HO/17(P) PYRUVATE KINASE DEFICIENCY: A CASE REPORT
Nomeeta Gupta, Rajiv Kumar, Deepali Gaur, Vijay Arya
Department of Pediatrics, Batra Hospital & Medical Research Centre, New Delhi-110062.
Erythrocyte pyruvate kinase (PK) deficiency is a rare cause of neonatal hyperbilirubinemia. We report an infant with neonatal hyperbilirubinemia due to PK deficiency. The initial approach involved rapid evaluation, phototherapy and close monitoring of serum bilirubin levels. Case Report: A male baby referred to our tertiary level NICU with history of meconium stained liqor and respiratory distress at 6 hours of life. He was born to a multigravida mother at term, weighing 2.9 Kg, by normal vaginal delivery following an uneventful pregnancy and labor. There was no significant antenatal history. There was past history of intrauterine death. On examination, he was sick, tachypneic and had mild pallor with icterus. The heart rate was 110/minute; respiratory rate was 64/minute with recession. Intrauterine congenital infections, G-6-PD deficiency and pyruvate kinase deficiency were suspected. Laboratory investigations revealed Hb 8.1 gm%, TLC 24,230/mm3 with 73% neutrophils, 24% lymphocytes, 2% monocytes and 1% eosinophil, ESR 58 mm, reticulocyte count 45% and platelet count 80,000/mm3. PT and PTT were normal. Malarial thick and thin smears were negative. Total and conjugated serum bilirubin was 14.9 mg% and 4.8 mg% respectively. Liver enzymes were elevated. Serum electrolytes were normal. Serological tests for VDRL, syphilis and HIV were negative. Hepatitis B surface antigen and hepatitis C antibody were negative. CMV IgG and HSV IgG were positive. G-6-PD level was normal. He was evaluated for hemolytic disease of newborn. Direct and indirect Coomb’s test was negative He developed jaundice and double volume exchange transfusion done on first day of life. Post-exchange laboratory investigations revealed Hb 10.4 gm%, total serum bilirubin 6.4 mg%, conjugated serum bilirubin 2.7 mg% and serum calcium 10 mg%. He was started on intravenous fluids, IV antibiotics; packed cells transfusion and intensive double surface phototherapy were given. He was discharged after 7 days of admission. At the time of discharge, the infant was clinically better and there was mild icterus. Total and conjugated serum bilirubin was 5.8 mg% and 2.1 mg% respectively; Hb 13.6 gm% and reticulocyte count 26%. He was tolerating feeds well. A quantitative pyruvate kinase screening was done at age of 2 months. The child was diagnosed as a case of pyruvate kinase deficiency.
HO/18(P) THALASSEMIC CHILDREN – INITIAL EXPERIENCES FROM A NEW THALASSEMIA CENTRE.
Peeyush Jain, R P Mathur, Dinesh Negi, Preeti, Madhu Jain
Thalassemia Day Care Center, Kasturba Hospital, Delhi-6
Thalassemias are one of the commonest group of chronic disorders needing repeated blood transfusions. Specialized thalassemia centers are however few in number. One such Thalassemia day care center was started in Kasturba Hospital, Delhi in Jan 2004. The demographic profile, clinical features and followup of the registered children is being presented. Thirty three thalassemic children with a mean(sd) age at presentation of 4.58(3.3) yrs with M:F ratio of 2.1:1 are receiving regular blood transfusions. The children were predominantly from Hindu(48.5%), Muslim(35.5%) or Punjabi(9.7%) families. The mean(sd) age at diagnosis was 13.7(11.6) months with an age range of 3-48 months. One third (10) of the patients had been diagnosed at or before the age of 6 months. Twenty six (83.8%) patients had been receiving transfusion before coming to the center for a median(range) duration of 32(6-113) months. At least 1/5th (6) of the patients had hepatosplenomegaly of moderate degree at presentation. At the center the children have been given median(range) of 27(2-37) transfusions at a median(range) interval of 0,75(0,5-2.4) months. The ferretin levels (mean(sd)) were 2067.9(1107.9) ng/ml after transfusions for mean duration of 48.4 months. None of the children had any major transfusion reactions. Knowledge regarding thalassemia in the perspective of its high incidence in this region and. ease of blood transfusions is important for early diagnosis and management of the disease.
