Journal of Pediatric Neurology - Volume 3, issue 2

Authors: Gadoth, Natan

Article Type: Other

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 71-72, 2005

Authors: Gordon, Neil

Article Type: Research Article

Abstract: As so often in uncommon syndromes difficulties in diagnosis are a problem, especially when symptoms are strange and suggest a psychiatric disorder. Such an example is the Kleine-Levin syndrome. It occurs mainly during adolescence, and may last for a number of years, but the prognosis for most patients is excellent. The symptoms are described, especially the triad of episodes of hypersomnia, compulsive food intake and abnormal behavior; and also the signs of autonomic dysfunction. The unusual …symptoms can lead to social withdrawal and inter-episodic morbidity. In addition there may be evidence of long-term effects such as impaired recent memory. Investigations are likely to be negative, except for the electroencephalogram, which can be abnormal; especially during sleep. The differential diagnosis is discussed, particularly from other sleep disorders, and from psychiatric conditions. The definite cause of the syndrome is not known, but a disturbance of diencephalic function can explain the symptoms, and they have been recorded after injury to this part of the brain. There may well be a primary disturbance in the balance of neurotransmitters. Treatment with a variety of drugs has been tried, and the response to lithium has been the most encouraging. Show more

Keywords: Kleine-Levin syndrome, symptoms, causes, treatment

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 73-76, 2005

Authors: Kułak, Wojciech | Sobaniec, Wojciech | Sołowiej, | Boćkowski, Leszek

Article Type: Research Article

Abstract: The aim of this study was to determine if there is any association between the findings of somatosensory evoked potentials (SEPs), magnetic resonance imaging (MRI) findings and the severity of motor deficits and cognitive impairments in children with spastic cerebral palsy (CP). The present study included 15 children with spastic diplegia and five children with spastic hemiplegic, and 42 healthy children as controls. SEPs were recorded in the CP children and compared with healthy controls. All …MRI scans were obtained using a 1.5 T MRI scanner. A significant difference of N13-N20 conductions (SEPs) was found between the subjects with CP and the control group. SEPs were positively correlated with mental retardation in CP children. The brain lesions in MRI showed a significant correlation with the CP severity scores and mental retardation. Show more

Keywords: cerebral palsy, magnetic resonance imaging, somatosensory evoked potentials

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 77-82, 2005

Authors: Kaindl, Angela M. | Steinberger, Daniela | Heubner, Georg | Müller, Ulrich | Blau, Nenad | Neubert, Kerstin | Kunath, Bernhard | von der Hagen, Maja

Article Type: Research Article

Abstract: Autosomal dominant dystonia with diurnal variation, also known as DOPA-responsive dystonia (DRD, Segawa syndrome; MIM#128230), can be caused by mutations in the GTP cyclohydrolase I gene GCH1 on chromosome 14q22.1-q22.2. Reports on patients with thoroughly characterized DRD phenotypes and GCH1 mutations have disclosed marked phenotypic variability. Here, we report on five patients of two unrelated families with DRD and heterozygous nonsense (c.181G > T) or heterozygous splice site mutations (IVS5 + 3insT) of GCH1. Symptoms …reported by these patients include gait abnormality, foot deformity, torticollis, muscle weakness, muscle cramps, myalgia, tremor, depression, and attention deficit. The severity of symptoms varied from mild involvement with good response to levodopa to severe dystonia with marked gait disturbances and only incomplete amelioration of symptoms upon levodopa treatment. The affected parent of each index patient had been misdiagnosed with a psychiatric and/or neurological disorder; the correct diagnosis was assigned only after the diagnosis of DRD had been established in their children. Our report adds further features to the phenotype of DRD caused by GCH1 gene mutations. Show more

Keywords: DOPA-responsive dystonia, Segawa syndrome, levodopa

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 83-87, 2005

Authors: Cersósimo, Ricardo Oscar | Caraballo, Roberto Horacio | Buompadre, María Celeste | Fejerman, Natalio

Article Type: Research Article

Abstract: X-linked infantile spasms associated with mental retardation have been recognized as a syndrome with an identified gene: ARX. We report a family with eight affected males. Mental retardation was present in all, seven also had epilepsy. In the index case, onset took place in the form of West syndrome. The index case was a boy now six years of age, born from healthy non-consanguineous parents who started at age one month with focal seizures associated with …fever. His younger brother had a similar onset. We were not able to examine the other affected males of the family and diagnosis of their type of epilepsy could not be defined. In the first case, the electroencephalogram (EEG) at one month showed slow waves in fronto-temporal regions. Laboratory and imaging studies were normal. Clusters of epileptic spasms with hypsarrhythmia in the EEG appeared at six months of age. The spasms were refractory to treatment. Psychomotor development was severely delayed thereafter. His younger brother also started with focal seizures at one month of age, but a few months later he presented frequent myoclonic seizures associated with generalized spike and spike-wave paroxysms on the EEG. His laboratory work-up and brain imaging were also normal and his seizures have remained refractory to antiepileptic drugs. This child was also mentally retarded. Apparently, there are various phenotypes of epilepsy associated with mental retardation in males in this family. However, our index case seems to have a disease compatible with the diagnosis of X-linked West syndrome. Show more

Keywords: west syndrome, X-linked, epileptic spasms, hypsarrhythmia, mental retardation

