Anaplastic large cell lymphoma presenting as an endobronchial mass with lung involvement in an adolescent boy

Primary endobronchial presentation of anaplastic large cell lymphoma is rare in the paediatric age group. We present a 12-year-old boy with breathlessness, fever, cough and weight loss, who was misdiagnosed as a case of tuberculosis and started on antitubercular therapy, which showed no improvement. Chest X-ray showed a completely opacified left hemithorax and chest computed tomography revealed a mass encircling the left main bronchus with collapse– consolidation of the left lung. Fibreoptic bronchoscopy revealed a growth in the left main bronchus. Subsequently, fine-needle aspiration cytology and biopsy from the mass confirmed it to be a malignancy consistent with anaplastic large cell lymphoma. Metastatic work-up revealed no other sites of involvement. Chemotherapy resulted in rapid and complete regression of the tumour. No evidence of local or distant recurrence was reported after 18 months of follow-up. Clinicians and pathologists should be aware of this presentation as prompt diagnosis and treatment can give promising results. This case highlights the importance of timely tissue diagnosis in patients with non-resolving pyrexia and organ lesions on imaging.

Diagnosis of Invasive Fungal Infections in Children

Invasive fungal infections are important causes of morbidity and mortality particularly in high-risk patients. Recognizing such infectionsis often difficult because of non-specific symptoms and clinical signs. Timely diagnosis is also a challenge due to difficulty in obtainingadequate volume of samples, need for anaesthesia to perform certain diagnostic procedures, and insufficient data and experiencerelated to fungal biomarkers and molecular detection tests. This results in widespread use of empiric broad spectrum antifungal agentswith the consequent emergence of drug-resistant strains. This review focusses on the definition, clinical and microbial profile anddiagnostic modalities for invasive fungal infections.

Galactomannan Antigen Test for Early Diagnosis of Invasive Aspergillus Infection in Pediatric Febrile Neutropenia

Invasive aspergillosis is a major concern in neutropenic patients.We studied the utility of Galactomannan antigen detection test inserum using ELISA technique for early detection of invasiveaspergillosis. Diagnostic accuracy of Galactomannan index (GMI)test was maximum at a cut-off of > 1.5 with a negative predictivevalue of more than 95%

Clinical outcome and regression patterns of retinoblastoma treated with systemic chemoreduction and focal therapy: A prospective study.

Purpose: To prospectively study the clinical outcome and regression patterns of early retinoblastoma (Groups A and B) after systemic chemotherapy and focal consolidation in Indian children. Materials and Methods: Group A eyes were treated with focal therapy (transpupillary thermotherapy/cryotherapy) and Group B with systemic chemoreduction and focal therapy. Outcome measures were efficacy and safety of treatment, risk factors for treatment failure, regression patterns, and factors predictive of regression patterns. Results: Of 119 eyes (216 tumors), 14 (11.8%) were Group A and 105 (88.2%) were Group B eyes. The mean follow‑up was 22.6 months. Tumor control was achieved in 111/119 eyes (93.3% overall, 100% Group A, 92.4% Group B). Eight Group B eyes (6.7%) had treatment failure. No serious systemic side‑effects were noted. Risk factors for failure included larger tumors (P = 0.001) and proximity to posterior pole (P = 0.014). Regression patterns were Type 4 (50.2%), Type 3 (31.7%), Type 1 (11.1%), and Type 2 (7%). Factors predictive of Type 4 regression were smaller tumors, anterior location, younger age; Type 3 regression was associated with larger tumors, macular location, and older age. Conclusions: Systemic chemoreduction and focal therapy provided effective tumor control in Indian children. Factors predictive of regression patterns included age, tumor size and its location, and the modality of treatment.

Thoracic neuroblastoma presenting as recurrent empyema.

