IMSEAR Repository :: Browsing by Author "Kalra, Veena"

Browsing by Author "Kalra, Veena"

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ACTH therapy in refractory generalized epilepsy.
(2009-01-17) Kalra, Veena; Sharma, Suvasini; Arya, Ravindra
Adrenocorticotropic hormone (ACTH) has a long track record for the treatment of infantile spasms. However, there is paucity of data on the use of ACTH in the treatment of epilepsy beyond infantile spasms. We report the use of ACTH in two children with refractory generalized epilepsy. Both patients responded well. ACTH may be considered as a useful adjunctive therapy in patients with intractable generalized seizures. Side effects and cost however, remain important concerns.
Autism -- experiences in a tertiary care hospital.
(2005-03-07) Kalra, Veena; Seth, Rachna; Sapra, Savita
Pervasive developmental disorders (PDD) or Autistic Spectrum Disorders (ASD) include Autistic Disorder (commonest), Asperger's syndrome, Childhood Disintegrative Disorders, Rett's syndrome and PDD-NOS (not otherwise specified). OBJECTIVE: Autism is an important cause of social disability and reported more often from the developed world than from the developing countries. The present study was aimed to establish the diagnosis of autism amongst children with derangements of language, communication and behavior; ascertain and treat the co-morbidities; identify underlying cause and create a sensitivity and awareness among various health care professionals. METHODS: Sixty-two of the seventy-five referred patients fulfilled the DSM-IV (Diagnostic and Statistical Manual of Mental Disorder) criteria for autism. Evaluation included a detailed history, clinical examination, IQ assessment, Connor's scoring for hyperactivity and Fragile-X screening. Management of co-morbidities was done. A follow up of these patients was done. Parents' assessment of the child was also done. A registry for autistic children was established at the Department of Pediatrics with other major institutions of Delhi. RESULTS : The male:female ratio was 8:1 and missed diagnosis was common. Professional awareness is merited. Behavioral modification by early intervention and stimulation improved the core symptoms of autism. Important co-morbidities included mental retardation (95%), hyperactivity (53%) and seizures (10%) cases. Control of co-morbidities in these children facilitated child's periodic assessment and implementation of intervention programmes. In the registry initiated 62 patients were enrolled at AIIMS and 6 were identified from other hospitals. CONCLUSION: Autism does occur in Indian children too. Diagnosis is often missed. Capacity building among health professionals by a more structured teaching of developmental disabilities in the medical curriculum is required. The need to attend to co-morbidities and associated symptoms was clear. The initiation of the registry and beginning of networking was important.
Autism in India.
(2006-05-01) Seth, Rachna; Kalra, Veena
Central core disease.
(2004-11-02) Gulati, Sheffali; Salhotra, Amandeep; Sharma, M C; Sarkar, Chitra; Kalra, Veena
Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central cores on muscle biopsy. It generally presents during infancy. It is familial with autosomal dominant inheritance [Chromosome 19q13.1; Gene Locus RyR1 (Ryanodine receptor gene)]. We report here two cases of central core disease in a 3-year-old male child and 8 year old female child.
Childhood Status Epilepticus: Current Status and Future Directions
(Indian Academy of Pediatrics, 2020-03) Kalra, Veena
Clobazam in refractory childhood epilepsy.
(2010-03) Kalra, Veena; Seth, Rachna; Mishra, Devendra; Saha, Narayan C
Objective. To evaluate the efficacy of clobazam in childhood refractory epilepsy and to characterize the adverse drug reaction profile in the Indian population. Methods. A cohort of 88 children with ‘refractory’ epilepsy was started on clobazam as add-on therapy. Diagnosis was established and seizure type recorded. Therapeutic response was recorded as ‘complete’, ‘good’, and ‘no response’. Observed side effects were classified as ‘mild’, ‘moderate’ and ‘severe’. Results. Most children were on at least two antiepileptics. Seizures most identified were either partial (36.3%) or generalized tonic-clonic (15.9%). The dose ranged from 0.3-2 mg/kg/day (average 1+0.2 mg/kg/day). Clobazam was effective against all seizure types with complete seizure control seen in 60.2% patients. Tolerance was seen in 5 (5.6%) patients. Side effects were seen in 23 (26%) patients and were ‘mild’ in 20 (86.9%) of them. Clobazam was stopped in three patients who developed ataxia, which resolved on stopping the drug. Conclusion. Clobazam was observed to be an effective broad-spectrum antiepileptic with ‘mild’ side effects in Indian children.
