facilities allow rapid assessment at a combined adult and pediatric neurosciences facility, intra-arterial recombinant tissue plasminogen activator should be considered, …especially for posterior circulation thrombosis. Show more

Keywords: Child, basilar occlusion, arterial ischemic stroke, thrombolysis

DOI: 10.3233/JPN-2011-0483

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 391-396, 2011

Authors: Aylward, Shawn C. | Gilbert, Donald L.

Article Type: Research Article

Abstract: Benign familial neonatal seizures is an autosomal dominant disorder characterized by generalized tonic-clonic or partial seizures beginning in the first three days of life. There have been two variants identified with defects in potassium channels, KCNQ2 and KCNQ3. We present a case of a 2-day-old male admitted with seizures. Upon obtaining a family medical history, it was discovered that there was a multigenerational history of neonatal seizures on the paternal side beginning at 3 days of …life. The child underwent a full sepsis workup, magnetic resonance imaging, and interictal electroencephalography. He was discharged on levetiracetam at the parent's request for a non-sedating medication, only to be re-admitted 36~hr later for continued seizures. He was eventually well controlled on phenobarbital, suggesting that levetiracetam may not be the optimal treatment for this condition. Show more

Keywords: Benign neonatal epilepsy, benign familial neonatal seizures, KCNQ2, KCNQ3, levetiracetam, phenobarbital, fosphenytoin

DOI: 10.3233/JPN-2011-0498

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 397-399, 2011

Authors: Strader, Scott | Benson, Rebecca | Joshi, Charuta

Article Type: Research Article

Abstract: In this article, we report a novel, unreported SCN1A mutation in a 3-year-old girl with Dravet syndrome. She has an insertional mutation of an adenine nucleotide immediately adjacent to base pair 1566 in exon 10, resulting in a premature stop codon at amino acid 524. We review the current literature on Dravet syndrome, also known as severe myoclonic epilepsy in infancy.

Keywords: Epilepsy, myoclonic, infantile

DOI: 10.3233/JPN-2011-0480

Citation: Journal of Pediatric Neurology, vol. 9, no. 3, pp. 401-403, 2011

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