Pontocerebellar hypoplasia is a heterogeneous group of disorders characterized by abnormally smal... more Pontocerebellar hypoplasia is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, microcephaly, congenital contractures, polyhydramnios, and respiratory insufficiency leading to death in infancy. Recently, however, the spectrum of this disease has been extended to include less severe variants, some of which are associated with minimal atrophy of the brainstem. In two reported cases of late-onset variant pontocerebellar hypoplasia, the siblings were alive at 9 years and 6 years, respectively, but were severely crippled and anarthric; they had features of anterior horn cell involvement and cerebellar atrophy but the brainstem was spared. The present case is that of a 12-year-old boy with early onset of anterior horn cell involvement and slowly progressive cerebellar ataxia who is still able to walk with support and speak in sentences. He was found to be devoid of the exon 7 and exon 8 deletion of the survival motor neuron gene seen in classical spinal muscular atrophy, and magnetic resonance imaging indicated marked atrophy of the cerebellar vermis and hemispheres, with minimal involvement of the brainstem. This form is apparently the mildest variant of pontocerebellar hypoplasia type 1 described to date.
Background: Rett syndrome (RTT) is a rare neurological disorder that primarily affects the female... more Background: Rett syndrome (RTT) is a rare neurological disorder that primarily affects the females. Most cases of RTT are caused by a de novo mutation in the MECP2 gene located on the X chromosome. About 1000 MECP2 mutations have been found to be associated with RTT. Objective: The present study is aimed at the mutation screening of MECP2 gene in the RTT patients belonging to the south Indian state of Kerala. Materials and Methods: In total 22 girls with a clinical suspicion of RTT were recruited for the study. Exons 2, 3, and 4 of MECP2 were amplified and sequenced. Results: MECP2 mutations were observed in 12 patients. While 7 mutations were pathogenic, 4 were benign. All of the mutations were located in exons 3 and 4 of MECP2, spanning the methyl-CpG DNA binding domain (MBD), transcription repression domain (TRD), and C-terminal domain (CTD) domains of the MECP2 protein. Four novel mutations were identified. There were no mutations in the MECP2 gene of 10 patients with a clinical suspicion of RTT. Conclusions: A recommended screening strategy for RTT is to first look for mutations in exons 3 and 4 of MECP2, followed by exons 1 and 2, testing for large deletions in MECP2, and screening for mutations in genes, such as CDKL5 and FOXG1 that are reported to cause a Rett-like phenotype.
Supplemental information includes a table that illustrates DNA copy alterations identified using ... more Supplemental information includes a table that illustrates DNA copy alterations identified using micro-array copy number analysis, the photos of affected individuals, the illustration of beadarray analysis of SNP data, used to identify the chromosomal subregion duplication and deletion events present in family members, and FISH karyotype analyses. (DOCX 1037Â kb)
To determine the sequelae of neonatal seizures in a cohort of newborns, recruited over a six mont... more To determine the sequelae of neonatal seizures in a cohort of newborns, recruited over a six month period. Prospective hospital based study. The neonatal intensive care unit (NICU) of a tertiary care hospital. 135 babies were recruited of whom 10 died and 25 were lost to follow up. The cases were followed up over four months. 68% of the babies followed up were normal; 32% had an abnormal neurological outcome. Seven (7%) developed post-neonatal epilepsy. Hypocalcemia was significantly associated with mortality (OR: 21.9; 95% CI: 1.2-391.2). No risk factors could be identified for post neonatal epilepsy. Presence of spike waves in the EEG was significantly related to abnormal neurological outcome (OR: 3.5; 95% C.I. 1.2-10.8). Majority of neonates with seizures have a normal outcome with no developmental delay or neurological deficit. Predominantly spike waves in the EEG is predictive of abnormal neurological outcome.