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy.
(2004-12-01) Garg, Ajay; Gulati, Sheffali; Gupta, Vipul; Kalra, Veena
Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with FCMD.
Congenital myopathies: a clinicopathological study of 25 cases.
(2008-10-15) Jain, Deepali; Sharma, Mehar C; Sarkar, Chitra; Gulati, Shefali; Kalra, Veena; Singh, Sumit; Bhatia, Rohit
OBJECTIVE: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. MATERIALS AND METHODS: The clinical data of patients who were diagnosed with congenital myopathy between 2001 and 2006 was retrieved. Muscle biopsies were processed for H&E staining, enzyme histochemistry, and immunohistochemistry. Biopsies were also processed for ultrastructural analysis. RESULTS: During a period of 6 years, 1.12% of the muscle biopsies were diagnosed as congenital myopathies. The most common congenital myopathy was central core disease followed by nemaline rod myopathy and multi-mini core disease. Clinically, they have variable features. The final diagnosis was made with the help of enzyme histochemistry and ultrastructural features. CONCLUSION: This study emphasizes the importance of enzyme histochemistry and electron microscopic examination in the diagnosis of congenital myopathies especially in the absence of genetic studies.
Diagnostic dilemmas in fulminant subacute sclerosing panencephalitis (SSPE).
(2004-04-27) Sarkar, Nupur; Gulati, Sheffali; Dar, Lalit; Broor, Shobha; Kalra, Veena
This report describes an eleven-year-old boy with atypical features of subacute sclerosing panencephalitis (SSPE), a rare complication of measles. He had only visual symptoms for 2 months followed by rapid neurological worsening to a vegetative state in 10 days. A diagnosis of SSPE was made based on the history of measles, characteristic ocular findings, compatible magnetic resonance imaging and electroencephalographic changes, and elevated ratio of cerebrospinal fluid to serum anti-measles antibody titers.
Duchenne muscular dystrophy: prevalence and patterns of cardiac involvement.
(2005-05-24) Gulati, Sheffali; Saxena, Anita; Kumar, Virender; Kalra, Veena
In about 10% cases of Duchenne muscular dystrophy (DMD), death is due to cardiac dysfunction. The recognition of cardiomyopathy in DMD is thus important. OBJECTIVE: To assess cardiac involvement in DMD patients by clinical, radiographic, electrocardiographic (ECG) and echocardiographic monitoring and correlate clinical parameters, CPK levels, presence of gene deletion and steroid therapy with cardiac involvement. METHODS: Thirty patients beyond 6 years age, with DMD in advanced stage disease/non-ambulatory were recalled. A detailed clinical evaluation, CPK levels, gene deletion studies were carried out. Cardiac investigations included Chest X-ray, 12 lead ECG and echocardiography. RESULTS: Nineteen patients were non-ambulatory at the time of enrollment. Symptoms or signs suggestive of cardiac dysfunction were seen in only 10%. Gene deletion was identified in 70.3%. Around one-third patients had cardiomegaly. ECG abnormalities were present in 93.3% patients and commonest abnormality was R > 4 mm in V1. Ejection fraction (EF) < 55% was observed in 64.2% and EF < 50% in 17.8%. CONCLUSION: Cardiomyopathy of DMD is characterized by lack of symptoms and few physical signs. Presence of subtle changes like sinus tachycardia may suggest early cardiac involvement. Thus echocardiography is required for evaluation of cardiac dysfunction. Presence of gene deletion was associated with higher CT ratio. Older children have been found to have higher heart rates. No other significant correlation with clinical parameters, CPK levels, genotype and steroid therapy was observed. Early detection possibly leads to appropriate treatment thus reducing the morbidity.
Efficacy of Pyridoxine in Early-Onset Idiopathic Intractable Seizures in Children.
