Clinical profile and short-term outcome of pediatric hyperleukocytic acute leukemia from a developing country

This study was conducted to determine the frequency, clinical profile, and short-term outcome of children with hyperleukocytosis at two pediatric oncology centers in Karachi. Of a total 1,045 patients, 13.97% [n=146] patients had hyperleukocytosis. Majority [61.7%, n=90] were under 10 years of age and 76% [n=146] were male. The symptom duration before diagnosis was more than 30 days in 49.3% [n=72]. The median WBC count was 181 x109/L [IQR=130.45- 298.3] and extreme hyperleukocytosis [>200 x109/L] was observed in 44.5% [n=65] patients. Majority [94.5%, n=138] of patients were diagnosed with acute lymphoblastic leukemia. One or more complications developed in 78% [n=114] of cases. Clinical and laboratory tumor lysis syndrome [TLS] was observed in 17.1% [n=25] and 39% [n=57] patients, respectively. Pulmonary and neurological complications related to leukostasis were noted in 9.5% [n=14] and 27.3% [n=40] of cases, respectively. Infectious complications occurred in 23.2% [n=34] patients. The case-specific mortality was 20.5% [n=30]. No mortality was related to early complications of hyperleukocytosis

Acute lymphoblastic leukemia in a child with fanconi's anaemia

Fanconi anaemia [FA] is an autosomal recessive inherited disorder with progressive bone marrow failure, associated congenital malformation and solid and haematological malignancies. Acute myeloid leukemia is the commonest haematological malignancy followed by myelodysplastic syndrome in children with FA. FA transformed into acute lymphoblastic leukemia [ALL] is a rare phenomenon and one of the rarest haematological malignancies associated with this disorder. We are reporting a 13 years old girl with FA and positive chromosomal breakage. She required regular blood product transfusion. She was planned for haematopoietic stem cell transplantation [HSCT] but the sibling-matched donor was found to have chromosomal breaks as well. Later on, her peripheral smear showed blast cell. Bone marrow showed pre-B ALL. She was started on chemotherapy but died shortly due to complications of the treatment. For this rare condition conservative management is indeed essential, however, safe and appropriate chemotherapy regimen is needed

Aplastic anemia: clinicohaematological features, treatment and outcome analysis

To determine the clinicohaematological features, treatment and outcome of children diagnosed with aplastic anemia at a single institution. Observational study. The Aga Khan University Hospital, Karachi, from January 1999 till December 2008. Medical records of children aged less than 15 years of age diagnosed with aplastic anemia were reviewed. Clinicohaematological features, treatment and its response to therapy and outcome were recorded. Results were described in percentages. Ninety patients were diagnosed to have aplastic anemia [AA]; 65 were male during the study period. Age ranged from 1 to 15 years. Fever in 65 patients [72.2%], pallor in 53 [58.8%], skin bleeding in 49 [54.4%] and epistaxis in 31[34.4%] were the most common and frequent presenting features. Congenital [Fanconi's] anemia was found in 15 [16.6%] and acquired idiopathic in 75 [83.4%] of patients. Very severe aplastic anemia [VSAA] was seen in 29 [32.2%], 26 [28.9%] had severe AA and 17 [18.9%] had moderate AA. Eight patients [8.9%] underwent haematopoietic stem cell transplantation [HSCT], 12 [13.3%] received immunosuppressive therapy [IST] and 70 patients [77.7%] received other and supportive therapy. Five [62.5%] patients showed complete response to HSCT and 3 [37.5%] failed to engraft. IST showed complete response in 3 [25%], partial response in 5 [41.6%] and no response in 4 [33.3%]. Twenty two patients [24.4%] expired either due to infection in 16 [72.7%, fungal in 6, bacterial in 10] and intracranial haemorrhage in 6 [27.3%] cases. Majority of cases with AA were acquired and idiopathic in etiology. VSAA and SAA were frequent. Response to HSCT and IST was sub-optimal

Successful management of invasive aspergillosis with voriconazole and amphoteracin B therapy in a patient with Acute Mycloid Leukemia [AML-M2]

An eleven year old boy presented with one month's history of fever and weight loss. He was diagnosed with Acute Mycloid Leukemia [AML-M2]. During treatment he developed recurrent infections with neutropenia requiring prolonged antibiotics and subsequently developed invasive aspergillosis. He was treated with amphotericin B and Voriconazole. This case shows the efficacy and safety of combined antifungal therapy, including voriconazole, for invasive aspergillosis complicating AML

Factor XIII deficiency in children-clinical presentation and outcome

To determine the demographic features and clinical outcome of children with Factor XIII deficiency. Observational case series. The Aga Khan University Hospital, Karachi, from January 1996 to December 2006. Records of all hospitalized pediatric patients with discharge diagnosis of FXIII D, on the basis of factor XIII assay 5 mol/L urea test were retrospectively reviewed and abstracted on a pre-specified proforma. Demographic features, coagulation profile, family history and outcomes were noted. A total of 10 charts were reviewed. There were 5 boys and 5 girls. Almost all the children [9/10] were less than 5 years of age, out of whom 5 [50%] were infants, and 3 were neonates. Bruises and prolonged bleeding after trauma was the major presenting complaints in 80%, followed by prolonged bleeding from the umbilical stump in 2 patients. Nine patients had past history of prolonged umbilical bleeding. Two patients had history of FXIII D in siblings, while 2 had history of prolonged bleeding in other family members [cause unknown]. Consanguinity was present in 80% of the families. Initial coagulation screen were normal in all patients. Two patients had intracranial hemorrhage, proved on neuro-imaging, were managed with plasma infusions and required craniotomy. The rest were managed conservatively with plasma transfusions. All were discharged alive in good clinical condition. Almost all were followed regularly in clinic with monthly cryoprecipitate transfusions. Although factor XIII deficiency is a rare genetic disorder in children with history of brui sing, prolonged umbilical bleeding, family history of bleeding and consanguinity with normal initial coagulation screen [PT, APTT and platelets], FXIII D should be ruled out

Imiglucerase treatment in gaucher's disease

Gaucher's disease is an inherited lysosomal storage disorder with a deficiency of the enzyme glucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletal destruction and organ dysfunction due to the accumulation of glucocerbrosides. There are several types of Gaucher's disease with varying prognosis and clinical progression of disease. We describe two cases followed at the Aga Khan University, Karachi, Pakistan, with different forms of the disorder. The enzyme Imiglucerase [Cerezyme, Genzyme] has been used to treat Type 1 Gaucher disease while the neuronopathic type has been resistant to therapy. We used Imiglucerase 60 micro g/kg every 2 weeks in one patient with Type 1 Gaucher disease and followed hepatic, splenic volumes and blood counts. Treatment with Imiglucerase resulted in a decrease in splenic size, reduced requirements for transfusions and an improvement in cardiopulmonary symptoms