HEMATOLOGICAL DISORDERS IN DOWN SYNDROME: Ten-Year Experience at a Tertiary Care Centre in North India

A total of 239 cases of Down syndrome (DS) were seen in the genetic clinic between 1992 and 2003, of which of 15 had hematological manifestations at presentation. These comprised 4 cases of transient myeloproliferative disorder (TMD), 3 cases of TMD/acute leukemia, 4 cases of acute leukemia (AL), 2 of dual deficiency anemia, and 1 case each of myelofibrosis and idiopathic thrombocytopenia. This study emphasizes the fact that an abnormal hemogram in a DS patient does not necessarily indicate AL/TMD, as a considerable number of the cases in this study had other hematological abnormalities. TMD can be differentiated from acute leukemia only on follow-up.     

Empyema Thoracis: Analysis of 150 Cases from a Tertiary Care Centre in North East India

Objectives  

To analyze the clinical characteristics, microbiological profile, management, complications and outcome of cases with empyema thoracis.     

Treatment of Acute Myeloid Leukemia in Children: Experience from a Tertiary Care Hematology Centre in India

Objective  

To assess the treatment and outcome of children with acute myeloid leukemia. The Primary objectives were to assess remission rates, treatment related toxicity and disease free survival. Secondary objective was to assess prognostic factors associated with poor outcome.     

Invasive Meningococcal Infection: Analysis of 110 cases from a Tertiary Care Centre in North East India

Objectives

To report an outbreak of invasive meningococcal disease from Meghalaya, in the north east India, from January 2008 through June 2009.

Methods

Retrospective review of case sheets was done. One hundred ten patients with invasive meningococcal disease were included for the study.

Results

Of the total patients, 61.8 % were boys and 38.2 % were girls (boy to girl ratio?=?1.62:1). The average age of presentation was 8.48 ± 5.09 y. Meningococcal meningitis was seen in 61.8 % of cases, meningococcemia in 20 % and 18.2 % had both. Fever was the most common manifestation (100 %) followed by meningeal signs (78.2 %), headache (56.4 %), vomiting (53.6 %), shock (38.2 %), low Glasgow coma scale (GCS) (25.5 %), purpura and rashes (23.6 %), seizures (9.1 %), abdominal symptoms (4.5 %), irritability and excessive crying (4.5 %) and bulging anterior fontanalle (23 %) in those below 18 mo of age. Raised intracranial pressure (ICP) was the most common complication (28.2 %) followed by coagulopathy (16.4 %), hepatopathy (10 %), herpes labialis (9.1 %), syndrome of inappropriate ADH secretion (SIADH) (8 %), pneumonia (7 %), arthritis (6 %), purpura fulminans, respiratory failure, sixth nerve palsy and diabetes insipidus in 4.5 % each, subdural empyema, optic neuritis, ARDS and ARF in 1.8 % each, cerebral salt wasting syndrome, third nerve palsy, cerebritis and hearing impairment in 0.9 % each. Culture was positive in 35.5 %. Patients were treated initially with ceftriaxone and dexamethasone but later on with chloramphenicol due to clinical drug resistance. Mortality was 6.4 %.

Conclusions

This is the first epidemic report of invasive meningococcal disease from the north east India. Chloramphenicol acts well in areas with penicillin or cephalosporin resistance. Mortality reduces significantly with early diagnosis and prompt intervention.     

PERSPECTIVES IN PEDIATRIC PATHOLOGY: Progressive Familial Intrahepatic Cholestasis: A Personal Perspective

Progressive familial intrahepatic cholestasis (PFIC), originally described as “Byler disease” in an Amish kindred, has been distinguished from other forms of cholestatic liver disease in childhood by clinical findings, clinical–laboratory observations, and morphologic studies in biopsy, hepatectomy, and autopsy specimens. Correlation with genetic analyses has permitted both more precise definition of PFIC and distinctions within PFIC. Two types of PFIC now are recognized: PFIC-1, resulting from mutations in a gene called FIC1 (familial intrahepatic cholestasis, type 1), and PFIC-2, resulting from mutations in a gene called BSEP (bile salt export pump). Other forms of PFIC may yet be identified. The roles of FIC1 and BSEP in the secretion of bile acids into bile and in the post-secretory modification of bile are under study. Received September 1, 1999; accepted October 16, 1999.     

Hematological disorders in Down syndrome: ten-year experience at a Tertiary Care Centre in North India

A total of 239 cases of Down syndrome (DS) were seen in the genetic clinic between 1992 and 2003, of which of 15 had hematological manifestations at presentation. These comprised 4 cases of transient myeloproliferative disorder (TMD), 3 cases of TMD/acute leukemia, 4 cases of acute leukemia (AL), 2 of dual deficiency anemia, and 1 case each of myelofibrosis and idiopathic thrombocytopenia. This study emphasizes the fact that an abnormal hemogram in a DS patient does not necessarily indicate AL/TMD, as a considerable number of the cases in this study had other hematological abnormalities. TMD can be differentiated from acute leukemia only on follow-up.     

PATTERN OF RELAPSED DISEASE IN CHILDHOOD ALL: Experience from a Single Tertiary Care Center in North India

The study was designed to determine the pattern of relapsed disease and identify problem areas in management. Relapse occurred in 111 (23.9%) of the boys and 16 (13.0%) of the girls. The majority relapsed while on chemotherapy. Isolated relapse in the marrow and in the CNS was seen in 51 (40.8%) and 24 (18.9%) patients, respectively. Isolated testicular relapse was seen in 17 (15.3%) of the 111 boys who suffered a relapse. Age and TLC at initial presentation and gender in relapsers and nonrelapsers were compared. Multivariate regression analysis showed that gender (p = .03) and TLC (p = .001) were significant predictors of relapse. Relapse of disease while on chemotherapy and high incidence of CNS and testicular relapse indicate the need for reappraisal of treatment protocols.     