We report two cases of encephalopathy following a short febrile illness. Case one was a five year... more We report two cases of encephalopathy following a short febrile illness. Case one was a five year old child whose magnetic resonance imaging (MRI) of the brain showed a reversible discrete lesion in the splenium of the corpus callosum (SCC) and a ten year old boy who had extensive hyperintensity of the SCC. As these children have presented while there was an outbreak of influenza in our locality and since the second child tested positive for H1N1 antigen on PCR test, we feel that as previous authors have pointed out, these cases are cases of possible influenza encephalopathy. This awareness needs to be disseminated as this specific MRI finding should prompt one to test for H1N1 antigen and offer specific antiviral agent. Case one showed signs that support the existence of a splenial syndrome.
Objectives: The study was conducted to identify nutritional and feeding problems among children w... more Objectives: The study was conducted to identify nutritional and feeding problems among children with cerebral palsy Methods and Material: 75 consecutive children with cerebral palsy, from a Paediatric Neurology outpatient clinic were selected. An interview schedule was used to assess feeding problems. Assessment proforma, weighing machine and measuring tape were used to assess physical measurement for identifying nutritional problems. Results and Conclusions: 75.9% of the cohort had malnutrition, 64% had wasting and 70.7% had stunting. 69.2% of 2-5 yrs olds, 80% of 5-8 yr olds and 62.5% of 8-12 yr olds were underweight. 5.3% were overweight.100%, 50% and 67.5% of choreoathetoid, hemiplegic and quadriplegic children were underweight respectively. Stunting was marked in the 8-12 year group and in diplegics. Feeding problems were more common in the 5-8 year group. 95% had a slow intake. 95% had a slow oral intake. 76.5% could not self feed, 60% spilt food, 45% rejected solids, 35% had ...
Results and conclusion: Hypoxic ischemic encephalopathy was the most common cause of seizure in o... more Results and conclusion: Hypoxic ischemic encephalopathy was the most common cause of seizure in our study group; followed by hypoglycemia and intracranial bleed. HIE was the commonest cause of seizure in the first 24 hours and the commonest age of presentation of babies with HIE and seizures was the first 24 hours. Hypoglycemic seizures peaked from 2472 hours of birth. 75% of the cases of meningitis presented after 72 hours. The electroencephalogram was normal in the majority of patients and sharp wave bursts was the commonest interictal abnormality seen.
Pontocerebellar hypoplasia is a heterogeneous group of disorders characterized by abnormally smal... more Pontocerebellar hypoplasia is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, microcephaly, congenital contractures, polyhydramnios, and respiratory insufficiency leading to death in infancy. Recently, however, the spectrum of this disease has been extended to include less severe variants, some of which are associated with minimal atrophy of the brainstem. In two reported cases of late-onset variant pontocerebellar hypoplasia, the siblings were alive at 9 years and 6 years, respectively, but were severely crippled and anarthric; they had features of anterior horn cell involvement and cerebellar atrophy but the brainstem was spared. The present case is that of a 12-year-old boy with early onset of anterior horn cell involvement and slowly progressive cerebellar ataxia who is still able to walk with support and speak in sentences. He was found to be devoid of the exon 7 and exon 8 deletion of the survival motor neuron gene seen in classical spinal muscular atrophy, and magnetic resonance imaging indicated marked atrophy of the cerebellar vermis and hemispheres, with minimal involvement of the brainstem. This form is apparently the mildest variant of pontocerebellar hypoplasia type 1 described to date.
Background: Rett syndrome (RTT) is a rare neurological disorder that primarily affects the female... more Background: Rett syndrome (RTT) is a rare neurological disorder that primarily affects the females. Most cases of RTT are caused by a de novo mutation in the MECP2 gene located on the X chromosome. About 1000 MECP2 mutations have been found to be associated with RTT. Objective: The present study is aimed at the mutation screening of MECP2 gene in the RTT patients belonging to the south Indian state of Kerala. Materials and Methods: In total 22 girls with a clinical suspicion of RTT were recruited for the study. Exons 2, 3, and 4 of MECP2 were amplified and sequenced. Results: MECP2 mutations were observed in 12 patients. While 7 mutations were pathogenic, 4 were benign. All of the mutations were located in exons 3 and 4 of MECP2, spanning the methyl-CpG DNA binding domain (MBD), transcription repression domain (TRD), and C-terminal domain (CTD) domains of the MECP2 protein. Four novel mutations were identified. There were no mutations in the MECP2 gene of 10 patients with a clinical suspicion of RTT. Conclusions: A recommended screening strategy for RTT is to first look for mutations in exons 3 and 4 of MECP2, followed by exons 1 and 2, testing for large deletions in MECP2, and screening for mutations in genes, such as CDKL5 and FOXG1 that are reported to cause a Rett-like phenotype.
