Journal of Pediatric Neurology - Volume 2, issue 4

Authors: Gordon, Neil

Article Type: Other

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 177-178, 2004

Authors: Vorsanova, Svetlana G. | Iourov, Ivan Y. | Yurov, Yuri B.

Article Type: Research Article

Abstract: Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Despite the fact that this disease has been studied for more than 20 years the problem of genetic and epigenetic factor involvement in the pathogenesis of RTT is not completely solved. In the present review we describe the contemporary knowledge of neurological, genetic and epigenetic features of RTT. We propose that subsequent studies of RTT should …be targeted to reveal genotype-phenotype correlations taking into account the pathogenic effect of MECP2 mutations as well as X chromosome inactivation. We also suggest that additional investigations of epigenetic phenomena in cells with MECP2 mutations are needed in order to describe the complex interaction of genetic and epigenetic processes that leads to the myriad clinical manifestations of RTT. (J Pediatr Neurol 2004; 2(4): 179–190). Show more

Keywords: Rett syndrome, MECP2 mutations, X chromosome inactivation, genotype-phenotype correlations

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 179-190, 2004

Authors: Verrotti, Alberto | Latini, Giuseppe | Cicioni, Paola | Felice, Claudio De

Article Type: Research Article

Abstract: Seizures are very frequent in neonatal period. A seizure is an abrupt alteration in neurological function of the newborn and it can be due to many different causes. There are new pathogenetic hypothesis that try to clarify the mechanism of neonatal sizures. Leaving aside new four classical types of neonatal seizures (subtle, clonic, tonic, myoclonic), new clinical forms have been recently identified: benign idiopathic neonatal convulsion (fifth day fist), benign familial neonatal convulsion, early epileptic …encephalopathy with suppression burst (Ohtahara syndrome); early myoclonic epileptic encephalopathy. Finally, there are some open issues about the treatment and the prognosis of neonatal seizures. This review summarizes current knowledge regarding pathophysiology, treatment and prognosis of neonatal seizures. (J Pediatr Neurol 2004; 2(4): 191–197). Show more

Keywords: neonatal seizures, prognosis, treatment, electroencephalography

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 191-197, 2004

Authors: Saneto, Russell P. | Kotagal, Prakash | Rothner, A. David | Baker, Jill | Kotagal, Laura L.

Article Type: Research Article

Abstract: We retrospectively identified 46 children and adolescents with partial epilepsy, who failed prior treatment with phenytoin, carbamazepine, phenobarbital and/or primidone. All patients were subsequently treated with valproate (VPA). Outcome measurements were stratified into seizure type, simple partial seizures (SPS), complex partial seizures (CPS) or secondarily generalized seizures (SGS), or lesions detected by magnetic resonance images (MRI). The majority of the patients had a ≥ 75% reduction of seizure frequency. Complete seizure freedom …was achieved in 7 (15%) patients. "Worthwhile" seizure reduction, defined as ≥ 75% decrease (but < 100%) in seizure activity, was found in 30 (65%) patients. VPA was efficacious in SPS (2/2), CPS (9/12) and SGS (26/32) patients. Patients with MRI lesions of vascular insult (6/6), mesial temporal lobe sclerosis (8/10), or malformation of cortical development (6/7) had a higher response percentage than those patients with normal MRI findings (11/15) and tumors (5/7). Although the numbers of patients used in this study were too small for statistical significance, our results suggest that VPA is a useful medication for previous medication failures in childhood partial seizures across seizure types as well as MRI lesions. There is some suggestion that a higher percentage of patients with MRI lesions may respond favorably to VPA than patients with non-lesional partial seizures and tumors. (J Pediatr Neurol 2004; 2(4): 199–203). Show more

Keywords: partial seizures, valproic acid, children, magnetic resonance imaging, anti-epileptic medication

