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When a child is diagnosed with epilepsy, counseling regarding the same is done by the treating doctor. Most parents are frightened and have poor knowledge about epilepsy. Therapeutic advice including drug dosage, administration and side effects takes up the major part of physician's time, thereby neglecting important issues like home seizure management, follow up and others. These lacunae in knowledge require systematic patient and family education. To address these issues, an expert group meeting of pediatric neurologists and epileptologists in India along with social workers/epilepsy educators, legal experts, parents, and teachers was held. The various aspects regarding parental counseling in children with epilepsy were discussed and a consensus document was formulated. Here authors present the group consensus statement on counseling parents and caregivers of children with epilepsy. This document is intended to help physicians and pediatricians counsel the families when a child is diagnosed with epilepsy.

Objectives: The use of leaded petrol was prohibited in the Delhi city by the end of 1998. To determine the impact of use of unleaded petrol, this cross-sectional study was conducted to determine blood lead levels in primary school children., Methods: Blood lead levels were estimated in 300 school children aged 6 to 10 y. The data regarding clinical features and putative risk factors for high blood lead levels was also collected., Results: Of the 300 children, 36 (12 %) had high blood lead levels. Of the 36 children, 32 had blood lead levels between 10 and 19 μg/dl, 4 had 20-44 μg/dl and none had levels >45 μg/dl. Factors such as exposure to peeling paint, recent renovation of housing and near-distance of house to main road were significantly associated with high blood lead levels., Conclusions: There is significant prevalence of high blood lead levels in school children in Delhi, even after with prohibition of use of leaded petrol.

Visual field defects and other abnormalities are reported in patients receiving the newer antiepileptic Vigabatrin (VGB). Field testing in children younger than 6 years and those with mental retardation is difficult. The authors, therefore, studied ophthalmoscopic abnormalities in seven pediatric patients receiving VGB for median duration of 9 month (range, 3-32 months). Abnormal findings were seen in two (33.3%) in the form of surface wrinkling retinopathy and abnormal macular reflexes. The proportion of abnormal findings was in agreement with previous reports. Thus it is concluded that simple ophthalmoscopy by an ophthalmologist picks up the abnormalities due to ocular toxicity of VGB, and helps in rationalizing further AED therapy in the clinic.

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 equipment and trained personnel). Continuous EEG monitoring was done throughout the infusion and till 20 min later, to look for correction of EEG abnormalities. All patients were then prescribed oral pyridoxine, 10-15 mg/kg/day divided TDS for 6 weeks, in addition to their current anticonvulsant therapy. Patients were reviewed every 15 days regarding compliance and change in seizure frequency. A reduction in seizure frequency by 50% of the baseline was considered as 'response' (significant change), meriting further continuation of pyridoxine therapy. In patients who remained seizure free on pyridoxine therapy, previous anti-epileptics were gradually tapered one by one., 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.

Objective: To study role of Tissue Doppler imaging (TDI) in identification of cardiomyopathy before development of ventricular dysfunction., Methods: Twenty-five patients with Duchenne's (DMD) and 10 with Becker's (BMD) muscular dystrophy along with 20 controls were evaluated using TDI., Results: Pulse Tissue Doppler signals of the lateral left ventricle wall (lateral mitral annulus) revealed reduced systolic velocities in the DMD patients (mean +/- SD: 7.8 +/- 1.1 cm/sec vs. 8.6 +/- 1.1 cm/sec in controls) in patients of DMD. 60% of the non ambulatory DMD (ejection fraction 45+/-9%) patients had mild LV dysfunction and reduced systolic velocities (6.96 +/- 1.7 cm/sec, p<0.05 vs controls). The ambulatory DMD patients also had reduced systolic velocities (7.8 +/- 1.1 cm/sec) though ejection fraction was normal. Reduced tissue Doppler systolic velocities in the ambulatory DMD patients with normal conventional echocardiography would suggest that perhaps some of these patients (20% had velocities less than Mean - 2 SD of controls) have early myocardial dysfunction (picked up only as abnormal myocardial velocities)., Conclusions: TDI picked up systolic dysfunction of the lateral wall in DMD even when overall LV function was normal conventional echocardiography. Tissue Doppler imaging is a useful technique to pick up early ventricular dysfunction and should be evaluated in larger studies and also with other techniques like magnetic resonance imaging.

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.

Objective: To prospectively assess the outcome of children diagnosed with Guillain-Barré syndrome (GBS), followed up for a median duration of 25 months., Methods: Tertiary center, prospective follow up of children with GBS enrolled between, Dec 2003 to Sep 2006. Functional recovery was determined at 12 months and later using Hughes scale (0-6). Clinical, electrophysiological variables were compared between the good outcome (grade 0/1) and bad outcome groups (died or functional grade >1)., Results: Among 52 children with a median age of five yr there was male preponderance (75.4%). Mortality during acute phase was 11.5% (6/52). Among the survivors long term data was obtainable in 40 of the 46 children. At one year follow up 87.5% children had fully recovered or had minimal symptoms, beyond one year this rose to 95%. Only 2 among 40 had significant symptoms at last follow up (1 grade-2 and 1 grade-3). Factors significantly associated with poor outcome were: need for artificial ventilation, inexitable nerves on nerve conduction testing and delayed independent walking., Conclusion: Children needing ventilation have the worst short-term prognosis. However, irrespective of severity during acute phase, good long-term recovery can be expected in most children.

