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Biomedical subjects

V Kalra

Publications and source records attributed to V Kalra.

At least 37 records · Page 2Linked to original sources
PubMed2000

Infantile-onset leukoencephalopathy with discrepant mild clinical course.

Four children characterised by megalencephaly and cerebral leukoencephalopathy with infantile onset, defined on the basis of clinical and neuroimaging findings are reported. The course of the disease is characterised by stabilization of the macrocephaly and slow clinical deterioration. The CT scan findings include supratentorial diffuse hypodensities in the white matter and swelling. The characteristic MRI findings include the discrepant severity in comparison with the clinical picture, diffuse supratentorial white matter abnormalities with subcortical cysts. The basic defect of the disease is unknown. Considering the high rate of consanguinity among the parents and the presence of two affected sibs in one family, an autosomal recessive inheritance is assumed. We report four unrelated cases of this entity.

Brain↗
PubMed2000

Muscular dystrophies.

The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than histological only. These and the gene deletion studies in the families have become essential diagnostic criteria.

Child↗
PubMed2000

Plumbism--a mimicker of common childhood symptoms.

Lead poisoning is a preventable entity that can affect almost every system of the body. Its toxic effects range from subtle common childhood symptoms to even death. In a prospective study forty six children with at least one symptom compatible with plumbism were enrolled after screening patients attending medical services at AIIMS. The work-up included a detailed clinical history and examination including intelligence quotient (IQ) and behaviour. Blood lead levels were estimated in all with due precautions. Their ages ranged from 2.5 to 18 years and M:F ratio was 2:1. The common symptoms included unexplained recurrent colic (39), anorexia (21), sporadic vomiting and constipation (13), pigmented gum lines (11), growth failure (11), history of pica (9) etc. None of the children had acceptable blood lead levels (< 10 micrograms/dl). Ninety three per cent children had levels > 20 micrograms/dl and 47.8% had > 45 micrograms/dl. Statistically significant correlation with blood lead levels was seen with most symptoms. Plumbism can mimic common childhood illnesses and should be investigated in children with a clinically compatible profile. Community awareness with regard to pica reduction may be an important preventive measure. This silent epidemic needs to be aggressively tackled by a multipronged approach.

Adolescent↗
PubMed2000

I-cell disease (Mucolipidosis II).

I-cell disease (Mucolipidosis II) is one of the lysosomal storage diseases which presents in the neonatal period, and within six months will phenotypically resemble the severe forms of the group of disorders called the "mucopolysaccharidoses" but without mucopolysacchariduria. In Mucolipidosis II, fibrocytes exhibit "abnormal lysosomes". Activities of several lysosomal enzymes are low in fibroblast cultures but high in mucolipidosis II serum. We present a patient with I-cell disease diagnosed on the basis of clinical, radiological and biochemical features. The mother of this child was pregnant and the fetus was also found to be affected.

Child, Preschool↗
PubMed2000

Juvenile neuronal ceroid lipofuscinosis.

A case of juvenile neuronal ceroid lipofuscinosis (JNCL) diagnosed on the basis of clinical features, electrophysiologic studies and skin electron microscopy is reported. JNCL was suspected on the basis of characteristic symptoms including progressive loss of vision, seizures, mental retardation and motor disabilities. Diagnosis was confirmed by neurophysiological and biopsy studies. The disease is caused by 23 different mutations in a gene recently isolated on chromosome 16 p11.2-12.1. Although universally fatal, characterisation of mutations can help in prenatal diagnosis in future pregnancies.

Adolescent↗
PubMed2000

Biotinidase deficiency--a treatable entity.

Biotinidase deficiency is a well recognised treatable cause of a wide spectrum of progressive neurological symptoms. Recent reports have stressed the need to screen children with early onset of seizures, encephalopathy, neurodevelopmental delay, skin rash and alopecia. Enzyme estimation remains the conclusive test. We present a patient with biotinidase deficiency suspected on the above clinical grounds and diagnosed on the basis of metabolic acidosis, raised blood lactate, ketonuria and positive dinitrophenylhydrazine (DNPH) test and confirmed on urinary organic acid profile. Supplementation with biotin resulted in marked clinical improvement and normalisation of metabolic parameters. Thus the clinician should be alert to simple clinical pointers which aid in early diagnosis of these disorders.

Amidohydrolases↗
PubMed2000

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Journal Article↗
PubMed2000

Wilson's disease--early onset and lessons from a pediatric cohort in India.

