Journal of Pediatric Neurology - Volume 2, issue 1

Authors: Shields, W. Donald

Article Type: Other

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 1-1, 2004

Authors: Gordon, Neil

Article Type: Research Article

Abstract: Specific learning disorders may well be due to loss of neurons in certain parts of the brain, or perhaps more frequently to interruption of circuits connecting one part of the brain with another; so-called non-connection and disconnection syndromes. This paper is concerned with the contribution that medical investigations can make to elucidating the localisation and causes of developmental disabilities of this type, especially of dyslexia and of disorders of language function. Brief descriptions are given …of the various techniques that can be employed; and blood flow studies and functional magnetic resonance imaging can be particularly useful in this field. Studies on children with developmental dyslexia are among the most frequent that have been carried out, and some of these are reviewed to show the kind of information that can be acquired. Such tests can not only help in the localisation of function, but also in assessing the results of remedial teaching. Then the investigation of language function is discussed in the same way, and in showing evidence of cerebral plasticity, and in giving a prognosis after vascular lesions for example. Associated disabilities, such as the attention deficit hyperactivity disorder and autism, will obviously have a profound effect on learning, and can also be investigated with these methods. The advent of these techniques holds out great possibilities of increasing our knowledge of specific learning disabilities, and although many of the advances in this field will come from psychologists and teachers, there is no doubt that medicine can make a significant contribution. (J Pediatr Neurol 2004; 2(1): 3–8). Show more

Keywords: specific learning disorders, medical investigations

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 3-8, 2004

Authors: Daoud, Azhar

Article Type: Research Article

Abstract: Febrile convulsions (FCs) are the most frequently occurring epilepsy syndrome experienced in infants/children between 6 months and 6 years of age and occur in 2–4%. It describes any seizure that occurs in response to a febrile stimulus in the absence of meningitis, encephalitis, serum electrolyte imbalance and other acute neurologic illnesses. There have been many recent reports on the molecular genetic and pathogenesis of FC. It has been recognized that there is significant genetic component for …susceptibility of FC with different reported mutation. Others have tried to correlate FC to immunologic problem through interleukin, cytokines, immunoglobulin and interferon. Also, reports on correlations between FC and iron deficiency anemia, hypozincemia or to specific infections have been published. Children having first or second degree relatives with a history of FC, neonatal nursery stay of more than 30 days, developmental delay or attendance at a day care center are at increase risk of developing FC. A single simple FC does not seem to increase the risk of epilepsy and there is no causal relationship between FC and subsequent epilepsy. Viruses are the most common cause of illness in children admitted to the hospital with a first FC. Routine laboratory studies, electroencephalogram and neuroimaging are not indicated for patients who have FC, and should be performed only as part of the evaluation for a source of fever and/or in atypical cases. Prognosis is generally good and parents should be counseled about the benign nature of FC. Children with FC are at no greater risk of intellectual impairments than their peers. Maintenance therapy to prevent recurrence has not been shown to prevent later development of epilepsy, and therefore intermittent diazepam or lorazepam are the main drugs to be used. (J Pediatr Neurol 2004; 2(1): 9–14). Show more

Keywords: febrile convulsion, review, update

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 9-14, 2004

Authors: Caraballo, Roberto H. | Cersósimo, Ricardo O. | Garro, Fernanda | Kesler, Karina | Fejerman, Natalio

Article Type: Research Article

Abstract: We report the results of patients with Down syndrome (DS) and West syndrome (WS) treated with vitamin B6 and discuss the mechanisms of pyridoxine in WS. Twenty patients with DS and WS were referred to our service for infantile spasms (IS) between February 1990 and December 2002. WS was diagnosed on the basis of clinical and electroencephalogram features. Thirteen patients were treated conservately while seven patients (four girls and three boy) were treated according to the …new alternative treatment scheme with vitamine B6. The dose of oral pyridoxine was between 200 and 400 mg/day (25–50 mg/kg/day). Five patients initiated the treatment with vitamin B6 for IS two weeks and two patients four weeks after starting to receive antiepileptic drugs. One of them, who initially received intravenous pyridoxine 200 mg/day during three days with a partial control of IS, responded well to oral vitamin B6 400 mg/day associated to valproic acid five months later. Mean age at the beginning of pyridoxine treatment was 9.5 months, ranging from 3 to 14 months. The time between the onset of spasms and vitamin B6 administration ranged from 2 to 4 weeks. Cessation of spasms was obtained within 2 weeks of treatment in four patients. Their electroencephalograms became normal as soon as the spasms disappeared. In four patients whose spasms ceased, pyridoxine was discontinued after 24 and 30 months and clinical spasms did not recur. These four children did not experienceany other type of seizure after a mean time of follow-up of 6 years (range 1–10 years) without any type of treatment. In the fifth patient, cessation of spasms was obtained within four weeks the second time she received vitamin B6, five months after the first treatment. She still receives with pyridoxine 400 mg/day (40 mg/kg/day) after twelve months of follow up and has had no spasms since. Two patients did not respond well either to pyridoxine or to vigabatrin, adrenocorticotropic hormone, valproic acid or benzodiazepines. The patients had no adverse events during treatment with pyridoxine. We consider an oral dose of 200–400 mg/day (25–50 mg/kg/day) of pyridoxine either in monotherapy or combined with classic antiepleptic drugs to be the first choice of therapy in patients with IS and DS. Furthermore, patients who initially do not respond well to pyridoxine could be treated again and for a longer period. (J Pediatr Neurol 2004; 2(1): 15–19) Show more

