An unusual presentation of pediatric acute lymphoblastic leukemia

Acute lymphoblastic leukemia (ALL) is one of the most common hematological malignancies occurring in children. We report an interesting case of ALL with an unusual presentation. This 3 year old boy came with a 6 month history of multiple pathological fractures, generalized osteopenia and vertebral compression. All the possible causesresponsible for this condition were ruled out. His complete blood count which was normal initially evolved into cytopenias. His physical examination revealed generalized lymphadenopathy and hepatosplenomegaly. The complete blood count showed pancytopenia with blasts in peripheral smear. Bone marrow aspirate was suggestive of B ALL. Pediatric ALL patients usually present with symptoms due to cytopenias, fever and bone pains. Although asymptomatic skeletal involvement may be seen in 40–60% of patients at presentation, pathological fractures and vertebral compressions are very rare. Therefore a high index of suspicion is needed to diagnose such cases. Moreover, these patients are usually associated with good prognostic features.     

Acute abdomen due to endometriosis as a diagnostic and therapeutic challenge in the treatment of acute myelocytic leukemia

 Acute abdomial pain is a frequent diagnostic and therapeutic challenge in hematologic patients. We report on the very rare case of organ endometriosis with acute abdominal symptoms in a 43-year-old female patient with AML-M5, starting 4 days after induction chemotherapy with idarubicin, ara-C, and etoposide. The patient presented with an acute abdomen with clinical findings of acute cholecystitis, subileus, and local pain in the right upper abdomen accompanied by severe diarrhea. Probably due to impaired intestinal resorption, menstrual bleeding occurred despite regular administration of lynestrenol. Ultrasound examination of the abdomen disclosed a tumor with poor echoes in the pouch of Douglas, a subcapsular splenic hemorrhage, and a thickened gallbladder wall with surrounding edema. A cystic adnex tumor was confirmed by endovaginal ultrasound. Based on history and the findings on ultrasound, an endometriosis was diagnosed, and the LHRH agonist (nafarelin) was administered nasally in combination with lynestrenol. Following this medication the abdominal pain ceased, supporting the diagnosis of endometriosis. Nasal administration of an LHRH agonist in the following cycles of chemotherapy was effective in preventing further abdominal discomfort and vaginal bleeding. LHRH agonists should be given to patients with known endometriosis before starting myeloablative chemotherapy to prevent painful hemorrhage from endometriosis. Received: 20 June 1996 / Accepted: 11 October 1996     

Infection and pediatric acute lymphoblastic leukemia

In this review, we provide an overview of recent findings from the Northern California Childhood Leukemia Study (NCCLS) on factors related to the immune system including child's vaccination history and measures of child's exposure to infectious agents, namely daycare attendance, infection during infancy, and parental social contact in the work place. We also provide suggestions for the next stages of studies.     

Breast lump as an initial manifestation in acute lymphoblastic leukemia: an unusual presentation. A case report

Breast lump as a presenting manifestation of acute lymphoblastic lymphoma (ALL) leukemia is extremely rare. We report a case of a young female who presented with a breast lump clinically suggestive of fibroadenoma. On fine needle aspiration cytology, it was diagnosed as lymphoid malignancy, later confirmed as ALL using hematological investigations.     

A rare cause of acute abdomen: splenic infarction.

Splenic infarction is a rare disorder. We have treated 4 patients during the last year. Abdominal pain in the left upper quadrant was the common complaint. Other complaints were fever, nausea and vomiting. Computed tomography showed infarcted areas in the spleen in all of the patients. Splenectomy was applied to three of the patients with recurring symptoms. The other patient had the first episode treated medically. Pulmonary embolism in one and surgical wound infection occurred in another patient during postoperative follow-up for nine (range: 4-14) months.     

Spontaneous splenic rupture as the initial manifestation of acute lymphoblastic leukaemia: Immunophenotype and cytogenetics

Summary Spontaneous splenic rupture is a rare, though life-threatening complication of some hematological malignancies and is even more infrequent as the initial symptom of acute lymphoblastic leukemia. We describe the fourth case, to our knowledge, of acute lymphoblastic leukemia presenting as splenic rupture, and for the first time the immunophenotype and cytogenetic pattern observed.     

Acute myocarditis and ventricular fibrillation as initial presentation of pediatric systemic lupus erythematosus

Acute myocarditis and ventricular arrhythmia are rarely seen as the initial presentation of systemic lupus erythematosus (SLE) in children. We reported the case of a 12-year-old girl with congestive heart failure, acute myocarditis and pericardial effusion as a primary manifestation of SLE. Sudden cardiovascular collapse due to ventricular fibrillation (VF), ventricular tachycardia (VT) and cardiac tamponade occurred. After resuscitation and pericardiocentesis, frequent VF/VT refractory to anti-arrhythmic therapy was supported by venoarterial extracorporeal membrane oxygenation. Early diagnosis and a combination treatment for heart failure, arrhythmias and immunosuppression may result in a favorable outcome.     

Intracardiac thrombosis and acute myocardial infarction as initial presentation of antiphospholipid syndrome

Antiphospholipid syndrome is a disorder characterized by arterial or venous thrombosis, high plasma levels of antiphospholipid antibodies, recurrent fetal loss (in women) and thrombocytopenia. The authors present a case of a 28-year-old man with no significant medical history who presented with ST elevation myocardial infarction (MI) and underwent percutaneous intervention to left anterior descending artery. He was also found to have intracardiac thrombosis, thrombocytopenia, elevated activated partial thromboplastin time and persistently elevated anticardiolipin and beta-2 glycoprotein antibodies. The authors performed a literature search regarding the frequency of MI and intracardiac thrombosis as the primary presentation of antiphospholipid syndrome and the relationship of antiphospholipid antibodies with MI.     