Pediatric Hospitalizations Associated with 2009 Pandemic Influenza A (H1N1): An Experience from a Tertiary Care Center in North India

Objectives  

To describe our experience in children hospitalized with the pandemic Influenza A (H1N1) from Northern India.     

X Linked Agammaglobulinemia: A Single Centre Experience from India

The authors report a series of seven cases of X-linked Agammaglobulinemia, diagnosed and receiving treatment at a tertiary care centre in Mumbai. The ages of the patients ranged from 15 mo to 15 y. After diagnosis at a mean age of 3 ½ y, all were advised intravenous immunoglobulin (IvIg) infusion therapy in doses of 400–600 mg/kg every 3–4 wk. They were followed up for an average duration of 9 y, throughout which the complications and overall response to immunoglobulin therapy have been observed. The clinical profiles of each of these cases were retrospectively analysed with respect to age at diagnosis, frequency and severity of infections before and after initiation of treatment, co-morbidities and response to therapy. The results demonstrate the importance of early diagnosis and its correlation with decreased complications.     

Aetiology and Antimicrobial Resistance of Neonatal Sepsis at a Tertiary Care Centre in Eastern India: A 3 Year Study

Objective  

To review aetiological agents of neonatal sepsis and their antibiotic resistance pattern over the past 3 years, at a 20 bedded Level III neonatal intensive care unit (NICU) in eastern India.     

IgM Nephropathy in India: A Single Centre Experience

Objective  

To find out the incidence and natural history of IgMN in India.     

Profile of Typhoid Fever in Children from a Tertiary Care Hospital in Chennai-South India

Aim  

To study the clinical profile and outcome of hospitalized children with typhoid fever.     

Profile of Pediatric Idiopathic Inflammatory Myopathies from a Tertiary Care Center of Eastern India

Objectives

To report data on Idiopathic inflammatory myopathies (IIM) from eastern India.

Methods

All IIM patients diagnosed over the last 5 y (2011–2016) were included through a retrospective review of records from the hospital and specialty clinic at Institute of Postgraduate Medical Education & Research (I.P.G.M.E.&R.), Kolkata.

Results

Out of the 11 IIM patients, 9 had Juvenile dermatomyositis (JDM) and 2 had overlap myositis (OM) [with systemic lupus erythematosus (SLE) and scleroderma]. The overall sex ratio was M: F = 1: 2.6. The mean age at diagnosis was 6.94 y for JDM and 7 y for OM. The mean interval from onset to diagnosis was 5.2 mo. All patients had heliotrope rash and proximal myopathy (n = 11,100%). Other findings included Gottron papule (n = 7; 64%), arthritis (n = 6; 54%), malar rash (n = 5; 45%), dysphagia (n = 4; 36%), nasal intonation (n = 3; 27%), subcutaneous nodule (n = 2; 18%), cutaneous sinus (n = 1; 9%), calcinosis universalis (n = 1; 9%), GI bleed (n = 1; 9%). All patients had raised erythrocyte sedimentation rate (ESR), aspartate aminotransferase (AST), lactate dehydrogenase (LDH) while 10 had raised creatine kinase (CK). Three were anti-nuclear-antibody (ANA) positive. Electromyography (EMG) showed proximal myopathy in most cases (n = 9; 82%). All patients received corticosteroid. Intravenous immunoglobulin (IVIG) was given to 2 patients. Two received hydroxychloroquine. Cyclophosphamide and azathioprine were given in one each.

Conclusions

This study, first reported profile of IIM from eastern India, showed JDM as the commonest form of IIM with a female preponderance. Five children had complete and 2 had partial remission. Two patients of JDM and 1 of OM died. Increased awareness, early referral, prompt diagnosis and treatment might improve the outcome and survival.

     

Scrub Typhus in Children at a Tertiary Hospital in North India: Clinical Profile and Complications

Objective: To study the clinical profile and complications of childhood scrub typhus. Methods: Prospective observational study of 66 children with scrub typhus, admitted to a tertiary hospital in north India, during the period between January 2011 and December 2012. The diagnosis was confirmed by serology. Findings : All children presented with fever. Other common symptoms were vomiting (56%), facial swelling (52%), cough (35%), abdominal pain (33%), breathlessness (29%) and decreased urine output (29%). High grade fever (>101 ^oF) was recorded in 91% of children. Other common signs were hepatomegaly, splenomegaly, edema, tender lymphadenopathy and hypotension, observed in 82%, 59%, 39%, 38% and 36% of cases, respectively. An eschar and a maculopapular rash each were observed in 20% of patients. Meningoencephalitis (30.3%), severe thrombocytopenia (27.2%), shock (25.8%), acute kidney injury (16.7%) and hepatitis (13.6%) were the most common complications observed in these children. Other common complications were acute respiratory distress syndrome, respiratory failure requiring ventilation, bronchopneumonia and myocarditis. Ninety percent of children became afebrile within 48 hours of initiating an appropriate antibiotic. Median time to defervescence was 22 hours. The overall mortality rate was 7.5%. Causes of death were refractory shock, meningoencephalitis, acute respiratory distress syndrome, bronchopneumonia, acute kidney injury and myocarditis. Conclusion: Pediatricians should keep a high index of suspicion for scrub typhus in any febrile child having a maculopapular rash, hepatosplenomegaly, tender lymphadenopathy, thrombocytopenia and features suggestive of capillary leak. Pending serological confirmation, empirical therapy with doxycycline or azithromycin should be started, as delay in treatment would result in life threatening complications.Key Words: Scrub Typhus, Mite, Eschar, Rash, Meningoencephalitis