Keywords: Down syndrome, infantile spasms, pyridoxine, vitamin B6, West syndrome

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 15-19, 2004

Authors: Kumar, Raj | Singh, Vinita | Singh, Satya Narayan

Article Type: Research Article

Abstract: To describe the clinical parameters, radiological findings and surgical outcome of 49 cases of split cord malformation (SCM). Forty nine patients of SCM were operated between June 1989 and June 2002, at Sanjay Gandhi postgraduate institute of medical sciences, Lucknow, India out of total 155 cases of spinal dysraphism. Detailed clinical evaluation with magnetic resonance imaging (MRI), preferably craniospinal, was main tool of investigation. All patients underwent excision of bony spur or fibrous septum, …repair of associated myelomeningocele sac, when present, excision of associated spinal lesions and detethering of cord. Seven patients needed shunt operation. Patients having minimum 1½ month of follow up were included in this analysis. Mean follow-up period was 3.4 years. Female to male ratio was 1.04:1, with mean age of 4.8 years. The commonest cutaneous manifestation was hypertrichosis in 16 (32.7%) cases and among the neuro-orthopedic syndromes, most frequent were scoliosis in 16 (32.7%) and congenital talipes equino varus in 11 (22.4%) cases. The commonest clinical indicators were lower limb weakness, graded sensory loss, sphincter involvement, and autoamputation of toes and trophic ulcer in 24, 20, 14, two and four patients, respectively. Common imaging findings were low lying cord in 28, neural placode in 19, and SCM with and without meningomyelocele (MMC) sac in 20 and 29 cases, respectively. Common sites of occurrence of SCM were dorsal region in 19 (38.8%) and lumbar in 14 (28.6%) patients. Postoperative complications were cerebrospinal fluid leak, pseudomeningocele, wound infection, and meningitis in 12, eight, four and six patients, respectively. Two patients died in the postoperative period. On average follow up of 3.4 years, motor weakness improved in 10 children and remained static in 14, whereas sensory dysfunction improved in 13 and remained static in seven, and sphincteric function improved in 10 and was static in four cases. Backache dramatically relieved in both children and in all four patients, trophic ulcer completely healed. SCM cases may have association with MMC in significant number of patients hence craniospinal MRI remains the choice, as this will not only delineate complex spina bifida and cord anatomy, but also screen the entire neuraxis for other associated cranial and spinal anomalies. (J Pediatr Neurol 2004; 2(1): 21–27). Show more

Keywords: split cord malformation, spinal dysraphism, complex spina bifida

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 21-27, 2004

Authors: Mandelstam, Simone | Andronikou, Savvas

Article Type: Research Article

Abstract: The fundamental abnormality in the Sturge-Weber syndrome (SWS) is considered to be the lack of superficial cortical draining veins, which results in numerous collateral pathways of venous flow. Venous abnormalities have been described in detail using angiography but magnetic resonance imaging (MRI) has replaced angiography in the diagnosis of SWS. In this paper we aim to demonstrate the range and evolution of venous abnormalities in the SWS as seen on standard MRI sequences. Retrospective review of …16 MRI scans in a group of ten children with SWS was performed by two pediatric radiologists with emphasis on venous abnormalities. Eight patients had unilateral angiomas and five of these had ipsilateral choroid plexus hypertrophy. Two patients had bilateral angiomas both of which had bilateral choroid plexus hypertrophy. In two patients, the vein of galen was enlarged. Four children had abnormal venous structures including intramedullary veins and enlarged subependymal veins. There was evolution of the venous abnormalities in four of the five cases with follow-up imaging. Three patients had associated cerebral malformations. The predominant venous abnormalities in patients with SWS demonstrated by conventional MRI sequences included anomalous parenchymal veins. Deep venous enlargement as previously described on angiography, was an uncommon finding using MRI. Evolution of venous abnormalities was demonstrated in four of five patients who underwent follow-up examination. (J Pediatr Neurol 2004; 2(1): 29–32). Show more

