Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report.

Chediak-Higashi syndrome (CHS) is a congenital immunodeficiency disorder characterized by recurrent bacterial infections, oculocutaneous albinism, and abnormal intracellular protein transport. The incidence of CHS is rare, with approximately 500 cases reported so far. One of the key immunological features of CHS is neutropenia. The management of CHS includes supportive treatment, chemotherapy, methylprednisolone, IL-2 administration, and hematopoietic stem cell transplantation (HSCT). However, neutropenia can persist even after these treatments. This case report presents the successful management of severe neutropenia in an 8-year-old girl diagnosed with CHS. The patient exhibited classic CHS features, including hypopigmentation and recurrent infections. Initial treatment with antibiotics led to the resolution of the fever, but severe neutropenia persisted. Granulocyte-colony stimulating factor (G-CSF) therapy was initiated, which resulted in a substantial increase in the absolute neutrophil count (ANC) with no adverse effects. Throughout treatment with G-CSF, the patient remained stable. The patient was finally referred to the tertiary care center for consideration of bone marrow transplantation. This case highlights the potential safety and efficacy of G-CSF in managing CHS-associated neutropenia.

Bronchopleural fistula in a 5- years old child with novel CARMIL 2 mutation: A rare disease and a rare case.

A five year girl had eczema and allergic rhinitis in the past, presented with a history of cough, shortness of breath for the last one month. Her chest -X-ray showed a left side pleural effusion, and a computed tomographic scan (CT) of the chest showed left side hydropneumothorax. Left side 21 Fr drain was inserted. Her clinical condition deteriorated despite antimicrobial therapy, and she required mechanical ventilatory support due to respiratory distress. She also developed a right-sided pneumothorax that was managed by inserting a 21 Fr chest drain. A video-assisted thoracoscopic VATS procedure was done to staple the lung bullae and drain the empyema. Her post-operative chest X-ray showed good lung expansion. Pleural fluid culture report was positive for candida. She was commenced on antifungal microbial therapy. Two days later, she developed again left side pneumothorax, which was again managed by left intercostal drain. We were unable to wean her off from mechanical ventilatory support due to a significant air leak due to bronchopleural fistula. A posterolateral thoracotomy was performed, and the bronchopleural fistula was closed. She was extubated the next day, and intercostal drains were removed on the 4th post-operative day.