Hematological features in children with systemic lupus erythematosus: are they more common than appreciated?

PubMe

Chronic Myeloid Leukemia Presenting with Visual and Auditory Impairment in an Adolescent: An Insight to Management Strategies

A 15-year-old girl presented with progressive deterioration in vision and hearing over 1 week. A huge spleen was palpated below the left costal margin laying down to inguinal region. Blood count showed hyperleukocytosis with a white blood cell count of 455 × 109/l. Peripheral smear yielded myeloid precursor cells with basophilia. Bone marrow aspiration revealed a blast count of 5% morphologically and 4% by flow cytometry. Fundoscopic examination revealed bilateral retinal exudates, edema and hemorhages. Partial sensorioneural hearing loss was also detected on the right ear. The diagnosis of chronic myeloid leukemia was confirmed by positive t(9;22) by RT-PCR. After commencing on hydroxyurea and intrathecal methotrexate-prednisolone, progressive improvement in hearing and vision was obtained. In our brief report, we aimed to emphasize rare presentation with visual and hearing impairment of chronic myeloid leukemia during childhood, especially in “chronic phase”

Molecular Diagnosis Of Shwachman-Diamond Syndrome Presenting With Pancytopenia At An Early Age: The First Report From Turkey

A three-month-old boy presented with growth failure, skeletal abnormalities, otitis media and pancytopenia. Exocrine pancreatic insufficiency was confirmed by low levels of fecal elastase. He was diagnosed as Shwachman-Diamond syndrome by clinical and laboratory findings. The diagnosis was confirmed by sequence analysis for SBDS gene on chromosome seven revealing compound heterozygous mutation, which are c.258+2T-C and c.183-184TA-CT. Matched unrelated donor screening for hematopoietic stem cell transplantation was initiated. Unfortunately, he died of respiratory difficulty at 5 months of age. Our case is the youngest patient whose presumptive Shwachman-Diamond syndrome diagnosis was confirmed by molecular analysis.Wo

Coexisting or underlying risk factors of hepatic veno-occlusive disease in pediatric hematopoietic stem cell transplant recipients receiving prophylaxis.

Wo

Early Transient Neonatal Cyanosis Related to Interatrial Right-to-Left Shunting at an Altitude of 1890 Meters: A Report of Five Cases

Background: We report five term neonates born at an altitude of 1890 meters with transient early neonatal cyanosis due to right-to-left shunting at atrial level through patent foramen ovale. Case Presentation: The five neonates with no clinical sign or symptom other than marked cyanosis were examined in two neonatal units of Erzurum city. Hematologic and radiologic examinations were normal. Partial oxygen pressure (PO2) in the arterial blood samples was lower than 45 mmHg in all of the patients, and did not increase more than 15 mmHg in any of the patients after inhalation of 100% oxygen. Echocardiography revealed normal intracardiac structure. The right-to-left interatrial shunt at diastole was detected through a patent foramen ovale in all of these infants. By only observation with no treatment, diastolic right-to-left shunt disappeared in 40.15±9.52 hours. Oxygen saturation was increased from 69.80±9.55 percent to 90.40±8.80 percent. The patients were discharged from the hospital at 5.6±0.4 days of life. Follow up for 6 months revealed no clinical problem in any of the cases. Conclusion: Transient cyanosis can be seen in the very early neonatal period because of interatrial right-to-left shunting in some healthy term neonates born at an altitude of 1890 meters. Decreased right atrial compliance due to relative hypoxia at that altitude can be speculated to be the causative mechanism

THE ASSOCIATION OF GVHD WITH HLA DR ALLELES, IFN-GAMMA, TGF-BETA, AND MBL2 GENE POLYMORPHISM

WOS: 000464517600242

Acute sinovenous thrombosis with multiple etiologic factors

In childhood; the incidence of intracranial thrombosis is 2.5-2.7/100000. They may present with different symptoms according to the location and size of the occluded vessel and age of the patient. In most cases; cranial imaging is necessary to confirm the lesion. Pediatric cerebrovascular thrombosis may be related to more than one etiologic factor so detailed evaluation is mandatory. A thirteen-year-old boy presented to our emergency room with a complaint of seizure. His cranial imaging showed thrombosis in left transverse-sigmoid sinuse. His father had been diagnosed to have deep venous thrombosis. In our case and in his father; protein S levels were found as 11.9% and 10.6% (N: % 80-120) respectively and they were started on anticoagulation therapy. Our patient's homocsyteine level was 15.5 mmol/lt N: 0-12). His methylene-tetrahydrofolate reductase thermolabile enzyme (C677T) mutation was found homozygous. He was also started on oral folic acid therapy. A year after his first presentation, his protein S level was 16% and homocysteine level was 7.5 mmol/ lt. His last cranial imaging showed no progresssion in the prior lesion and no new lesion

Recurrent pediatric thrombosis: the effect of underlying and/or coexisting factors.

Wo