Alexander Chacko

Continuous midazolam infusion as treatment of status epilepticus

In a tertiary referral centre, midazolam infusion was tried as treatment for 20 children with status epilepticus over a period of two years. The mean age of the children was 4.07 years. Twelve children with refractory status epilepticus had received intravenous or per rectal diazepam and intravenous phenytoin/phenobarbitone or both before midazolam was given (0.15 mg/kg bolus followed by 1–5 μg/kg/min infusion). Eight children required only midazolam to control the established status epilepticus. The seizures were controlled in 19 children. The mean time required for complete cessation of seizures was 0.9 hours. The mean infusion rate required was 2.0 μg/kg/min. All children had regained full consciousness by a mean of 5.1 hours after discontinuation of midazolam treatment. No metabolic derangement or compromise of vital functions was noted in any of the children. Midazolam infusion is thus an effective and safe therapeutic approach for the management of childhood status epilepticus.

Severe autosomal recessive rippling muscle disease

Rippling muscle disease (RMD) has previously been reported as a skeletal myopathy that was attributed to a defect in the sarcomere. Here we report a new form of RMD that is more severe, characterized by fatal arrhythmic cardiomyopathy and delayed bone age. Mortality has previously not been associated with RMD. With this report we hope to raise awareness that a subset of patients with this clinical entity are predisposed to severe cardiac disease.

Ten-Year Prospective Study (Clinical Spectrum) of Childhood Guillain-Barré Syndrome in the Arabian Peninsula: Comparison of Outcome in Patients in the Pre— and Post—Intravenous Immunoglobulin Eras

A prospective study of Guillain-Barré syndrome from January 1992 to December 2001 was undertaken. Intravenous immunoglobulins were used in all patients. All patients were followed up until complete recovery. Various parameters, such as onset of weakness, duration of hospital stay, ventilation requirement, residual deficit, and mortality, were recorded. Acute relapses and fluctuations were also noted. The pattern of this group was compared with patients before 1992, who were not given intravenous immunoglobulins in the Sultanate of Oman. Our data were compared with a few studies prior to 1992 from the medical literature. Our study revealed a definite benefit with intravenous immunoglobulins. The disease course and hospital stay were shortened. Fewer patients needed ventilation. There was no mortality, and the residual deficit was less than 5%. Occasional relapses at a later stage in the course of illness have been noted in acute Guillain-Barré syndrome. However, acute relapse, a new phenomenon that was not seen in the pre—intravenous immunoglobulin era, stood at 11.9%. Intravenous immunoglobulins have made a significant difference in the outcome of Guillain-Barré syndrome, but one has to be aware of acute relapses, which usually occur in the first 2 to 3 weeks after administration. (J Child Neurol 2003;18:767—771).

Pontobulbar palsy and neurosensory deafness (brown-vialetto-van laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging : New finding in three siblings

Three siblings (one boy and two girls) with Brown-Vialetto-van Laere syndrome are reported. A peculiar feature of onset with hearing loss in a patient with multiple cranial nerve palsies and a positive family history suggests this diagnosis. In our family, an autosomal recessive mode of inheritance was seen. In addition, we observed that early onset was associated with rapid deterioration and death. Optic nerve involvement and hyperintensity of the brainstem nuclei on magnetic resonance imaging (MRI) are two newfeaturesdescribedin this report.(J Child Neurol 2006;21:523—525; DOI 10.2310/7010.2006.00096).

Pattern of Childhood Epilepsies With Neuronal Migrational Disorders in Oman

Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing evaluation for developmental delay and epilepsy formed the subjects of the study. Data were analyzed from children found to have neuronal migrational disorders on imaging (computed tomography [CT] or magnetic resonance imaging [MRI]). There were 40 cases of neuronal migrational disorders. Corpus callosum agenesis and lissencephaly or pachygyria formed the major group. There were 22 cases of corpus callosum agenesis, 12 of lissencephaly or pachygyria, 2 of schizencephaly, and 1 each of polymicrogyria, holoprosencephaly, hydranecephaly, and hemimegalencephaly. Nineteen of these 40 (47.5%) cases of neuronal migrational disorders had epilepsy. The break-down was 8 of 22 cases of corpus callosum agenesis (36%), 7 of 12 (58.3%) cases of lissencephaly or pachygyria, and 1 each of polymicrogyria, hydranencephaly, and hemimegalencephaly. The family history of developmental delay, similar to the index case, was present in two children with lissencephaly. However, the brain imaging did not reveal the abnormality. The types of seizures were infantile spasms in five, tonicclonic in nine, myoclonic in two, partial in one, and mixed in five. Nineteen of 40 cases of neuronal migrational disorders had epilepsy. Only 2 of 19 (10.5%) with epilepsy had good seizure control. This raises the possibility of more and more surgical intervention in the management of such cases. Neuronal migrational disorders are related to exogenous and genetic factors from the 6th to 26th weeks of gestation. Molecular and genetic research is defining the mechanism of these disorders. This could help in early diagnosis, prevention, and eventual gene therapy in such conditions. (J Child Neurol 2006;21:945—949; DOI 10.2310/7010.2006.00216).

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.

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.

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. (J Child Neurol 2001;16:759-761).

Vehicular entrapment and heat stroke in three children: is it a form of child neglect?

The medical records of three children who were entrapped inside vehicles are reviewed and their outcome following the incidents were assessed in this report. The children developed heat stroke following the incidents and survived after several days in coma but with severe cognitive functions impairment. Two of the children were left with hyperactivity and attention deficit, while the third had active epilepsy.Vehicular entrapment heat stroke is one of the preventable brain injuries in children. Several children get entrapped in cars or other vehicles yearly and survivors are left with significant brain damage. The usual cause for brain damage is heat stroke the lesson learned was to never leave children unattended in cars. Therefore, it is essential to double check that doors are locked when leaving children unattended near vehicles.

Clinical and genetic study of spinal muscular atrophies in Oman.

This article presents a retrospective study and a prospective study on spinal muscular atrophy in Oman. For the retrospective study, data were collected from neurophysiology records, from both inpatient and outpatient files. The prospective study was conducted on children as they presented to the hospital and was funded by Sultan Qaboos University. The patients of spinal muscular atrophy were classified into types I, II, and III based on their clinical features as per the International Spinal Muscular Atrophy Consortium classification. The incidence of spinal muscular atrophy was about 1 per 6000 live births. Spinal muscular atrophy type I formed 65% of the cases. Survival motor neuron deletion was seen in 70% of cases of all types of spinal muscular atrophy. The deletion was 83% in spinal muscular atrophy type I. A further study to look into the nondeletional cases is in progress.