Genomic profiling of adult acute lymphoblastic leukemia by single nucleotide polymorphism oligonucleotide microarray and comparison to pediatric acute lymphoblastic leukemia

Background

Differences in survival have been reported between pediatric and adult acute lymphoblastic leukemia. The inferior prognosis in adult acute lymphoblastic leukemia is not fully understood but could be attributed, in part, to differences in genomic alterations found in adult as compared to in pediatric acute lymphoblastic leukemia.

Design and Methods

We compared two different sets of high-density single nucleotide polymorphism array genotyping data from 75 new diagnostic adult and 399 previously published diagnostic pediatric acute lymphoblastic leukemia samples. The patients’ samples were randomly acquired from among Caucasian and Asian populations and hybridized to either Affymetrix 50K or 250K single nucleotide polymorphism arrays. The array data were investigated with Copy Number Analysis for GeneChips (CNAG) software for allele-specific copy number analysis.

Results

The high density single nucleotide polymorphism array analysis of 75 samples of adult acute lymphoblastic leukemia led to the identification of numerous cryptic and submicroscopic genomic lesions with a mean of 7.6 genomic alterations per sample. The patterns and frequencies of lesions detected in the adult samples largely reproduced known genomic hallmarks detected in previous single nucleotide polymorphism-array studies of pediatric acute lymphoblastic leukemia, such as common deletions of 3p14.2 (FHIT), 5q33.3 (EBF), 6q, 9p21.3 (CDKN2A/B), 9p13.2 (PAX5), 13q14.2 (RB1) and 17q11.2 (NF1). Some differences between adult and pediatric acute lymphoblastic leukemia were identified when the pediatric data set was partitioned into hyperdiploid and non-hyperdiploid cases and then compared to the nearly exclusively non-hyperdiploid adult samples. In this analysis, adult samples had a higher rate of deletions of chromosome 17p (TP53) and duplication of 17q.

Conclusions

Our analysis of adult acute lymphoblastic leukemia cases led to the identification of new potential target lesions relevant for the pathogenesis of acute lymphoblastic leukemia. However, no unequivocal pattern of submicroscopic genomic alterations was found to separate adult acute lymphoblastic leukemia from pediatric acute lymphoblastic leukemia. Therefore, apart from different therapy regimen, differences of prognosis between adult and pediatric acute lymphoblastic leukemia are probably based on genetic subgroups according to cytogenetically detectable lesions but not focal genomic copy number microlesions.     

Acute abdomen as the first presentation of pseudomembranous colitis.

Acute abdomen was the presenting manifestation of pseudomembranous colitis in six men who had previously been treated with antibiotics and presented with abdominal distention, pain, fever, and leukocytosis with absent or mild diarrhea. Plain abdominal radiographs revealed megacolon in two, combined small and large bowel dilation in three, with one of them showing volvuluslike pattern, and isolated small bowel ileus in one. Emergency colonoscopy was performed successfully in all patients and revealed pseudomembranes in five and nonspecific colitis in one. All patients had positive latex test results for Clostridium difficile, and two tested positive for cytotoxicity. All patients were treated with IV metronidazole, resulting in resolution of symptoms and abdominal findings. In addition, two patients underwent colonoscopic decompression with improvement. Endoscopically, complete resolution of the pseudomembranes occurred at 4 weeks in all cases. No patient had a recurrence. It is concluded that (a) pseudomembranous colitis may present as abdominal distention mimicking small bowel ileus. Ogilvie's syndrome, volvulus, or ischemia; (b) in such cases, emergency colonoscopy is safe and useful for diagnosis and therapeutic decompression and may obviate the need for surgery; and (c) treatment with IV metronidazole is effective. Colitis due to C. difficile should be considered in the differential diagnosis of acute abdomen in patients previously treated with antibiotics.     

Acute lower limb ischemia as the initial symptom of acute myeloid leukemia

Although coagulatory system disorders are well recognized in patients with acute leukemia, these usually present with either hemorrhagic complications or thrombosis of small vessels. Large vessel thrombosis is a very rare clinical presentation. We present a patient with previously undiagnosed acute myeloid leukemia (M5), who was referred to our hospital with symptoms of acute ischemia of his right lower limb. Occlusion of the right external iliac artery due to a combination of leucostasis and coagulation disorders was noted and successfully treated with urgent leukapheresis, immediate chemotherapy and surgical thromboembolectomy.     

Acute abdomen as an atypical presentation of meningococcal septicaemia

The clinical manifestations and course of meningococcal disease have been well described, but atypical presentations may, if unrecognized, lead to a delay in treatment. We describe here an unusual case of this disease in a 21-y-old woman who presented with an acute rigid abdomen, clinical and laboratory features of sepsis, shock and early DIC with no indication of meningococcal infection. She developed a rapidly spreading purpuric rash, conjunctival haemorrhages, hypotension and tachycardia and a low urine output. Laboratory investigations showed a low platelet count, low haemoglobin and normal WBC. A presumptive diagnosis of meningococcal septicaemia was made and recovery followed treatment with cefotaxime, fluids and inotropes. A fully sensitive Neisseria meningitis Group C, type 2a, subtype NT was isolated from blood cultures, but not from CSF obtained after antibiotic treatment.     

Acute abdomen due to Brucella melitensis

A case of acute abdomen caused by a Brucella melitensis is reported. The patient presented with biliary involvement in the form of acute acalculous cholecystitis and developed acute appendicitis that resulted in his surgical treatment.