Keywords: MRI, venous abnormality, venous occlusion, Sturge-Weber syndrome

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 29-32, 2004

Authors: Lingawi, Sattam S. | Arab, Nahla A. | Fahmy, Yasser Ragab

Article Type: Research Article

Abstract: To evaluate the accuracy of neuroimaging in establishing the diagnosis of Joubert syndrome. Computed tomography (CT) and magnetic resonance imaging (MRI) were performed in seven infants/children with the clinical diagnosis of Joubert syndrome. The clinical diagnoses were based on characteristic clinical features. The CT scans were performed on a single detector helical CT scans and the MRI were performed on 1-T and 1.5-T MRI systems. All studies were evaluated for the presence of cerebellar vermian …aplasia/hypoplasia, cerebellar hypoplasia, horizontal alignment of the superior cerebellar peduncle, "molar tooth" configuration of the brainstem and "bat wing" appearance of the fourth ventricle. Other neuroimaging abnormalities such as hydrocephalus, dysgenesis of the corpus callosum were also reported. Cerebellar vermian hypoplasia with a midline cleft, horizontal alignment of the superior cerebellar peduncle, "molar tooth" configuration of the brainstem and dilated fourth ventricle with "bat wing" appearance in all patients. Cerebellar hemisphere hypoplasia was seen only in three cases. Brainstem molar tooth sign, fourth ventricular bat wing sign and the horizontal orientation of the superior cerebellar peduncles are characteristic findings Joubert syndrome. (J Pediatr Neurol 2004; 2(1): 33–37). Show more

Keywords: Joubert syndrome, molar tooth sign, vermian hypoplasia

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 33-37, 2004

Authors: Kumar, Raj | Singh, Vinita | Vaish, Minal | Pal, Lily | Mittal, Balraj

Article Type: Research Article

Abstract: An 11-year-old neutropenic female child with acute lymphoblastic leukemia (ALL) developed a large right frontal mass a month following the induction of chemotherapy. A well encapsulated mass on surgical excision turned out to be aspergilloma with metastatic infiltration in frontal lobe. A genetic defect in form of microsatellite instability was also demonstrated in frontal mass. A possibility of fungal granuloma in a neutropenic child treated for ALL (on chemotherapy) remained strong on clinico-radiological evaluation. However, …the cranial involvement in ALL also amounts to be 50 to 80% in untreated children. The child under discussion had a rare manifestation of both leukemic infiltration and fungal granuloma formation. Though the microsatellite instability was demonstrated in the mass, but further genetic studies would be required to establish the role of genetic defect in evolution of such cerebral masses/leukemic deposits. (J Pediatr Neurol 2004; 2(1): 39–43). Show more

Keywords: central nervous system, fungal infections, fungal granuloma, microsatellite instability, leukemic brain infiltration

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 39-43, 2004

Authors: Ataş, Bülent | Çaksen, Hüseyin | Tuncer, Oğuz | Kırımi, Ercan | Arslan, Şükrü | Erol, Mehmet | Yuca, Sevil Ar

Article Type: Research Article

Abstract: A 10-year-old boy was admitted to hospital with a 3 month history of intermittent spasms of the wrists and ankles, and twitching of the eyelids. He also had polyuria, polydipsia, nocturnal enuresis, fatigue and constipation since he was a toddler. Physical examination revealed normal blood pressure, myokymia on the right eyelid and bilateral carpopedal spasms. Laboratory investigation revealed hypocalcemia, hypokalemia, increased plasma renin and aldosterone, hypercalciuria, metabolic alkalosis, and bilateral medullary nephrocalcinosis. …Cranial computed tomography was normal. Based on the clinical and laboratory findings he was diagnosed as having Bartter's syndrome, which is characterized by hypochloremia, hypokalaemia and metabolic alkalosis associated with potassium renal leakage, with normal blood pressure despite increased plasma renin activity. It is well known that tetany is not uncommon in the neonatal form of Bartter's syndrome and nephrocalcinosis is usually not present in the classic form. Interestingly, our patient had both the clinical manifestations of the neonatal form and of the classic form of Bartter's syndrome. In conclusion, we would like to emphasize that both the clinical manifestations of neonatal and classic forms of Bartter's syndrome (as an overlapping syndrome) might be seen in children and that Bartter's syndrome should also be considered in children with tetany as in our case. (J Pediatr Neurol 2004; 2 (1): 45–47). Show more

Keywords: nephrocalcinosis, tetany, hypocalcemia, hypokalemia

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 45-47, 2004

Authors: Yılmaz, Deniz | Sipahi, Tansu

Article Type: Other

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 49-49, 2004

Authors: Koul, Roshan | Hashim, Javed | Ahmed, Masod

Article Type: Other

Citation: Journal of Pediatric Neurology, vol. 2, no. 1, pp. 51-51, 2004