Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia.

We report herein a child with transfusion-dependent chronic anemia, the cause of which was difficult to establish because of his transfusion dependency. The clinical and laboratory features suggested a chronic nonspherocytic hemolytic anemia (CNSHA) with bone marrow features suggestive of congenital dyserythropoietic anemia (CDA). DNA studies, however, revealed the underlying condition to be due to a novel mutation in the PKLR gene responsible for pyruvate kinase deficiency (PKD). Molecular investigations by a targeted next-generation sequencing (t-NGS) using a custom panel of 71 genes involved in the red blood cell (RBC) disorders revealed that the patient was homozygous for a novel missense mutation c.898G>C, p.Ala300Pro, whereas both his parents were heterozygous for the same mutation.

KMT2A-MLLT3 AML Masquerading as JMML may Disguise Fatal Leukemia.

We present a mortality case showcasing t(9;11)-positive acute myeloid leukemia/juvenile myelomonocytic leukemia (AML/JMML) overlap to shed light on this lethal molecular subtype of AML. In this case, the flawed assumption that JMML was to blame impeded the prompt undertaking of appropriate treatment for AML in our 14-month-old patient. This article aims to scrutinize the catastrophic sequel of such an overlap in leukemia and refutes the contemporary diagnostic methods.

Vascular stenosis in a child with visual pathway glioma treated with bevacizumab: a case report and review of literature.

BACKGROUND: Bevacizumab (BVZ) is a vascular endothelial growth factor inhibitor that has been widely accepted since its introduction into the cancer pharmacopoeia. Anecdotal reports suggested improvements in vision in children with visual pathway glioma. CASE PRESENTATION: We report a boy with visual pathway glioma whose vision had deteriorated significantly on vincristine and carboplatin, to the point that he was registered blind. Following bevacizumab therapy, there was a dramatic improvement in vision with reduction in tumour volume. However, following 20 doses of BVZ given over 19 months, he developed a significant cerebrovascular stenosis. CONCLUSION: The BVZ-induced cerebrovascular diseases in children are extremely rare but potentially serious. Importantly, stenosis has not been previously described in literature.

Human Parvovirus B19 in Children with Sickle Cell Disease; Poking the Spleen.

Parvovirus is a known culprit of transient red cell aplasia (TRCA) in children with sickle cell disease (SCD). Few reports have previously described the association between the virus and acute splenic sequestration crisis (ASSC) in the same patient. Here, we are shedding light on such a potentially serious combination by reporting two cases of siblings with SCD complicated with concurrent ASSC and TRCA and presenting a review of the relevant literature.

MRI capture of intermittent ventriculomegaly in a patient with ventriculo-peritoneal shunt.

Intermittent change in ventricular size in patients with ventriculo-peritoneal shunts is a recognised complication but definitive imaging evidence is rare. We report a 3 years old boy with a medullary astrocytoma and ventriculo-peritoneal shunt placement who demonstrated intermittent ventriculomegaly during a single MRI scan.

Single Breath-Hold Physiotherapy Technique: Effective tool for T2* magnetic resonance imaging in young patients with thalassaemia major.

Magnetic resonance imaging using T2* (MRI T2*) is a highly sensitive and non-invasive technique for the detection of tissue iron load. Although the single breath-hold multi-echo T2* technique has been available at the Sultan Qaboos University Hospital (SQUH), Muscat, Oman, since 2006, it could not be performed on younger patients due to their inability to hold their breath after expiration. This study was carried out between May 2007 and May 2015 and assessed 50 SQUH thalassaemic patients aged 7-17 years old. Seven of these patients underwent baseline and one-year follow-up MRI T2* scans before receiving physiotherapy training. Subsequently, all patients were trained by a physiotherapist to hold their breath for approximately 15-20 seconds at the end of expiration before undergoing baseline and one-year follow-up MRI T2* scans. Failure rates for the pre- and post-training groups were 6.0% and 42.8%, respectively. These results indicate that the training of thalassaemic patients in breath-hold techniques is beneficial and increases rates of compliance for MRI T2* scans.