Neuroblastoma is the most common intra-abdominal and extracranial solid tumour in children, accounting for 7%–8% of all childhood cancers. It is a malignant tumour of the autonomic nervous system derived from the neural crest. Most children with neuroblastoma have distant metastatic disease at the time of diagnosis. Pulmonary metastasis at the time of diagnosis is rare, and rarer is the presence of associated pleural effusion. We present the case of a child with recurrent empyema, who was diagnosed to have a thoracic neuroblastoma.

Clinical Profile and Outcome of Swine Flu in Indian Children.

Objective: To describe the clinical characteristics and outcome of Indian children infected with 2009 H1N1 influenza virus. Study design: Retrospective chart review. Setting: Outpatient department and hospitalized patients in a tertiary care hospital. Methods: Clinical details of 85 children (positive for the 2009 H1N1 virus infection tested by real-time reversetranscriptase– polymerase-chain-reaction assay) were analyzed from medical charts. Results: Of the 85 (55 boys) children positive for 2009 H1N1 virus infection, 64.7% were between 5 years to 16 years, and 35.3% were below 5 years age. The mean age of these children was 7.5±3.5 yr. Contact history was positive only in 22 (26%) cases. High grade fever was the most common symptom, followed by cough and rhinorrhea. Twenty-nine (34%) patients had an underlying co-morbid condition. Of the 34 patients who underwent chest radiography during evaluation, 18 children (52.9%) had findings consistent with lower respiratory tract infection. Antiviral therapy was initiated in 76 patients. Hospitalization was required in 30 (35.3%) children. Risk factors for hospitalization included underlying co-morbid condition, respiratory distress, vomiting, wheezing, diarrhea, hypotension and infiltrates/consolidation on chest radiograph. Mean length of hospitalization was 131+76 hours, irrespective of underlying disease. Three children developed Acute Respiratory Distress Syndrome and died. Conclusions: Clinical features and routine laboratory investigations in children with swine origin influenza were non-specific. Children with co-morbid condition, respiratory distress, vomiting, wheezing, diarrhea, hypotension and infiltrates/consolidation on chest radiograph were at higher risk of hospitalization.

Efficacy of Pyridoxine in Early-Onset Idiopathic Intractable Seizures in Children.

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.

Screening for cardiomyopathy in muscular dystrophy with tissue doppler imaging.

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+1.1cm/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.

Clobazam in refractory childhood epilepsy.

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.

'Primary cutaneous mucormycosis during induction chemotherapy in a child with acute lymphoblastic leukemia'.

We report a child with acute lymphoblastic leukemia who developed primary cutaneous mucormycosis at the site of lumbar puncture during induction chemotherapy. Though high mortality rates are reported with invasive mucormycosis, prompt biopsy, early identification and antifungal therapy using a combination regime of amphotericin-B and rifampicin along with extensive surgical debridement led to complete cure of the lesions in the index case.

Intraventricular neurocysticercosis.

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.

Failure of prophylactic zinc in Wilson disease.

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.

Multicentric Castleman's disease in two cases.

Castleman's disease is an atypical lymphoproliferative disorder having two types of presentation--the localized and the multicentric form. The localized form presents as a slowly growing mass with a relatively benign course. Multicentric Castleman's disease has a more aggressive clinical course with diffuse lymph node enlargement and systemic illness. It is rarely seen in childhood and only thirteen cases have been reported in literature. This is the first report of 2 cases from the Indian subcontinent with a maximum follow-up of 44 months one of whom had asplenia.

Screening for pre-clinical hypertrophic cardiomyopathy by tissue Doppler imaging.