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 89-93, 2005

Authors: Iscan, Akin | Kurul, Semra | Dirik, Eray

Article Type: Research Article

Abstract: We aimed to define clinical characteristics and laboratory findings of tuberous sclerosis in 17 patients. Age at presentation varied from 5 days to 13 years. Male to female ratio was 10/7. Genetic transmission was documented in 23.5% of cases. The most frequent presentation of the disease, hypomelanotic macules were seen in 94.1% (clinically visible in 15 subjects and visible with Wood's light in 1 subject). Amongst skin manifestations facial angiofibromas were seen in 41.2%, forehead plaque …in 5.9%, Shagreen patches in 23.5%. Brain involvement was documented in 94.1% of cases: subependymal nodules in 94.1%, cortical tubers in 76.5%. Seizures occured in 88.2% of the patients. The relative frequency of infantile spasms within all patients with symptomatic epilepsy was 26.7%. Cardiac rhabdomyoma was found in 37.5% of the patients, renal angiomyolipoma in 35.3%, retinal hamartoma in 33.3%, and hepatic angiomyolipoma in 33.3%. Up to one-half of all patients had normal intelligence and normal motor development. A large profile of neurological disability changing from a normal condition to a severe motor-mental retardation was noted in pediatric patients with tuberous sclerosis. Almost all of cases with motor-mental retardation had also epileptic seizures. The relative frequency of infantile spasms as compared with all kind of epilepsy was 26.7%. In addition to typical features of the disease several atypical manifestations such as autism, choreathetosis and hemangioma like cutaneous lesion were noted in this series. Show more

Keywords: tuberous sclerosis, children, choreathetosis, autism

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 95-102, 2005

Authors: Pascual-Castroviejo, Ignacio | Pascual-Pascual, Samual Ignacio | Garcia-Guereta, Luis | Goded, Federico

Article Type: Research Article

Abstract: We report a male infant with a small thoracic strawberry hemangioma associated with other vascular anomalies: agenesis of the left vertebral artery and hypoplasia of the left carotid artery, and an intestinal hemangioma 45 cm in length removed at 1 1/2 months of age. He also had a severe aortic arch coarctation and ductus arteriosus. He died at the age of 4 months because of cardiac decompensation after surgical correction of the aortic arch coarctation. Neuroradiological …study of the cerebral vessels and Central nervous system structures was not performed. Cardiac, aortic arch malformations and anomalies of the cerebral arteries are often associated with cutaneous hemangiomas, and all these features and may be some others define this syndrome. Show more

Keywords: cutaneous hemangioma, Pascual-Castroviejo II syndrome, PHACE, intestinal hemangioma, aortic arch coarctation, strawberry hemangioma

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 103-106, 2005

Authors: Idro, Richard | Maling, Samuel | Byarugaba, Justus

Article Type: Research Article

Abstract: Neuro-pyschiatric symptoms such as chorea, tics, and obsessive-compulsive disorders have been documented with group A, beta-hemolytic Streptococcus, Mycoplasma pneumoniae and Herpes simplex infections, presumably through autoimmune damage to basal ganglia. No such association has previously been described with parasitic infections. We present a child who developed compulsive behavior and coprolalia after recovery from cerebral malaria.

Keywords: compulsive disorder, coprolalia, cerebral malaria

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 107-108, 2005

Authors: Abuhammour, Walid

Article Type: Research Article

Abstract: La Crosse virus is an arbovirus of the California Serogroup (Family Bunyaviridae), transmitted by the "tree-hole mosquito," Aedes triseriatus. La Crosse encephalitis cases occur annually from July to October. The majority of cases are asymptomatic, only a minority (< 4%) present with symptomatic disease. The aim of this study is to analyze the clinical manifestations of two cases with severe La Crosse meningoencephalitis. The first case was a 12-year-old male, who presented with meningoencephalitis, which was …complicated by personality changes, stroke, aphasia and convulsions. The second one was a 5-year-old male, whose meningoencephalitis was complicated by recurrent seizures. Both had history of mosquito bites. Cerebrospinal fluid revealed pleocytosis with predominant polymorphonuclear leukocytes. In the first case, brain computed tomography scan and brain magnetic resonance imaging showed focal, right-sided frontal and temporal lobes cerebritis; they were normal in the second case. Electroencephalogram showed focal slowing in the first case and diffuse pattern in the second. Both had positive serology (immunoglobulin M) for La Crosse virus. Both recovered completely. Show more

Keywords: La Crosse virus, meningoencephalitis, children

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 109-112, 2005

Authors: Kendirli, Tanil | Gümüs, Derya | Öztürk, Burcu | Ince, Erdal | Deda, Gülhis | Tutar, Ercan

Article Type: Research Article

Abstract: Hemorrhagic shock and encephalopathy syndrome is a severe disease that affects previously healthy infants and associated with significant mortality and neurologic morbidity. It is characterized by sudden onset of shock, convulsion and coma, bleeding due to severe coagulopathy, fever, diarrhea, metabolic acidosis, and hepatorenal dysfunction. We report a 3-month-old boy with hemorrhagic shock and encephalopathy syndrome, who had clinical and laboratory findings consistent with myocardial injury. Severe myocardial injury was demonstrated by …elevation of cardaic troponin I and MB fraction of total kinase in this patient. Show more

Keywords: hemorrhagic shock encephalopathy syndrome, myocardial injury, cardiac troponin I

Citation: Journal of Pediatric Neurology, vol. 3, no. 2, pp. 113-116, 2005