(2010-11) Mishra, Devendra; Kalra, Veena; Seth, Rachna; Gulati, Sheffali; Saha, Narayan
Objective To identify pyridoxine responsive seizures among children with early onset intractable seizures, and to identify pyridoxine-dependency as a subset in this group. Methods Patients with neonatal onset idiopathic, intractable seizures were identified over a 6-month period and subjected to a ‘pyridoxine trial’, at the Pediatric Neurology Clinic of a tertiary-care teaching hospital in New Delhi, India. This consisted of an intravenous infusion of 100 mg of pyridoxine over 10-min with a simultaneous EEG monitoring. This procedure was carried out in the EEG laboratory with all appropriate precautions (including availability of resuscitation Results 621 children with active epilepsy were seen at the PNC, of which 48 had early-onset, medical intractable epilepsy, and 21 children (13 males and 8 females), aged between 11 month and 38 month were enrolled. The median age at onset of seizure was 5.1 months. The major seizure type was focal in 3 and generalized in 18 (including infantile spasm in 11). No patient had normalization of EEG during the ‘trial’. Two patients (9.5%) had a response during the 2 weeks of oral treatment and oral therapy was continued. No toxicity or side-effects of pyridoxine were observed in these two patients over a follow-up of more than 18 months. Conclusions Pyridoxine responsive seizures contribute a significant proportion to early-onset idiopathic intractable epilepsy in childhood. Routine use of pyridoxine in the management of early onset resistant seizures would go a long way in identifying these patients early.
Erythema annulare centrifugum with autoimmune hepatitis.
(2004-06-01) Gulati, Sheffali; Mathur, Prashant; Saini, Devashish; Mannan, Rifat; Kalra, Veena
Erythema annulare centrifugum (EAC) is a rare disease entity characterized by dense perivascular lymphocytic infiltrates in dermis. It has been associated with a few conditions, though its etiology is largely unknown. To our knowledge there has been no reported association with autoimmune hepatitis described earlier. This child also was positive for hepatitis C virus antibodies, though HCV RNA was negative. We should keep in mind the false positivity of hepatitis C antibodies before deciding on its therapy.
Failure of prophylactic zinc in Wilson disease.
(2008-02-04) Mishra, Devendra; Kalra, Veena; Seth, Rachna
Early institution of prophylactic therapy of asymptomatic Wilson disease patients can prevent the expression of the disease. Zinc is currently preferred therapy for presymptomatic patients. We report onset of symptomatic disease in a presymptomatic patient and deterioration of biochemical parameters in another, despite appropriate zinc therapy.
Familial hypercholesterolemia.
(2004-01-26) Seth, Rachna Kapoor; Gulati, Sheffali; Seth, Sandeep; Menon, P S N; Kalra, Veena
Abnormalities in the lipid profile though uncommon in pediatric practice pose an increased risk for developing heart disease. Studies suggest that adult cardiovascular disease has its roots in children and young adults. A significant correlation between atherosclerotic changes in children and young adults and total and LDL cholesterol levels also exists. The association is particularly true for Familial Hypercholesterolemia. We report a young boy aged 14 years who presented with all the features of Familial Hypercholesterolemia.
Fragile X screening for FRAXA and FRAXE mutations using PCR based studies: Results of a five year study.