BACKGROUND: Hypertrophic cardiomyopathy is an autosomal dominant inherited disorder. On a routine clinical basis, genetic analysis is both time consuming and impractical at present. Thus, use of tissue Doppler imaging as a surrogate for genetic screening is an attractive option. METHODS AND RESULTS: Fifty-five first-degree relatives of 15 patients with hypertrophic cardiomyopathy were screened. Of them, two were found to have hypertrophic cardiomyopathy and were included in Group 1, which hence had 17 patients with overt hypertrophic cardiomyopathy. Group 2 had 53 family members who did not manifest any overt echocardiographic abnormality. Twenty healthy volunteers comprised Group 3. Doppler tissue myocardial longitudinal velocities were measured in systole and early diastole and with atrial contraction at the medial mitral annulus, lateral mitral annulus, mid lateral wall and mid interventricular septum. The tissue Doppler characteristics were analyzed for the presence of abnormalities suggestive of subclinical myocardial involvement. Myocardial velocities were highest in the normal control group and lowest in the hypertrophic cardiomyopathy group. The velocities of the relatives without overt hypertrophy were intermediate in range. Of the 53 relatives screened, nine (17%) subjects showed tissue Doppler abnormality in the systolic and early diastolic velocities at the medial and lateral mitral annulus suggestive of a possibility of pre-clinical hypertrophic cardiomyopathy and a carrier state for a hypertrophic cardiomyopathy. Twenty-two of the 53 screened members had a mean early diastolic velocity less than 13.5 cm/s, among this group 9 had an ejection fraction more than 68%. These findings suggest that at least 16.7% of the screened population may carry beta-myosin heavy chain mutation. CONCLUSIONS: Screening for hypertrophic cardiomyopathy is feasible and tissue Doppler imaging is a sensitive and easy means to detect subclinical myocardial involvement in apparently normal family members without overt hypertrophy.

Autism -- experiences in a tertiary care hospital.

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.

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.

Micropulmonary arteriovenous fistula causing cyanosis.

This article presents a young girl who came to the Department of Pediatrics, AIIMS, with cyanosis and was diagnosed to be having multiple pulmonary arteriovenous fistulae. The cardiovascular evaluation was normal and so was the respiratory evaluation. The desaturation did not improve with oxygen. The chest X-ray was also normal. The echocardiogram did not reveal any abnormality but agitated saline contrast echocardiography suggested an extracardiac right to left shunt which was confirmed on pulmonary angiography.

Diagnostic criteria for Tuberculous Meningitis.

OBJECTIVE: Tuberculous Meningitis is associated with a high morbidity and mortality if there is a delay in diagnosis. The diagnosis is based on clinical evaluation since the bacteriological diagnosis takes time and has a low yield. This study attempts to validate these criteria in children with TBM. METHODS: Forty-two children clinically suspected to have TBM were enrolled in the study. History, examination, CT scan and CSF findings were utilized to categorize patients into "definite", "highly probable", "probable" and "possible" TBM based on the criteria laid down by Ahuja et al. The validity of these criteria was tested against bacterial isolation and response to treatment. RESULTS: Thirty one children, with complete data, were included for analysis. Using "improvement on therapy as a criterion for definite TBM, we analyzed the sensitivity and specificity of the Ahuja criteria in diagnosing TBM. Using the criteria of "highly probable" TBM, the sensitivity was 65% with a specificity of 75%. When the criteria of "probable" TBM were used, the sensitivity increased to 96% while the specificity dropped to 38%. In an attempt to make these criteria more appropriate for children, we modified the criteria by including mantoux reaction, and family history of exposure in the criteria. The modified criteria gave a sensitivity of 83% and a specificity of 63%. DISCUSSION: A sensitivity of 65% (highly probable group) implies that 35% of TBM patients will be missed, while the probable criteria gave a 63% false positive rate suggesting that the trade-off for a higher sensitivity makes the criteria very unreliable. Our modification of the criteria gave us a reasonable sensitivity of 83% with a higher specificity of 63%. The false positive rate was also reduced to 38%. Thus the modified Ahuja criteria worked better for children with TBM. CONCLUSION: The modified Ahuja criteria are better applicable for use in pediatric patients with TBM . Since the number of patients was small in this study, the study needs to be validated with a larger sample size.