BCL10 loss-of-function novel mutation leading to atypical severe combined immunodeficiency.

BACKGROUND: Severe combined immunodeficiency (SCID) is characterized by severe, early-onset infection in infants. B-cell lymphoma/leukemia (BCL) 10 defects causing SCID have been reported previously in two patients. MATERIAL & METHODS: A seven-month-old female infant was admitted with bilateral pneumonia requiring ventilatory support. She had a history of recurrent infections starting from four months of age. The patient was investigated for primary immunodeficiency. RESULTS: Immunological investigations revealed hypogammaglobulinemia with normal CD4 and CD8 lymphocyte counts, while a lymphocyte proliferation assay showed absent response to phytohemagglutinin stimulation, thereby establishing the diagnosis of an atypical form of SCID. Genetic testing revealed a homozygous mutation in the BCL10 gene, with both parents demonstrating a heterozygous state (NM_003921.5:c.271A > C:p.[Thr91Pro]). The patient died before bone marrow transplantation due to severe disseminated adenovirus disease. CONCLUSION: We report the first patient from the Middle East with a novel homozygous mutation in the BCL10 gene causing SCID.

Primary Immature Renal Teratoma in a Neonate.

Teratomas are neoplasms that commonly arise from the gonads. It is rare that they originate in the kidney. Immature intrarenal teratomas are exceptionally rare. To our knowledge, the current case will be the fifth immature intrarenal teratoma reported in the literature, in addition to being the first such case reported in a neonate.

Use of Noninvasive Ventilation and High-Flow Nasal Cannulae Therapy for Infants and Children with Acute Respiratory Distress Outside of Paediatric Intensive Care: A review article.

Noninvasive ventilation (NIV) and high-flow nasal cannulae therapy (HFNCT) are first-line methods of treatment for children presenting with acute respiratory distress, with paediatric intensive care units (PICUs) providing an ideal environment for subsequent treatment monitoring. However, the availability of step-down units, where NIV and HFNCT can be safely utilised, has reduced the need for such patients to be admitted to PICUs, thereby leading to the better overall utilisation of critical care resources. In addition, NIV and HFNCT can also be used during transport instead of invasive ventilation, thus avoiding the complications associated with the latter approach. This review article examines the safety and applicability of these respiratory support approaches outside of paediatric intensive care as well as various factors associated with treatment success or failure.

Noninvasive Ventilation and High-Flow Nasal Cannulae Therapy for Children with Acute Respiratory Failure: An overview.

Noninvasive ventilation (NIV) refers to the use of techniques to deliver artificial respiration to the lungs without the need for endotracheal intubation. As NIV has proven beneficial in comparison to invasive mechanical ventilation, it has become the optimal modality for initial respiratory support among children in respiratory distress. High-flow nasal cannulae (HFNC) therapy is a relatively new NIV modality and is used for similar indications. This review discusses the usefulness and applications of conventional NIV in comparison to HFNC.

Sengstaken-Blakemore Tube: an extra mile.

Upper gastrointestinal bleeding (UGIB) in children has multiple etiologies but fortunately is not encountered commonly by pediatricians. Aorto-esophageal fistula (AEF) in children is a rare cause of UGIB and it is mainly secondary to accidental ingestion of foreign bodies, particularly disc batteries, or after cardiothoracic surgery. In this study, we report a case of a 3-year-old child who developed de novo AEF with no prior injury to the esophagus. The child presented with massive UGIB leading to hypovolemic shock, acute kidney injury, and cardiac arrest. The torrential bleed was controlled using a Sengstaken-Blakemore Tube (SBT), which allowed urgent chest CT angiography as well as subsequent thoracotomy and repair of the fistula Unfortunately, the child succumbed to repeated cardiac arrests secondary to the renal injury and severe acidosis. This case highlights the need for the early recognition of massive UGIB in children and the requirement to make appropriately sized SBTs available in all pediatric gastroenterology units.