Journal of Pediatric Neurology - Volume 9, issue 2

Authors: Malhotra, Reenu K. | Florez, Luisa | White, Dollett | Papasozomenos, Sozos | Covinsky, Michael | Bhattacharjee, Meena | Wang, Min

Article Type: Research Article

Abstract: Vein of Galen aneurysmal malformations (VGAMs) are rare congenital vascular, malformation. The malformation usually develops between the 6th to 11th wk of gestation. We report three autopsy cases, all prenatally diagnosed by ultrasound or fetal magnetic resonance imaging with VGAM with associated high-output cardiac failure. Prenatal fetal echocardiogram on two patients showed cardiomegaly, ventricular dilatation, pulmonary hypertension and reversed aortic flow. The cause of death in all the three patients was high-output …cardiac failure due to VGAM. The autopsy findings confirmed feeding arteries from posterior cerebral arteries to VGAM in all patients. Other significant neuropathologic findings at autopsy were severe hydrocephalus, polymicrogyria, germinal matrix hemorrhage, periventricular leukomalacia, and microcalcification. The findings support that VGAM may be due to abnormal arterial venous communication and the most common cause of death in these patients is high-output cardiac failure. The presence of other associated brain abnormalities indicates a poor prognosis. Show more

Keywords: Vein of Galen, aneurysm, malformation, cardiac failure, diagnosis, autopsy

DOI: 10.3233/JPN-2011-0475

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 227-232, 2011

Authors: Walker, Jennifer C. | Brussel, Wim | Erasmus, Corrie E.

Article Type: Research Article

Abstract: We present a case of a boy with recurrent left-sided hemiparesis. Early magnetic resonance imaging showed features suggesting acute disseminated encephalomyelitis (ADEM). However, he deteriorated neurologically on high dose methylprednisolone. A follow-up cerebral magnetic resonance imaging showed an extensive infarction due to carotid artery dissection. Distinguishing features between ADEM and acute stroke in childhood are described, but at early stage, it might be difficult to distinguish ADEM from acute stroke.

Keywords: ADEM, carotid artery dissection, clinical phenomena, MRI, diffusion-weighted imaging

DOI: 10.3233/JPN-2011-0464

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 233-237, 2011

Authors: Karkare, Shefali | Merchant, Sabiha | Solomon, Gail E.

Article Type: Research Article

Abstract: Epileptic negative myoclonus (ENM) is an infrequent seizure type seen in association with a variety of epileptic syndromes. It has been reported to occur in benign focal epilepsies of childhood and can be worsened by a number of antiepileptic medications. Levetiracetam widely used to treat positive myoclonus in diverse clinical situations has also been reported as a therapeutic option. We report two children with partial epilepsy that demonstrated induction of ENM in one and worsening of …ENM in the second patient on levetiracetam. Show more

Keywords: Epileptic negative myoclonus, levetiracetam, child

DOI: 10.3233/JPN-2011-0461

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 239-242, 2011

Authors: Mohan, Suyash | Verma, Ashish | Sharma, Gagan | Phadke, Rajendra Vishnu

Article Type: Research Article

Abstract: We describe the case of a 4-month-old infant with evolving spontaneous thrombosis of vein of Galen malformation. It is an anomaly that occurs most often in children, with a high mortality due to the accompanying severe cardiac failure. Spontaneous thrombosis of vein of Galen malformation is rare. There are several proposed mechanisms of spontaneous thrombosis notable ones being slow flow shunts and severe obstruction of the venous outflow. The absence of blood flow at the deep …cerebral venous system due to malformation thrombosis, along with absence of signs or symptoms of intracranial hypertension led us to conservative treatment of the patient presented here. Show more

Keywords: Vein of Galen malformation, spontaneous thrombosis, transcranial ultrasound, color Doppler

DOI: 10.3233/JPN-2011-0476

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 243-246, 2011

Authors: Sinha, Rahul | John, Biju | Raju, Uma | Singh, Daljit | Sodhi, Kirandeep

Article Type: Research Article

Abstract: Congenital pain insensitivity and anhidrosis is an extremely rare disorder characterized by lack of pain sensation, painless injuries of the arms, legs and oral structures, hyperthermia during hot weather because of inability to sweat, mental retardation, infection and scarring of the tongue, lips and gums, chronic infections of bones and joints, bone fractures, multiple scars, osteomyelitis and joint deformities. We report this rare case in a 2-year-old girl who presented with recurrent episodes of high-grade fever …with anhidrosis, dry fissured skin, self-mutilation, tooth loss. She also had three episodes of generalized tonic-clonic seizure during afebrile period. This case report highlights the rare association of congenital insensitivity to pain and anhidrosis with seizure disorder. Show more

Keywords: CIPA, seizure, anhidrosis

DOI: 10.3233/JPN-2011-0470

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 247-249, 2011

Authors: Konanki, Ramesh | Sharma, Suvasini | Garg, Ajay | Gulati, Sheffali | Kabra, Madhulika

Article Type: Research Article

Abstract: A 1-year-old boy who presented with global developmental delay, spastic quadriparesis, seizures and squint with similar history in an elder sibling has been described. Magnetic resonance imaging of brain revealed features consistent with bilateral fronto-parietal polymicrogyria, which is a cerebral cortical malformation with characteristic clinical and neuroimaging findings.