Echocardiography in PICU: when the heart sees what is invisible to the eye / Ecocardiografia na UTIP: quando o coração vê o que é invisível aos olhos

ABSTRACT OBJECTIVE: Echocardiography has become an indispensable bedside diagnostic tool in the realm of pediatric intensive care units (PICU). It has proven to be an influential factor in the formula of clinical decision-making. This study aimed to delineate the impact of echocardiography on the management of critically ill pediatric patients in the PICU at Sultan Qaboos University Hospital, Oman. METHOD: This was a retrospective cohort study conducted in a five-bed PICU. Patients admitted to the PICU from January of 2011 to December of 2012 were reviewed. Those who have undergone bedside echocardiography during their ICU stay were recruited. Electronic patient record was used as data source. RESULTS: Over a-24-month period, 424 patients were admitted in this PICU. One hundred and one clinically indicated transthoracic echocardiograms were performed. 81.8% of these presented new findings (n = 82) that significantly impacted the clinical decision of patient management, namely, alteration in drug therapy and procedure, whereas no difference in the management was yielded in the remaining 17.8% of the studied cases. CONCLUSIONS: Echocardiography had a significant impact on the management of PICU patients. Such salutary effect was consequently reflected on the outcome. Pediatric intensivists are encouraged to acquire such bedside skill.

RESUMO OBJETIVO: A ecocardiografia se tornou uma ferramenta de diagnóstico relevante, indispensável no âmbito das unidades de terapia intensiva pediátrica (UTIP). Ela se tornou um fator influente na tomada de decisões clínicas. O objetivo deste estudo foi delinear o impacto da ecocardiografia sobre o manejo de pacientes pediátricos gravemente doentes na UTIP do Hospital Universitário Sultan Qaboos, em Omã. MÉTODO: Este é um estudo de coorte retrospectivo feito em uma UTIP de cinco leitos. Foram analisados pacientes internados na UTIP entre janeiro de 2011 e dezembro de 2012. Foram recrutados os pacientes que passaram por ecocardiografia durante sua internação na UTI. O registro eletrônico dos pacientes foi usado como fonte de dados. RESULTADOS: Em 24 meses, 424 pacientes foram internados em nossa UTIP, 101 pacientes foram encaminhados para ecocardiografias transtorácicas, 81,8% deles tiveram novos achados (n = 82) que afetaram significativamente a decisão clínica, como a terapia medicamentosa e os procedimentos, ao passo que não houve diferença no manejo nos outros 17,8% dos casos estudados. CONCLUSÕES: A ecocardiografia teve um impacto significativo sobre o manejo de pacientes da UTIP. Esse efeito refletiu-se nos resultados. Os intensivistas pediátricos devem ser incentivados a adquirir essa habilidade relevante.

Echocardiography in PICU: when the heart sees what is invisible to the eye.

OBJECTIVE: Echocardiography has become an indispensable bedside diagnostic tool in the realm of pediatric intensive care units (PICU). It has proven to be an influential factor in the formula of clinical decision-making. This study aimed to delineate the impact of echocardiography on the management of critically ill pediatric patients in the PICU at Sultan Qaboos University Hospital, Oman. METHOD: This was a retrospective cohort study conducted in a five-bed PICU. Patients admitted to the PICU from January of 2011 to December of 2012 were reviewed. Those who have undergone bedside echocardiography during their ICU stay were recruited. Electronic patient record was used as data source. RESULTS: Over a-24-month period, 424 patients were admitted in this PICU. One hundred and one clinically indicated transthoracic echocardiograms were performed. 81.8% of these presented new findings (n=82) that significantly impacted the clinical decision of patient management, namely, alteration in drug therapy and procedure, whereas no difference in the management was yielded in the remaining 17.8% of the studied cases. CONCLUSIONS: Echocardiography had a significant impact on the management of PICU patients. Such salutary effect was consequently reflected on the outcome. Pediatric intensivists are encouraged to acquire such bedside skill.

Hepatoblastomas in Oman: Unveiling success.

OBJECTIVES: Primary malignant liver tumours account for more than 1% of all paediatric malignancies, with the most common form being hepatoblastomas (HB). Such malignancies among Arab populations have rarely been addressed in the literature. Using data from Oman's sole national referral centre for childhood solid malignancies, this study aimed to present the nationwide Omani experience with HB over the past 21 years. METHODS: This retrospective study reviewed the medical records of all children with HB who were managed in the Royal Hospital, Muscat, Oman, between January 1991 and April 2012. Clinical, radiological and laboratory characteristics were examined as well as treatments and outcomes. RESULTS: During the study period, 15 patients with HB were treated. Of these, 10 have survived to date. Nine of the survivors were no longer receiving treatment and one patient still had the disease but was in a stable condition. Of the remaining five patients, three did not survive and two were lost to follow-up. The survival rate among patients who completed therapy was 91%. CONCLUSION: HB has an excellent prognosis in Oman. The main obstacle to improving outcomes among Omani patients is non-compliance with therapy.