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 199-203, 2004

Authors: Gadoth, Natan | Mass, Eliyah

Article Type: Research Article

Abstract: Although self-mutilation (SM) is not rare in the general population, the most common causes for this mode of destructive behavior are mental retardation and psychiatric ailments. There are 2 types of neuropathies with mutilation, those with spontaneous mutilation of tissues and the others in which the patients mutilate themselves. A number of hereditary disorders are associated with SM. Among the eight MIM (Mendelian Inheritance in Man) entries associated with SM, there are four conditions, which are …associated with peripheral neuropathy (choreo-acanthocytosis,.acanthocytosis with neurological impairment, congenital insensitivity to pain with anhydrosis and the paroxysmal neuropathy of type I tyrosinemia). The other four (Tourette syndrome, Lesch-Nyhan syndrome, Lesch-Nyhan phenotype with normal hypoxanthine guanine phosphoribosyle transferase and Cri-du-chat syndrome) are not associated with peripheral neuropathy. It is quite surprising that in the latest editions of the classical textbooks of pediatrics, pediatric neurology and adult neurology SM is mentioned only with regard to Lesch-Nyhan syndrome. In this paper, we describe our experience with a number of hereditary mutilating neuropathies and review some of the recent advances in the neurobiology of SM. The recognition and awareness of this outstanding clinical sign may be helpful in reaching a correct diagnosis and offering symptomatic treatment, to avoid potential tissue damage at an earlier stage of the disease. (J Pediatr Neurol 2004; 2(4): 205–211). Show more

Keywords: hereditary neuropathy, self-mutilation, familial dysautonomia

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 205-211, 2004

Authors: Gilhuis, H. Jacobus | Brouwer, Oebele F. | Verrips, Aad | Zwarts, Machiel J.

Article Type: Research Article

Abstract: Peripheral neuropathy in patients with merosin-negative congenital muscular dystrophy (MN-CMD) has been sporadically investigated and has been considered to be motor and demyelinating in nature on the basis of nerve conduction studies. We performed neurophysiologic studies in 12 children with MN-CMD to establish the spectrum and evolution of peripheral nervous system involvement. In our patients, nerve conduction studies for both motor and sensory nerves were near normal in the children younger than six months and …abnormal in the older children. The older children had the relatively slowest nerve conduction velocities suggesting a progressive, age-related dysmyelinating neuropathy. We hypothesize that the findings are due to a myelination arrest as a result of insufficient synthesis and maintenance of the peripheral myelin sheath. (J Pediatr Neurol 2004; 2(4): 213–218). Show more

Keywords: merosin-negative congenital muscular dystrophy, peripheral nervous system

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 213-218, 2004

Authors: Araújo, Alexandra P. de Q. C. | Couglan, Suzie | Hall, William W.

Article Type: Research Article

Abstract: To investigate the role of cytomegalovirus (CMV) infection in the pathogenesis of peripheral neuropathy in children with acquired immunodeficiency syndrome (AIDS) a cross-sectional descriptive study was conducted on a sample of nine children. Plasma samples were tested for CMV DNA by two polymerase chain reaction assays (sensitivity limits of 400 and 10 copies/mls) respectively. While all nine were CMV seropositive all were negative for viremia in both assays. CMV would appear not to be involved in …children with AIDS-associated sensory neuropathies. (J Pediatr Neurol 2004; 2(4): 219–223). Show more

Keywords: cytomegalovirus, peripheral nervous system disease, child, HIV

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 219-223, 2004

Authors: Sharma, Mehar C. | Prentice, Anibal | Schmidt, Peter F. | Sharma, Naresh | Goebel, Hans H.

