Profile of hemophagocytic lymphohistiocytosis; efficacy of intravenous immunoglobulin therapy.

OBJECTIVE: To study the profile of children with Hemophagocytic lymphohistiocytosis (HLH) and compare the outcome of treatment with intravenous immunoglobulin therapy and Dexamethasone vs. HLH-2004 protocol. METHODS: The present retrospective cohort study was conducted in a tertiary care pediatric hospital in Chennai. Children with a diagnosis of HLH admitted to the hospital from June 2008 through June 2011 were included. Medical records of the subjects were reviewed and their clinical and demographic profile studied. Difference in outcome between treatment modalities was analysed. RESULTS: Of the 40 children studied, all had fever of 38.5 °C for more than 7 d. Splenomegaly was noted in 25 children at admission, but eventually occurred in all the patients. All children had bicytopenia. Mean laboratory values were as follows- neutrophil count 3,400/cu.mm, hemoglobin 8.75 g/dl, platelet count 84,000/cu.mm, fasting triglycerides 358 mg/dl, ferritin 8,139 mg/dl and fibrinogen 137 mg/dl. All children had evidence of hemophagocytosis in bone marrow smear. Good outcome was seen in 19/22 children treated with IVIG therapy (Group 1) vs. 10/12 children treated with HLH-2004 protocol with etoposide, cyclosporine and Dexamethasone (Group 2), P = 1.00. Good outcome was seen in 4/6 children treated with IVIG therapy followed by HLH-2004 protocol (Group 3). Serum ferritin levels of more than 3,000 mg/dl were present in 13 children. In this group, good outcome was seen in 7/8 patients treated with IVIG vs. 4/5 treated with the HLH-2004 protocol (P = 1.00). CONCLUSIONS: IVIG and HLH-2004 protocol may be equally effective in the management of HLH. IVIG may be a preferable initial regimen, to avoid the risk of secondary malignancy associated with etoposide.

Thiamine responsive megaloblastic anemia syndrome.

Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.

Imerslund-Grasbeck syndrome: association with diabetes mellitus.

A 14 year male adolescent born of 2nd degree consanguineous marriage presented with asymptomatic proteinuria and severe anemia. He had leucopenia, anisopoikilocytosis, megaloblastic erythropoiesis, megakaryocytes with low serum B12 level. His younger sibling was similarly affected. This combination suggested Imerslund-Grasbeck syndrome. The hemoglobin levels improved with injection of vitamin B12 but proteinuria persisted. During follow-up, he developed ketoacidosis due to insulin dependent diabetes mellitus. This rare combination has not been reported in the Indian literature.

A profile of bacteriologically confirmed pulmonary tuberculosis in children.

OBJECTIVE: To describe the clinical profile of children with bacteriologically confirmed tuberculosis. STUDY DESIGN: A multicentric study was conducted in three hospitals in Chennai city between July 1995 and December 1997. Children aged 6 months to 12 years with signs and symptoms suggestive of tuberculosis were investigated further. Clinical examination, chest radiograph, tuberculin skin test with 1 TU PPD and, sputum or gastric lavage for mycobacterial smear and culture were done for all and, lymph node biopsy when necessary. RESULTS: A total of 2652 children were registered and tuberculosis was bacteriologically confirmed in 201. Predominant symptoms were history of an insidious illness (49%), fever and cough (47%), loss of weight (41%) and a visible glandular swelling (49%). Respiratory signs were few and 62% were undernourished. Over half the patients with confirmed TB had normal chest X-ray. Abnormal X-ray findings included parenchymal opacities in 47% and hilar or mediastinal lymphadenopathy in 26%. The prevalence of isoniazid resistance was 12.6% and MDR TB 4%. CONCLUSIONS: Children with tuberculosis present with fever and cough of insidious onset. Lymphadenopathy is a common feature even in children with pulmonary TB. A significant proportion of children have normal chest X-rays despite positive gastric aspirate cultures. Drug resistance rates in children mirror the pattern seen in adults in this geographic area.

Psychosocial problems in families of children with cancer.