(2006-01) Chowdhury, Madhumita Roy; Kabra, Madhulika; Sharma, Deepti; Singh, Deepika; Dabral, Anjali; Thelma, B K; Kalra, Veena
Background: Fragile X syndrome is the most common cause of inherited X-linked mental retardation. It is due to a mutation in a gene on X chromosome leading to hyper-expansion of a trinucleotide repeat sequence. The two most common Fragile sites with clinical significance are FRAXA at Xq27.3 comprising CGG repeat and a more distal FRAXE associated with amplification of a GCC repeat, located at Xq28. The frequency of occurrence of Fragile X syndrome is estimated to be 1/4000 male births. Screening of referrals for the mutations associated with the Fragile X syndrome constitutes a significant workload in many genetic laboratories. Aims: The aim of the present study was to establish the use of PCR based simple and rapid method of initial screening of samples, so that only a minority of samples tested positive with the above methods need to be screened by Southern blotting which is more time consuming and involves use of radioactive material. materials and Methods: Study includes 294 patients with mental retardation. DNA extracted from blood was used for simultaneous amplification of the triplet repeat sequences at the FRAXA and FRAXE loci. Secondly samples from females were analyzed for heterozygosity of normal FRAXA allele. For confirmation of the presence of an expanded FRAXA allele in all the male positive cases, Southern blot hybridization was carried out. PCR based assay was done to detect methylation of the CpG island upstream of the FMR-1 gene. Results: Out of the 294 cases 23 (7.8%) were found to be having full mutation (FM) for FRAXA (21 males, 1 female & 1 male with mosaic FM/PM) and 13 females as having premutation (PM). All these 36 cases were confirmed by Southern blotting using appropriate probes. Among the females the heterozygosity for FRAXA allele was found to be 46%. Conclusion: Non-radioactive PCR methods are efficient and rapid test for intial screening of samples for the presence of FRAXA and FRAXE mutations. Since a large majority of referrals do not have Fragile X, this economical and reliable method reduces the number of samples needing Southern blotting.
Gamma-sarcoglycanopathy.
(2003-11-09) Gulati, Sheffali; Leekha, Surbhi; Sharma, M C; Kalra, Veena
The best known muscular dystrophies are X-linked dystrophinopathies. A clinically and genetically heterogeneous group presenting with weakness of the pelvic and shoulder girdles is that of the limb-girdle muscular dystrophies (LGMDs). Sarcoglycanopathies (SGPs) are autosomal recessive LGMDs. We report a rare case of primary gamma-sarcoglycanopathy (SGP) which emphasizes the evolving concept of dystrophinopathy to sarco-glycanopathy.
Gliomatosis cerebri.
(2009-05) Sharma, Suvasini; Kalra, Veena; Garg, Ajay; Suri, Vaishali; Suri, Ashish
A 6-year-old boy who presented with worsening hemiplegia, behaviour problems and seizures after an episode of encephalitis-like illness is reported. MRI revealed diffuse signal change and swelling of the left cerebral hemisphere. The diagnosis of gliomatosis cerebri was confirmed by brain biopsy. Parents refused radiotherapy and the child worsened and died 6 months after diagnosis.
Intermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency.
(2004-07-29) Gulati, Sheffali; Menon, Shaji; Kabra, Madhulika; Kalra, Veena
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder and the most common inherited cause of hyperammonemia. Clinical manifestations are more severe in hemizygous males who often present in neonatal period. Heterozygous females may be asymptomatic until juvenile or adulthood. Fluctuating concentration of ammonia, glutamine and other excitotoxic amino acids result in a chronic or episodically recurring encephalopathy. The authors report a heterozygous female with OTC deficiency who presented with recurrent encephalopathy.
Intraventricular neurocysticercosis.
(2009-04-07) Kalra, Veena; Mishra, Devendra; Suri, Ashish; Seth, Rachna; Garg, Ajay
Neurocysticercosis is the commonest CNS parasitic disease worldwide but cysticercal meningitis and intraventricular lesions are relatively rare, especially in Indian patients. We herein report a girl with cysticercal meningitis that remained undiagnosed and the patient later presented with unilateral hydrocephalous due to Foramen of Monroe block by an intraventricular cyst. The need for CSF examination with Wright-Giemsa staining to avoid missing CSF eosinophilia is discussed.
Juvenile rheumatoid arthritis with myelofibrosis with myeloid metaplasia.
(2005-09-28) Jain, Vandana; Maheshwari, Anu; Gulati, Sheffali; Kabra, Madhulika; Kalra, Veena
Myelofibrosis with myeloid metaplasia is defined as a myeloproliferative disorder characterized by leukoerythroblastosis, tear drop erythrocytes, extramedullary hematopoesis and varying degree of myelofibrosis. It may be idiopathic or secondary to a large number of conditions. Here is a rare case of myelofibrosis occurring in a patient with juvenile rheumatoid arthritis.

Browsing by Author "Kalra, Veena"

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