Extraneural cysticercosis - presenting as painless cervical swellings.
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Albendazole↗
Biomedical subjects
Veena Kalra
Publications and source records attributed to Veena Kalra.
Nephrogenic diabetes insipidus presenting with developmental delay and intracranial calcification.
A one-year-boy presented with constipation, fever, failure to thrive and developmental delay from the neonatal period. Investigations revealed persistent hypernatremia and deranged renal functions. Diagnostic work-up was suggestive of nephrogenic diabetes insipidus (NDI). Computerized tomography of head revealed calcification in the frontal, thalamic and basal ganglia region. The rare association of NDI and intracranial calcification is discussed.
Brain Diseases↗
Duchenne muscular dystrophy: prevalence and patterns of cardiac involvement.
UNLABELLED: 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.
Age of Onset↗
Juvenile rheumatoid arthritis with myelofibrosis with myeloid metaplasia.
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.
Anti-Inflammatory Agents↗
Status epilepticus in Indian children in a tertiary care center.
OBJECTIVE: To study the clinical profile, immediate outcome and possible risk factors of SE in pediatric age group admitted to pediatric intensive care unit (PICU) in a tertiary care center. METHODS: A retrospective study of case records of 451 neuroemergency patients admitted in PICU in a tertiary care center between January 1993 to April 2000, out of which 30 patients had status epilepticus. They were evaluated for their clinical presentation, laboratory parameters, treatment profile and immediate outcome. RESULTS: The age group varied from 1 to 120 months with mean of 56.6+/- 46.5 months. Seventeen patients were less than 60 months. Sixteen patients (53.3%) presented with SE as first presentation without prior history of seizure activity. Nine patients died (30%) during hospital course. Seizure duration> 45 minutes (p-0.001) and presence of septic shock (p-0.001) were associated with significantly more mortality. CONCLUSION: There is a need to abort seizure activity at the earliest and this improves immediate outcome.
Age Factors↗
Autism -- experiences in a tertiary care hospital.
UNLABELLED: 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.
Attention Deficit Disorder with Hyperactivity↗
Protein C system defects in Indian children with thrombosis.
As ethnic variations are known to exist in inherited genetic defects, the clinico-haematological profile of Indian children with thrombophilia may be different from that of Caucasians. The aim of the study was to analyse the phenotypic and genotypic causes of thrombophilia in Indian children. Forty patients with arterial (21 patients) and venous (19 patients) thrombosis were the subjects of the study. Their age ranged from 6 days to 15 years. All of the patients were initially screened by Pro C Global assay. Activated protein C resistance (APCR) was measured. In cases with low Pro C Global values, protein C (PC), protein S (PS) and factor V G1691A, prothrombin G20210A and MTHFR C677T polymorphism were tested in all 40 cases. Of the 21 patients with arterial thrombosis, 4 (19%) had PC deficiency, 7 (33.3%) had PS deficiency and 1 (4.8%) had combined deficiency of PC and PS. Of the 19 patients with venous thrombosis, 5 (26.3%) each had PC and PS deficiency and 4 (21%) had combined PC and PS deficiency. Heterozygous factor V G1691A defect was seen in one (4.8%) patient with arterial thrombosis and three (15.8%) patients with venous thrombosis. Heterozygous MTHFR C677T polymorphism was seen in five (23.8%) patients with arterial thrombosis and in four (21%) patients with venous thrombosis. Prothrombin G20210A polymorphism was absent in all patients and controls. Protein C system defect is common in Indian children with thrombosis.
Activated Protein C Resistance↗
Diagnostic dilemmas in fulminant subacute sclerosing panencephalitis (SSPE).
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.
Child↗
Intermittent hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency.
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.
Brain Diseases, Metabolic↗
Erythema annulare centrifugum with autoimmune hepatitis.
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.
Erythema↗
Familial hypercholesterolemia.
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.
Adolescent↗
Neurofibromatosis type I: spinal neoplasia without symptoms.
Neurofibromatosis1 (NF-1) or von Recklinghausen disease is the most common of the neurocutaneous syndromes. It is characterized by presence of hamartomas in multiple organs. Inheritance is autosomal dominant but spontaneous mutations are seen in half the cases. The authors are reporting a classical case of this syndrome with spinal neoplasia which was interestingly asymptomatic. Authorities seem to agree that because the risk of developing intradural disease is significant in patients with NF-1, a routine MRI of the entire spine should be obtained.
Child↗
Central core disease.
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.
Activities of Daily Living↗
Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy.
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.
Child, Preschool↗
Magnetic resonance spectroscopy in pediatric neurology.
In the last three decades a range of non-invasive biophysical techniques have been developed, of which Magnetic Resonance (MR) has proved to be the most versatile. Its non-invasive and safe nature has made it the most important diagnostic and research tool in clinical medicine. MR Spectroscopy (MRS) is the only technique in clinical medicine that provides non-invasive access to living chemistry in situ. This article focuses mainly on proton MRS in brain and also phosphorus MRS in calf muscle, with particular reference to the pediatric population, the normal spectrum and its use in various disease conditions in the practice of pediatric neurology. Few representative case studies among different disease groups have also been detailed.
Adolescent↗
Management of childhood epilepsy.
Epilepsy is a common childhood neurological morbidity needs careful evaluation, relevant investigations and precise therapy with appropriate antiepileptic drugs for optimal duration. Majority of childhood epilepsy remits with antiepileptic drugs and should be managed in the community. Practising pediatricians must counsel the family for possible etiology of epilepsy, compliance during treatment and possible outcome. It is important to distinguish pseudo seizures and nonepileptic events from true epilepsy, as this would reduce the burden of unwanted medication. It is also equally important to enable ourselves to recognize early predictors of intractability and refer them to appropriate referral units. Epilepsy is a social and an economic burden for the family. Preventive strategies by improved perinatal care, prevention and managemnt of neuro infections and infestations which will mitigate epilepsy burden in the community are essential. In this context it is important to familarize appropriate and relevant use of investigations. Inappropriate antiepileptic drug usage is common in the community and drug therapy should be rationalized. Epilepsy management requires a close interaction between the patient, family and the treating physician and a concerted effort is essential.
Anticonvulsants↗
Schinzel acrocallosal syndrome.
Acrocallosal syndrome (ACLS), also known by its synonyms: Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically. Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome.
Abnormalities, Multiple↗
Stroke in children.
Stroke is defined as the sudden occlusion or rupture of cerebral arteries or veins resulting in focal cerebral damage and neurological deficits. Forms of stroke resulting from vascular occlusion are arterial ischemic stroke (AIS) and sinovenous thrombosis (SVT) and those resulting from vascular rupture are called hemorrhagic stroke. Stroke in children is relatively rare and frequently results in a lack of recognition and delay in diagnosis. The etiologies of stroke in children are legion and multiple risk factors coexist unlike unifactorial etiology in adults. Heart disease whether congenital or acquired, malformations, metabolic and hematological disorders and vasospastic conditions like migraine are seen more often in childhood strokes. The purpose of diagnostic evaluation includes confirmation of the presence of a cerebrovascular lesion, exclusion of other types of neurological dysfunction and identification of etiology of the stroke. The treatment of stroke in children has been primarily directed toward stabilizing systemic factors and management of the underlying causes. Various antithrombotic and non antithrombotic therapies are discussed. The use of anticoagulant therapy appears to be increasing in pediatric AIS. Mortality after stroke in children ranges from 20% to 30% depending on the location and the underlying cause. Residual neurological dysfunction is present in more than 50% of survivors.
Adolescent↗