Hypertrophic Obstructive Cardiomyopathy in An Infant With Hemophagocytic Lymphohistiocytosis; Answer to a Riddle.

Familial hemophagocytic lymphohistiocytosis (FHLH) is a hereditary hyperinflammatory condition with T-cell and macrophage activation. Treatment consists of immunosuppressive therapy plus bone marrow transplantation. Cardiac manifestations of FHLH were scarcely mentioned in the literature with conflicting pathophysiological explanations. We report a case of hypertrophic obstructive cardiomyopathy associated with FHLH. Guided by such a case, a clear vision regarding the real cause is thought to be obtained in the cloudy landscape of pathophysiology.

Thiamine responsive megaloblastic anemia: the puzzling phenotype.

BACKGROUND: Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness. Other clinical findings have been described in few cases. The SLC19A2 gene on chromosome 1q 23.3 is implicated in all cases with TRMA. Our aim is to discuss the clinical manifestations of all Omani children diagnosed with TRMA and determine genotype-phenotype relationship. PROCEDURE: Clinical and laboratory data of all patients diagnosed in Oman were retrospectively collected. Mutation analysis of affected families was conducted using two Microsatellite markers. Genotyping was performed with fluorescent-labeled PCR primers. To define the deletion breakpoint region, PCR reactions were carried out using different primer pairs located at the introns 3 and 3'-untranslated region with Expand Long Template PCR kit. RESULTS: A total of six children have been diagnosed with this syndrome. They were five females and one male. They all presented with sensorineural deafness at birth while the age of anemia presentation ranged between 6 weeks to 19 months. They all belong to same family with complex interfamilial marriages and presented with the typical triad. Of interest is the very rare presentation of one patient with Uhl cardiac anomaly (total absence of right ventricular myocardium with apposition of endocardium and pericardium) that has never been described before in patients with TRMA. All patients have a novel large deletion of 5,224 bp involving exons 4, 5, and 6 of SLC19A2. CONCLUSIONS: TRMA is a disease of expanding phenotypic spectrum with poor genotype-phenotype correlation.

Optimizing Hydroxyurea use in children with sickle cell disease: low dose regimen is effective.

BACKGROUND AND OBJECTIVES: Hydroxyurea (HU) is the standard treatment for severely affected children with sickle cell disease (SCD). Starting dose is 15-20 mg/kg/day that can be escalated up to 35 mg/kg/day. Ethnic neutropenia is common in this area of the world that requires judicious usage of myelosuppressive drugs. Aim was to assess the efficacy of a lower initial dose of HU and cautious dose escalation regimen in patients with SCD. METHODS: We assessed 161 patients with SCD on HU, at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, retrospectively from 1998 to 2008 and prospectively from 2009 to 2011. Starting dose of HU was 10-12 mg/kg/day, adjusted based on response or side effects. Patients were divided into two groups according to the dose of HU (10-15.9 mg/kg/day and 16-26 mg/kg/day). RESULTS: Nineteen patients were excluded for various reasons. Forty-four children were in the low-dose group and 98 were in the high-dose group. There was significant reduction in the annual number of admissions due to vaso-occlusive crisis in both groups (P < 0.001). However, the difference between the two groups was statistically insignificant (P > 0.05). In addition, there was an observed clinical improvement regarding the acute chest syndrome (ACS). Both groups had comparable significant improvements in their laboratory markers [e.g., hemoglobin (Hb), Mean Corpuscular Volume (MCV), and absolute neutrophil count (ANC)]. All 142 patients tolerated the treatment well. Reversible toxicities occurred in both low- and high-dose groups. CONCLUSION: In SCD patients, low-dose regimen of HU is a feasible option that ensured safety and yet did not affect efficacy.

Brain is not always the last fortress; osteosarcoma with large brain metastasis.

Osteosarcomas are the most common malignant primary bone tumors in children and adolescents. Brain metastases of osteosarcoma are very rare and carry a dismal prognosis. We report a case of chondroblastic osteosarcoma of right humerus presented with right frontal lobe metastasis in a 10-year-old girl with small pulmonary lesions.

Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving.

We report an Omani family in whom the propositus had a rare coexistence of sickle cell disease and severe congenital neutropenia associated with a mutation in ELANE. In contrast to his siblings with sickle cell disease, the severity of HbSS-associated complications such as painful crises and acute chest syndrome was significantly reduced. His course of the disease had markedly worsened after initiating G-CSF therapy. These clinical observations suggest that neutropenia may ameliorate inflammatory responses and thus display a modulating factor with respect to the clinical course of sickle cell disease.