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Biomedical subjects

R Koul

Publications and source records attributed to R Koul.

14 recordsLinked to original sources
PubMed2006

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.

BACKGROUND: Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity occurs in isolation or complicated when other neurologic abnormalities are present. At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presence of thin corpus callosum (HSP-TCC) is a common subtype of HSP. One genetic locus has been identified on chromosome 15q13-q15 (SPG11) for HSP-TCC, but some HSP-TCC families have not been linked to this locus. METHODS: The authors characterized two families clinically and radiologically and performed a genome-wide scan and linkage analysis. RESULTS: The two families had complicated ARHSP. The affected individuals in Family A had thin corpus callosum and mental retardation, whereas in Family B two of three affected individuals had epilepsy. In both families linkage analysis identified a locus on chromosome 8 between markers D8S1820 and D8S532 with the highest combined lod score of 7.077 at marker D8S505. This 9 cM interval located on 8p12-p11.21 represents a new locus for ARHSP-TCC. Neuregulin and KIF13B genes, located within this interval, are interesting functional candidate genes for this HSP form. CONCLUSION: Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11.21.

Asian People↗
PubMed2001

West syndrome: a university hospital based study from Oman.

Forty-four children (20 male: 24 female) with West syndrome (infantile spasms, mental retardation/regression and hypsarrhythmia) diagnosed at Sultan Qaboos University Hospital (Pediatric Neurology Division of the Department of Child Health) are reported, with thirty-four (77.3%) children constituting the symptomatic group. All children were followed up for an initial 1 year at this hospital. Thirty-seven cases (84%) still continue their follow-up with us. The age of onset ranged from 1 to 14 months (mean, 6.0 months). Developmental delay before the onset of infantile spasms was noted in 29 (65.9%) children. Brain computed tomography was abnormal in 29 (65.9%). Sodium valproate and vigabatrin were the most often used drugs, though other antiepileptic drugs were also used. Nine (24.5%) children achieved good seizure control, out of which five have normal development. Only one child could be weaned off antiepileptic drugs completely. There was one death in the whole series, related to aspiration pneumonia.

Anticonvulsants↗
PubMed2001

Vigabatrin associated retinal dysfunction in children with epilepsy.

BACKGROUND: Recent reports have established that eye changes occur in patients treated with vigabatrin. AIM: To identify the eye changes associated with vigabatrin, based on a prospective study of children treated for seizures. METHODS: Twenty nine children on vigabatrin (mainly as add on therapy) were followed up for 6.5 years. Ophthalmic examination was performed before starting treatment and then six monthly in the outpatient clinic. RESULTS: Twenty one children fulfilled the inclusion criteria. Most had epileptic syndromes with infantile spasms-namely West syndrome, Lennox-Gastaut syndrome, and partial seizures. Vigabatrin dose was 25-114 mg/kg/day (mean 55.8); duration of therapy was 6-85 months (mean 35.7). Four children (19%) developed eye changes (retinal pigmentation, hypopigmented retinal spots, vascular sheathing, and optic atrophy). Visual evoked potentials were abnormal in 16 children. Electroretinography and electro-oculography, which could have picked up eye changes in early stages, were not performed, as this facility was not available. CONCLUSIONS: Vigabatrin causes eye damage. Most children with epileptic syndromes on vigabatrin cannot complain of their eye problems, hence 3-6 monthly ophthalmic follow up is strongly advised, along with regular electroretinography, electro-oculography, and visual evoked potentials if possible.

Adolescent↗
PubMed2001

Aicardi-Goutieres syndrome in siblings.

Two siblings with familial encephalopathy, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported. This syndrome resembles congenital intrauterine infections, which must be meticulously excluded. Aicardi-Goutieres syndrome is extremely rare and is being reported from the Arab world for the first time to our knowledge.

Atrophy↗
PubMed2001

Corpus callosum agenesis.

OBJECTIVE: The objectives are to analyse corpus callosum agenesis in children with various neurological problems in a hospital set-up, and to study the neurological and systemic abnormalities associated with this condition. METHODS: The children with various neurological problems who underwent computerized tomography brain from January 1993 to December 1997, and were found to have corpus callosum agenesis, formed the subjects of this study. These children were examined for any syndromic association, congenital infections or metabolic defects. RESULTS: Out of 2164 children who underwent computerized tomography brain, 22 had corpus callosum agenesis (1%). Most cases were not syndromic and 64% were males. Epileptic disorders were noted in about one third of cases. CONCLUSION: Corpus callosum agenesis is an important anomaly in children with neurodevelopment handicaps, usually detected by neuroradiology.

Agenesis of Corpus Callosum↗
PubMed1998

External hydrocephalus: a report of 16 cases from Oman.

Sixteen cases of external hydrocephalus (EH) were seen from January 1993 to June 1995. There were 13 (81 per cent) male and three female children. Fourteen (88 per cent) were under 12 months of age. Three siblings with EH were seen in one family. All, but three recovered over time without medical or surgical intervention. These three needed cerebral decongestants in the acute phase. This is the first report of EH from Oman.

Cephalometry↗
PubMed1990

Epidemiology of young strokes in rural Kashmir, India.

Kuthar valley in the Anantnag district of south Kashmir (North-west India) was surveyed to ascertain the prevalence of completed strokes. In a population of 63,645, the survey was from July to November 1986; 91 cases of completed stroke were detected giving a crude prevalence of 143/100,000. Only 10 (10.9%) cases (7W: 3M) were in the age group 15-39 years, a prevalence rate of 41/100,000.

Adolescent↗
PubMed1989

Eating epilepsy.

Fifty cases of eating epilepsy (EE) are reported. Mastication of food produced seizures in 49 (98%) and swallowing in 1 (2%). Complex partial seizure was found in 48 cases, the commonest form encountered (96%). EEG was abnormal in 15 cases (30%). The literature and possible mechanisms for seizure are discussed.

Adolescent↗
PubMed1989

Myelomyopathy and thyrotoxicosis.

A thirty year female patient presented with features of thyrotoxicosis, myopathy and cervical myelopathy of one year duration. Her cervical metrizamide myelogram was normal. On antithyroid therapy muscle weakness and features of myelopathy improved over three months follow up.

Adult↗
PubMedDate not supplied

Prevalence and pattern of epilepsy (Lath/Mirgi/Laran) in rural Kashmir, India.

The rural population of 63,645 living in the mountainous Kuthar Valley of South Kashmir, Northwest India was surveyed to determine the prevalence of major neurologic disorders, including epilepsy (called Lath/Mirgi/Laran in the local language). The survey was done according to a World Health Organization protocol (1981). House-to-house screening was done by Anganwadi workers to identify people with possible epilepsy. The screening questionnaire was translated into local vernacular. Persons who had some indication of a history of seizures or other neurologic disease were subsequently examined by a neurologic team. The diagnostic criteria of Hauser and Kurland (1975) were used to define cases of active epilepsy and seizure classification (ILAE, 1981) was done only with clinical data. One hundred fifty-seven cases of active epilepsy were detected, giving a crude prevalence rate of 2.47/1,000 general population. In those aged less than 14 years, prevalence was 3.18/1,000. Ninety-five (60.5%) of all cases were male; 91% of active epilepsy cases had onset of seizures before age 30 years. Mean age of onset in males was 5.3 years, and in females it was 7.1 years. Mean duration of seizures was 6 years; 78.9% cases had generalized seizures, 74.5% cases were receiving no specific treatment, 99.4% cases were born of home delivery, and 8.9% cases had a positive family history of seizures. Mental retardation was the most common associated abnormality in 22.9% of cases.

Adolescent↗