Keywords: Polymicrogyria, bilateral fronto-parietal polymicrogyria

DOI: 10.3233/JPN-2011-0465

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 251-253, 2011

Authors: Değerliyurt, Aydan | Ceylaner, Gülay | Ceylaner, Serdar

Article Type: Research Article

Abstract: The XYY chromosome abnormality is a frequently encountered numerical chromosome abnormality characterized by behavioral problems, developmental retardation and average or lower than average intelligence. A strong association with epilepsy has not been reported for the XYY anomaly unlike other chromosomal abnormalities where concurrence with seizures or epilepsy has been reported in a few studies. In this manuscript, we describe a patient with XYY karyotype, mild mental retardation and epilepsy.

Keywords: Chromosome XYY abnormality, epilepsy, mild mental retardation

DOI: 10.3233/JPN-2011-0479

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 255-258, 2011

Authors: Tringler, Natalia | Flesler, Santiago | Caraballo, Roberto

Article Type: Research Article

Abstract: Opsoclonus-myoclonus syndrome (OMS) is an unusual entity of early-childhood onset characterized by variable, irregular, abnormal movements in the trunk and limbs, myoclonus, and chaotic eye movements (opsoclonus). In half of the patients, OMS presents as a paraneoplastic syndrome secondary to tumors of the neural crest (neuroblastoma), but the etiology may be multiple. OMS has been reported to occur in association with viral infections. We describe three patients with clinical features of OMS who developed paroxystic …episodes compatible with stimulus-sensitive myoclonus. The presence of these paroxysmal phenomena does not rule out OMS. We suggest that in patients with OMS the presence or absence of stimulus-sensitive myoclonus should be considered to recognize the true prevalence of these particular electroclinical events. Show more

Keywords: Myoclonus, opsoclonus, stimulus-sensitive, subcortical, syndrome

DOI: 10.3233/JPN-2011-0466

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 259-263, 2011

Authors: Kumar, Raj | Kawal, Priyanka | Mehrotra, Anant | Mahapatra, Ashok K.

Article Type: Research Article

Abstract: Astrocytomas are the most common pediatric brain tumors and account for 40.9% of cerebral and 7.7% of all childhood cancers. Here we present a 16 yr male child who was diagnosed and operated for astrocytoma (grade II) of medulla oblongata; he received radiotherapy for residual tumor postoperatively. The patient developed large anaplastic astrocytoma (grade III) in splenium of corpus callosum and bilateral parieto-occipital region after 3 yr of first operation. It seems this tumor disseminated from …brainstem, though primary site remained silent because of the effect of postoperative radiation therapy. It might have disseminated through ventricular cerebrospinal fluid pathways. Little is known about low-grade astrocytoma with dissemination and their malignant transformation to high-grade glioma. The optimum therapy or combinations of therapies for such tumors remains unclear. Few aspects of dissemination and malignant transformation of low-grade astrocytoma to high-grade or appearance of fresh tumor etc are discussed in this report. Show more

Keywords: Metastasis in glioma, malignant transformation of low-grade glioma, brain stem gliomas

DOI: 10.3233/JPN-2011-0468

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 265-269, 2011

Authors: Yanamandala, Rama | Pungavkar, Sona A. | Lawande, Malini A. | Patkar, Deepak P. | Merchant, Rashid

Article Type: Research Article

Abstract: Non-ketotic hyperglycinemia (NKH) is an uncommon metabolic disorder with an autosomal recessive inheritance due to abnormal glycine metabolism. We present the pre-therapy and post-therapy magnetic resonance imaging, biochemical and clinical features of a child with NKH with manifestation in the early neonatal period. The initial diagnosis of NKH was made on the biochemical evidence of elevated cerebrospinal fluid (CSF) glycine levels and CSF: plasma glycine ratio. Pre-therapy magnetic resonance imaging revealed thinned out …corpus callosum, intracranial hemorrhages, prominent ventricular system, few cystic changes in bilateral gangliocapsular region and abnormal T2 hyperintensities in the white matter. Magnetic resonance spectroscopy did not reveal glycine peak in our case. Post-therapy, there was clinical improvement and reduction in CSF glycine levels. In the follow up scan, myelination had progressed with residual leukomalacic changes and volume loss of white matter. Show more

Keywords: Non-ketotic hyperglycinemia, MRS, MRI, glycine

DOI: 10.3233/JPN-2011-0478

Citation: Journal of Pediatric Neurology, vol. 9, no. 2, pp. 271-275, 2011