HO/19(O) THYROID FUNCTION AND ITS ROLE IN GROWTH FAILURE IN CHILDREN WITH THALASSEMIA MAJOR
Rajwanti . K. Vaswani , Vishal . O. Mukhija
Deptt of Pediatrics, Seth G. S. Medical College and K.E. M. Hospital, Mumbai-400012
Introduction: Growth abnormality, a common complication in children with thalassemia major is attributed to various factors ; one of them being thyroid hormone dysfunction. However exact association has not been established. Objectives: To assess thyroid function in children with thalassemia major, study its role in growth failure and to assess the correlation between the iron overload and thyroid function. Design: Prospective study Setting: Pediatric ward of a tertiary care centre. Methods: Fifty thalassemic patients recieving regular transfusions for last 5 years were investigated together with ten age and sex matched controls. Physical growth was expressed by height and weight percentiles (NCHS standards) and skeletal maturation was assessed by radiographs of wrist and elbow. Thyroid function was assayed using radioimmunoassay. Pearson’s chi-square test and and unpaired ‘t’ test were used to analyse the resuts Results: Of 50 thalassemic patients, subclinical primary hypothyroidism was detected in 18% of cases. A stastical significant correlation (p<0.05) between hypothyroidism and serum ferritin levels was observed. Likewise, there existed a significant correlation (p<0.05) between hypothyroidism and liver span. Weight, height and bone ages were significantly retarded (p<0.001) in all cases as compared to chronological age. Weight age and height age were markedly retarded in hypothyroid cases yet the difference was not stastically significant. However there was a significant difference (p<0.05) in the bone age retardation in thalassemics with hypothyroidism. Conclusion: There is a high prevalence of subclinical hypothyroidism in children with thalassemia major but it is not the sole cause of growth failure. A significant correlation between reduced thyroid function and iron overload emphasizes the need of intensive chelation therapy.
HO/20(P) MATCHED UNRELATED BMT IN A CHILD WITH FANCONI ANAEMIA WITH AML (M7)
Nalini K Pati, Peter J Shaw,
BMT Unit, Department of Oncology, The Royal Alexandra Hospital for Children Westmead, Sydney, Australia
Fanconi anaemia (FA) is an autosomal recessive chromosomal instability disorder, which is characterized by congenital abnormalities, defective haemopoiesis and a high risk of developing acute myeloid leukaemia (AML) and certain solid tumours. However the experience in world literature in Fanconi anaemia patients with AML proceeding to transplant is rare. We describe a 14 year old boy diagnosed as Fanconi’s anaemia at birth, and presented to the hospital with high platelet count. This child was diagnosed as Fanconi’s anaemia at birth with multiple birth defects-Skeletal dysmorphism including Poly dactyly, facial bone hypoplasia and various other malformations like PDA, VSD and abnormal kidneys. Cardiac malformations were repaired in infancy. A detailed genetic work up was done including chromosomal breakage study with mitomycin C and diepoxy butane which had confirmed the diagnosis of Fanconi anaemia. He was followed up in the Haematology clinic. Though he was maintaining low blood counts, but never required transfusion in childhood. He was suggested for a matched unrelated BMT at the age of 8 years but unfortunately was lost to follow up for 5 years. He came to the hospital with easy fatigability and a platelet count of 995 thousands. Bone marrow evaluation revealed a very high blast count of 60% with abnormal looking megakaryocytes all through out. Flow Cytometry was showing positive markers for CD13-73%, CD33-73%, CD41-69%, CD34-73%, CD7-86%, CD10-2%, and CD19-20%; which is consistent with AML (M7). Cytogenetic study including FISH was normal. Molecular study was negative for the translocations-t (15; 17), t (8; 21), Inv16. Since he had a high positive marker for CD 33, the therapy was initiated with 2 doses of Hydroxy Urea and the anti CD 33 monoclonal Antibody (Gemtuzumab).A urgent planning was made for the MUD BMT. After 2 doses of Gemtuzumab his platelet count became normal. Considering the persistence of high leukaemic load in the marrow, he was given one cycle of mini FLAG prior to his stem cell transplantation. He tolerated the conditioning chemo therapy well and doing fine through his Bone marrow transplantation.
HO/21(P) AN UNUSAL CAUSE OF ABDOMINAL MASS IN CHILD
Anup Mohta, Rajeev K Singh, Sunil Kumar
Guru Teg Bahadur Hospital and associated University College of Medical Sciences, Dilshad Garden, Delhi
Aim: To present a case of unusual cause of mass abdomen in a child. Mehtods: A nine years old girl was admitted to the hospital with complaint of fever, weakness, failure to thrive and lump in the right side of upper abdomen. She had severe anaemia, raised erythrocyte sedimentation rate and increased γ-globulins with hypoalbuminaemia. Radiological investigations revealed a soft tissues retroperitoneal mass. Ultrasound guided aspiration cytology suggested a lymphoid neoplasm but the definitive preoperative diagnosis could not be confirmed. Results: Histopathology of the surgically resected mass from transverse mesocolon showed plasma cell type of Castleman’s disease. Conclusion: Diagnosis of Castleman’s disease requires a high degree of suspicion in children presenting with mass abdomen.
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