Article Type: Research Article

Abstract: Macrophagic myofasciitis (MMF) is a rare inflammatory myopathy which occurs after injection of aluminium-containing vaccines against hepatitis B virus (HBV), hepatitis A virus, and tetanus toxoid. Most of the cases reported are from France and are adult patients. We report a rare case of MMF in a 3-month-old male child of Indian origin. He was immunized for HBV at birth after which he developed generalized hypotonia, and central nervous system and peripheral nervous system manifestations at …1 month of age. Muscle biopsy showed typical features of MMF and aluminium could be detected in the muscle biopsy macrophages by ultrastructural examination and LAMMA technique. Our case is the youngest case of MMF and one of few from Asia. (J Pediatr Neurol 2004; 2(4): 225–229). Show more

Keywords: macrophagic myofasciitis, inflammatory myopathy, vaccine, aluminium, child

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 225-229, 2004

Authors: Kendirli, Tanıl | Ünal, Özlem | İleri, Talia | Ertem, Mehmet | Sphakova, Natalia | Deda, Gülhis | Ekim, Mesiha

Article Type: Research Article

Abstract: We report a successful outcome on recurrent hyponatremic seizures, treated with agressive sodium replacement therapy in a 12-year-old girl with sickle cell anemia. The cause of her hyponatremia was probably tubular damage due to vaso-occlusive crisis. We achieved rapid correction in neurologic findings, serum sodium level and urinalysis with sodium replacement and fluid therapy in this patient. We excluded stroke based on the findings in cranial magnetic resonance imaging. We conclude that severe seizures found in …sickle cell anemia may result from hyponatremia that can be treated by sodium replacement therapy. (J Pediatr Neurol 2004; 2(4): 231–233). Show more

Keywords: prolonged seizure, hyponatremia, sickle cell anemia Introduction Sickle

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 231-233, 2004

Authors: Kotil, Kadir | Akçetin, Mustafa Ali | Güzel, Necmettin | Bilge, Turgay

Article Type: Research Article

Abstract: Spinal arachnoid cysts are relatively uncommon, they may be either intra- or extradural, among them the intradural spinal arachnoid cysts are less common. The authors report a patient with this rare lesion, in whom an anterior spinal intradural arachnoid cyst was associated with thoracic split cord malformation type I (diastematomyelia) and tethering of cord. The cyst was located anterior to the thoracic spinal cord. Our patient was an 8-year-old child who presented with progressive paraparesia. The …presence of an intradural anterior arachnoid cyst was detected on magnetic resonance imaging. Surgical treatment was performed on all three lesions during the same sitting. Complete surgical excision of the cyst was the best choice of treatment with simultaneous treatment of the associated anomalies. The most important advantage of handling all three distinct lesions in one sitting, is that he was operated during a single exposure anaesthesia, which remains an important consideration in a child. The surgical treatment carried out and review of pertinent literature is being presented here. (J Pediatr Neurol 2004; 2(4): 235–239). Show more

Keywords: arachnoid cyst, spinal cord, diastematomyelia, tethered cord

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 235-239, 2004

Authors: Yılmaz, Nebi | Kıymaz, Nejmi | Yılmaz, Cahide | Çaksen, Hüseyin | Yuca, Sevil Ar

Article Type: Research Article

Abstract: In general, treatment of hydrocephalus requires the application of a ventriculo-peritoneal shunt. Despite the peritoneal cavity being convenient for absorption of cerebrospinal fluid, multiple complications related to the shunt tends to develop within this area. The most frequent complications are abdominal. A rare complication can occurs with perforation of the organs located in peritoneal cavity by the catheter when infection occurs. Here we report two cases (because of unusual presentation) of shunt complication, they …were operated for hydrocephalus. Acute traumatic anal protrusion of the peritoneal catheter occurred in the first case while a spontaneous anal protrusion during follow-up period, in the second case. The predisposing factors were thought to be previous abdominal infection and the use of trocar during operation in the first case and chronic irritative effect of the ventriculo-peritoneal catheter in the second case. (J Pediatr Neurol 2004; 2(4): 241–244). Show more

Keywords: ventriculo-peritoneal shunt, complication, hydrocephalus, anal protrusion

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 241-244, 2004

Authors: Ödemi, Ender | Türkay, Sadi | Tunca, Ayşe | Karada, Ahmet

Article Type: Other

Citation: Journal of Pediatric Neurology, vol. 2, no. 4, pp. 245-246, 2004