Supplemental information includes a table that illustrates DNA copy alterations identified using ... more Supplemental information includes a table that illustrates DNA copy alterations identified using micro-array copy number analysis, the photos of affected individuals, the illustration of beadarray analysis of SNP data, used to identify the chromosomal subregion duplication and deletion events present in family members, and FISH karyotype analyses. (DOCX 1037Â kb)
To determine the sequelae of neonatal seizures in a cohort of newborns, recruited over a six mont... more To determine the sequelae of neonatal seizures in a cohort of newborns, recruited over a six month period. Prospective hospital based study. The neonatal intensive care unit (NICU) of a tertiary care hospital. 135 babies were recruited of whom 10 died and 25 were lost to follow up. The cases were followed up over four months. 68% of the babies followed up were normal; 32% had an abnormal neurological outcome. Seven (7%) developed post-neonatal epilepsy. Hypocalcemia was significantly associated with mortality (OR: 21.9; 95% CI: 1.2-391.2). No risk factors could be identified for post neonatal epilepsy. Presence of spike waves in the EEG was significantly related to abnormal neurological outcome (OR: 3.5; 95% C.I. 1.2-10.8). Majority of neonates with seizures have a normal outcome with no developmental delay or neurological deficit. Predominantly spike waves in the EEG is predictive of abnormal neurological outcome.
We report two cases of encephalopathy following a short febrile illness. Case one was a five year... more We report two cases of encephalopathy following a short febrile illness. Case one was a five year old child whose magnetic resonance imaging (MRI) of the brain showed a reversible discrete lesion in the splenium of the corpus callosum (SCC) and a ten year old boy who had extensive hyperintensity of the SCC. As these children have presented while there was an outbreak of influenza in our locality and since the second child tested positive for H1N1 antigen on PCR test, we feel that as previous authors have pointed out, these cases are cases of possible influenza encephalopathy. This awareness needs to be disseminated as this specific MRI finding should prompt one to test for H1N1 antigen and offer specific antiviral agent. Case one showed signs that support the existence of a splenial syndrome.
Objectives: The study was conducted to identify nutritional and feeding problems among children w... more Objectives: The study was conducted to identify nutritional and feeding problems among children with cerebral palsy Methods and Material: 75 consecutive children with cerebral palsy, from a Paediatric Neurology outpatient clinic were selected. An interview schedule was used to assess feeding problems. Assessment proforma, weighing machine and measuring tape were used to assess physical measurement for identifying nutritional problems. Results and Conclusions: 75.9% of the cohort had malnutrition, 64% had wasting and 70.7% had stunting. 69.2% of 2-5 yrs olds, 80% of 5-8 yr olds and 62.5% of 8-12 yr olds were underweight. 5.3% were overweight.100%, 50% and 67.5% of choreoathetoid, hemiplegic and quadriplegic children were underweight respectively. Stunting was marked in the 8-12 year group and in diplegics. Feeding problems were more common in the 5-8 year group. 95% had a slow intake. 95% had a slow oral intake. 76.5% could not self feed, 60% spilt food, 45% rejected solids, 35% had ...
Results and conclusion: Hypoxic ischemic encephalopathy was the most common cause of seizure in o... more Results and conclusion: Hypoxic ischemic encephalopathy was the most common cause of seizure in our study group; followed by hypoglycemia and intracranial bleed. HIE was the commonest cause of seizure in the first 24 hours and the commonest age of presentation of babies with HIE and seizures was the first 24 hours. Hypoglycemic seizures peaked from 2472 hours of birth. 75% of the cases of meningitis presented after 72 hours. The electroencephalogram was normal in the majority of patients and sharp wave bursts was the commonest interictal abnormality seen.
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