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Biomedical subjects

Sheffali Gulati

Publications and source records attributed to Sheffali Gulati.

11 recordsLinked to original sources
PubMed2004

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↗
PubMed2004

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↗
PubMed2003

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↗
PubMed2003

Mental retardation.

Mental retardation (MR) occurs in 2-3% of the general population. Prevalence of milder MR is seven to ten times more than severe MR. Cause of severe MR can be determined in 60-70% of cases, as compared to mild MR where 35-55% remain idiopathic. The diagnostic process is aided considerably if the timing of a developmental insult can be determined: prenatal, periatal, postnatal (not mutually exclusive). History plays a pivotal role in approaching a diagnosis. After clinical evaluation one should be able to assess whether the disorder is static or progressive; approximate developmental quotient; possible timing of insult and possible underlying genetic etiology. Investigations should be based on history and physical examination. The important category of tests include: thyroid function tests, cytogenetic studies, metabolic work-up, fragile-X screening, radiological investigations, electrophysiological studies and specific tests according to the suspected diagnosis. Having an etiological explanation aids in the development of a specific treatment plan; helps families understand prognosis and recurrence risk and on the community level assists in the development of preventive strategies.

Child↗
PubMed2003

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↗
PubMed2003

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↗
PubMed2003

Gamma-sarcoglycanopathy.

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.

Biopsy, Needle↗
PubMed2002

West syndrome and other infantile epileptic encephalopathies--Indian hospital experience.

Children with infantile epileptic encephalopathies comprising 3.5% of the Pediatric Neurology Clinic registrations in a tertiary care hospital were retrospectively analyzed. Data were retrieved from case records and analyzed for seizure semiology, prenatal and perinatal insults, developmental status and relevant investigations. The various therapeutic modalities and their influence on spasm frequency, long-term development and final seizure status were compared. The two primary outcome variables analyzed included final seizure status and developmental outcome. Of the 94 infantile epileptic encephalopathies, West syndrome was the commonest (55.3%), of which two thirds were symptomatic. Etiological factors were prenatal in 66.6% and perinatal in 33.3%. The initial response to ACTH was good in 54.5% with subsequent relapse in 27.8% and for prednisolone was 52.9 and 44.4%, respectively, compared to 25.3% spasms control with conventional antiepileptic drugs. Disease category of infantile epileptic encephalopathies evolved in 4, i.e. early myoclonic encephalopathy to West syndrome 1, early infantile epileptic encephalopathy to West syndrome 1, West syndrome to Lennox-Gastaut syndrome 2. Psychomotor retardation was seen in 88.2%, with 16.1% having normal development at onset of spasms. Microcephaly was associated with delayed development but did not influence final seizure outcome. Final seizure outcome was poor in children with delayed development at onset (adjusted odds ratio [OR] = 4), delay in diagnosis >12 months (OR = 2.27) and in children with Lennox-Gastaut syndrome (OR = 4.75). ACTH/prednisolone and antiepileptic treatment versus antiepileptics alone showed a good final seizure response in 36.6% versus 20%. Development on follow up was delayed in children with initial psychomotor retardation (OR = 23.4) and abnormal electroencephalogram (OR = 7.46). Perinatal factors constituted one third of symptomatic West syndrome. The use of ACTH/corticosteroids resulted in good initial spasm control though final seizure outcome and development were unaffected. Prednisolone had similar response to ACTH in spasm control but higher subsequent relapse rate. Vigabatrin was useful though often unaffordable. The identification of a neurometabolic etiology, though uncommon, has significant therapy implications. Delay in diagnosis was common and negatively influenced final seizure outcome.

Anticonvulsants↗
PubMed2002

Hypothalamic hamartoma, gelastic epilepsy, precocious puberty--a diffuse cerebral dysgenesis.

Childhood epileptic syndrome characterized by early onset gelastic seizures, hypothalamic hamartoma and precocious puberty is well recognized though rare. We report association of agenesis of corpus callosum, Dandy-Walker complex and heterotopic gray matter with this childhood epileptic syndrome which is hitherto an unreported association. The child showed a satisfactory response to gonadotropin releasing hormone agonist.

Agenesis of Corpus Callosum↗