OBJECTIVE: The aim of this study is to assess the effect of diagnosis of cancer on the parents, to study the coping response adopted by the child and the family and to evolve counseling strategies. METHODS: Prospective questionnaire based. Thirty-four parents of children suffering from cancer were included, of which 15 belonged to joint families and 19 to nuclear families. RESULTS: The family support played an important role in giving emotional sustenance, besides shared care of the child, the sibling and the household. Emotional and psychological impact was maximum on the mothers. Siblings of the cancer child were also affected both by way of behaviour problems and school performance. Behaviour problems in the cancer child included temper tantrums, as also verbal and physical abuse of mothers. Group therapy was useful for sharing emotional trauma and exchanging day to day problems of childcare. Positive outlook helped in better care of the cancer child. CONCLUSION: The family structure was the foundation for emotional and psychological security. Psychological support by professional tumour support group would enhance this.

Crohn's disease presenting as palatal ulcer.

Crohn's disease (CD) in children younger than 5 years of age is termed as early onset inflammatory bowel disease (EO-IBD). We report a 4 yr 6 mo-old child with EO-IBD, who presented with palatal ulcer, an extra intestinal manifestation of Crohn's disease as the dominant feature.

Benign acute childhood myositis.

OBJECTIVE: To describe the clinical and laboratory features of benign acute childhood myositis. METHODS: 40 children of BACM were seen during October 2001 to February 2002, 22 (52%) were male with mean age of 5.3 years. Duration of illness was 3.97 days. Preceding symptoms included fever, leg pain, vomiting and inability to walk. A provisional diagnosis of viral myositis was made in 26 (66%). Guillian Barre Syndrome was the most common referral diagnosis. RESULTS: 11 (27.5%) children had leucopenia with lymphocytic response and 16 (40%) had thrombocytopenia. CRP was negative in 32 (80%). CPK was markedly elevated (more than 1000 IU/l) in 18 (45%) and more than 500 IU/l in 11 (27.5%) remaining between 200 to 500 IU/l. Associated features were hepatitis (elevated SGOT & SGPT) in 28 (70%) and shock in 5 (12.5%). Serological test were indicative of dengue virus (Elisa PAN BIO) in 20 (50%) of which 8 (25%) were primary dengue and 12 (30%) were secondary dengue. The outcome of therapy mainly supportive were excellent. CONCLUSION: Benign acute myositis occurs often in association with viral infection. In the present study, Dengue virus was positive in 20 (50%) children. Benign acute myositis can be differentiated from more serious causes of walking difficulty by presence of calf and thigh muscle tenderness on stretching, normal power and deep tendon reflex and elevated CPK.

Importance of screening the peripheral smear.

A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent beta hypo protein band. Jejunal mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.

Pediatric presentations of leptospirosis.

OBJECTIVE: Leptospirosis in children is an often under diagnosed condition due to the non specificity of the presentations except for the classical Weil's disease. METHODS: Children presenting with symptoms and signs suggestive of Leptospirosis were included in the study. Diagnostic criteria were fever, myalgia, conjunctival suffusion, Jaundice, headache, altered sensorium, seizures, bleeding manifestation and oliguria. Their clinical profile, lab parameters (general and specific), response to treatment and outcome were analysed. RESULT: One hundred and thirty nine cases were diagnosed during a 4-year period. The commonest symptoms were fever 133 (96%), headache and myalgia 34 (24%). Jaundice was present in only 25 (18%) of cases with renal failure in 2 cases. The frequently encountered clinical signs were hepatomegaly in 100 (72%), myalgia in 34 (24%) with icterus in 25 (18%), 12 (9%) of children presented with shock and 10 (7%) had meningitis. CPK estimated was a useful index of myositis. The diagnosis was confirmed by Dark field microscopy and paired or single high serological tests (MAT, ELISA IgM). Overlapping infections such as culture positive Salmonella typhi with leptospirosis (Serology positive) or Dengue Hemorrhagic fever with Leptospirosis presented with complications such as a myocarditis, shock and ARDS. CONCLUSION: Presentation of non-icteric forms of Leptospirosis are often non-specific and may be missed unless there is a high index of suspicion. This study emphasizes the myositis and meningitis forms of leptospirosis. Delayed diagnosis leads to increased mortality and morbidity.