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.

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.

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.

A 6-year-old girl who presented with developmental delay and non-progressive ataxia is described. MRI of brain showed agenesis of cerebellar vermis with fusion of cerebellar hemispheres and dentate nuclei. MRI findings were characteristic of rhombencephalosynapsis. Partial agenesis of corpus callosum and absent septum pellucidum were also seen. The child had also been noted to have a single umbilical artery at birth: a hitherto undescribed association.

Following trauma, the commonly used radiological investigations, plain radiographs and computed tomography (CT) studies do not rule out injury to the spinal cord. This is especially true for children, as an entity known by the acronym SCIWORA (spinal cord injury without radiological abnormality) exists and the changes may be picked up only on magnetic resonance imaging (MRI). Early treatment (within 6 hours) with high dose methylprednisolone improves the outcome. Spinal trauma being common it is possible that the burden of neurological handicap following this can be reduced by increasing awareness and early treatment with steroids. In the community, pediatricians are often the first medical contact after spinal trauma and awareness of the lacune of conventional imaging techniques is important especially if clinical symptoms pertaining to the spine are present. The community pediatrician is hereby made aware of the need to investigate spinal trauma with a MRI for possible SCIWORA situation as it generates a possibility for therapeutic intervention to alter the outcome positively.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Childhood muscular dystrophies have a wide clinical spectrum, motor disability and are variably inherited. Although the phenotype may appear similar they may represent distinct genetic entities. Advances in immunohistochemistry, gene deletion and linkage studies have enabled precise characterization. We report a family with an early onset weakness and calf pseudo hypertrophy in 2 male sibs with an usually mild course. Deletion screening was negative for 24 exons of the DMD gene in both. Muscle immunohistochemistry revealed normal dystrophin I and II staining but complete absence for adhalin, a dystrophin associated glycoprotein. Classifying them as adhalinopathy. Severe childhood autosomal recessive muscular dystrophies (SCARMD) result from mutation in the sarcoglycan complex (59). Adhalinopathy is now used to describe SCARMD. The adhalinopathy described in our patients is the first report from India.

Myotonic muscular dystrophy is the most frequent autosomal muscular dystrophy affecting adults and children. It affects multiple organ systems and is probably the best example of variable expressivity in a human disease. This article presents a patient with congenital myotonic dystrophy who had facial dysmorphism, hypotonia, talipes, feeding and respiratory difficulties in the neonatal period and later presented to us with developmental delay and had percussion myotonia. His mother had clinical and electrophysiological features of myotonia. Expansion of unstable CTG trinucleotide repeat in the myotonic protein kinase gene was demonstrated in both. The identification of this molecular defect allows its specific diagnosis in relation to other neuromuscular disorders as well as accurate prenatal diagnosis.

Mitochondrial disorders are multisystem diseases with very heterogeneous clinical manifestations. Common cardiac features include cardiomyopathy and conduction defects. We report a five-year-old boy who presented with signs of congestive cardiac failure and was diagnosed to have dilated cardiomyopathy. Six months later, he developed progressively worsening ataxia, hypotonia, other cerebellar signs, hearing loss, severe sensory peripheral neuropathy and lactic acidosis. Electronmicroscopy of skeletal muscle biopsy was consistent with mitochondrial myopathy.

Hypocalcemia is a rare, but reversible, cause of congestive heart failure. We report a 4-month-old boy diagnosed as dilated cardiomyopathy who had prolonged QoTc with low blood levels of calcium, normal phosphate, elevated alkaline phosphatase and findings suggestive of rickets. In view of non response to calcium and vitamin D3, a possible diagnosis of VDDR I (Vitamin D-dependent rickets) was made and he was treated with calcium and calcitriol. The serum calcium levels normalised within 10 days, along with resolution of the signs and symptoms of heart failure, near normal left ventricular function and normalisation of QoTc. Pediatricians should be aware of the association of hypocalcemia with cardiac dysfunction and should keep it as a possible reversible cause of heart failure in children.

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.

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.

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.

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.

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.

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.

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.

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.

Two rare cases of colorectal adenocarcinoma seen during the last 3 years in children under 10 years of age are reported. To improve survival, emphasis is given on its early diagnosis by a thorough examination and investigation of the child in every case of prolonged bleeding per rectum, diarrhoea and other non specific abdominal symptoms.

The present study is a review of patients with pyogenic meningitis diagnosed by clinical and laboratory criteria in which CT scan was done to detect acute phase CT abnormalities with respect to post inflammatory hydrocephalus and ventriculomegaly. Fifty-six patients were identified between 1993 and 1996 in the Department of Pediatrics at the All India Institute of Medical Sciences, New Delhi. A CT scan was available in 30. The diagnosis was compatible with a definitive pyogenic meningitis in 17 and probable pyogenic meningitis in 13. The acute stage CT scans performed within the first four weeks of illness revealed ventriculomegaly in 10 out of 30 bacterial meningitis (33%), (41.1% of definitive meningitis compared to only 23% of the probable meningitis group). Follow-up CT scans revealed persistent ventriculomegaly in 2. Both patients with persistent ventriculomegaly had frontal atrophy. None of the patients merited a shunt or any medical measures. Cortical atrophy as an aftermath of acute bacterial meningitis may cause persistent ventriculomegaly. The frontal cortex localization may explain the frequency of seizures and other sequelae observed in pyogenic meningitis. An early recognition may help to prognosticate patient outcome.