OBJECTIVE: To study the clinical profile at presentation and on follow up in cases of Wilson's disease presenting at this hospital. METHODS: Case records of children diagnosed as Wilson's disease (WD) admitted in the hospital or attending the Pediatric outpatient department were retrospectively studied with regard to clinical features, investigations, and family screening at the time of presentation. Note was made of the treatment received by the patients. Clinical profile on follow up was recorded with respect to side effects of treatment, and whether patient improved, deteriorated or remained the same, either from the records or by calling the patient for a follow up, if possible. RESULTS: Analysis of 25 children with Wilson's disease comprising 19 index cases and 6 siblings detected on family screening, revealed mean age of onset for the hepatic presentation was 6.8 years versus 8 years for the neurologic patient. A quarter of index cases has a family history strongly suspicious for Wilson disease which has been earlier overlooked. Clinical presentation was hepatic in 5 patients, purely neurologic in 5, mixed hepatic and neurologic in 9, hemolytic anemia in 1 and polyarthritis in 1. Patients received treatment with D penicillamine, zinc, pyridoxine and low copper diet. Follow upon 18 patients revealed improvement in majority, residual dysarthria in seven,prolonged persistence of KF rings in 15 and complications like renal tubular acidosis with osteopenia in one. CONCLUSION: The early age of onset of symptoms, prolonged KF rings persistence and progression of symptoms among sibs despite therapy is of interest as it may be related to a high copper intake, which may be due to the practice of using brass or copper utensils for cooking Since a large number of children has either a past history of jaundice or sibling deaths due to jaundice or cirrhosis, a high index of suspicion and screening for KF rings is emphasized as a simple and cost effective way of detecting a curable disease at an early stage and family screening of all index cases is imperative. Progression of symptoms among sibs on oral zinc and low dose pencillamine suggests inadequacy of zinc alone for prophylaxis.

Adolescent↗
PubMed2000

Management of childhood epilepsy.

As "seizures beget seizures," it is essential to investigate the etiology and control seizures early. The multiplicity of causes, variability in the response to treatment and in the outcome, despite adequate treatment often create dilemmas for the physician. The best option for the clinician is to take cognizance of each reported symptom carefully, examine the patient thoroughly, elucidate the family history, examine the sequence of the disease process and tailor the prescription accordingly. The investigations should depend on the anticipated cause, keeping in view the cost benefit analysis and economic constraints with a simultaneous onus of not missing treatable causes. In addition, if the long term serious effects on social function are to be rectified, physicians must address these areas with equal enthusiasm to the drug treatment of childhood epilepsy. Development of newer antiepileptic drugs and rationalising epilepsy surgery will be the challenges of the coming millennium.

Anticonvulsants↗
PubMed2000

Single-photon emission computed tomography (SPECT) in childhood epilepsy.

The success of epilepsy surgery is determined strongly by the precise location of the epileptogenic focus. The information from clinical and electrophysiological data needs to be strengthened by functional neuroimaging techniques. Single photon emission computed tomography (SPECT) available locally has proved useful as a localising investigation. It evaluates the regional cerebral blood flow and the comparison between ictal and interictal blood flow on SPECT has proved to be a sensitive nuclear marker for the site of seizure onset. Many studies justify the utility of SPECT in localising lesions to possess greater precision than interictal scalp EEG or anatomic neuroimaging. SPECT is of definitive value in temporal lobe epilepsy. Its role in extratemporal lobe epilepsy is less clearly defined. It is useful in various other generalized & partial seizure disorders including epileptic syndromes and helps in differentiating pseudoseizures from true seizures. The need for newer radiopharmaceutical agents with specific neurochemical properties and longer shelf life are under investigation. Subtraction ictal SPECT co-registered to MRI is a promising new modality.

Brain↗
PubMed1999

Incidental spina bifida occulta in functional enuresis observed during laser reflexo therapy.

The etiology of persistent functional enuresis in children is ill understood. A wide range of therapeutic modalities have been tried. During investigations preceding a trial of laser reflexo therapy in functional enuretic children aged 7 to 10 years spina bifida occulta was observed in 86.6% of subjects. The lesions were predominantly at the L5-6 level. There were no cutaneous stigmata in the form of lipoma, tufts of hair, or dermal sinus at the back. Neurologic examination was unremarkable and there were no associated skeletal malformations. This strong association of spina bifida occulta with functional enuresis is higher than the reported incidence of 16.5% to 34% in normal children. This strong association hitherto unreported, raises an interesting issue in the search for the etiopathogenesis of functional enuresis.

Adolescent↗