Biotinidase deficiency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classified as profound BD and partial BD. Further profound BD can be early onset, late onset, and sometimes may be asymptomatic. Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically affecting function of brain, eye, ear, and skin. Here, a first-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging findings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.

Background: Stridor is a harsh, vibratory sound with variable pitch which is caused by partial obstruction of airway that results in turbulent airflow. It is mainly due to anatomic deformities in the infantile age group. However, various acquired conditions affecting upper airway may also cause stridor. Here, we evaluated 87 cases of stridor using Flexible bronchoscope in order to determine the cause of stridor. Objective: To determine the clinical characteristics, Flexible bronchoscopy findings and clinical correlation in children admitted in our hospital with complains of stridor. Design: Retrospective observational study. Setting: Single center study conducted in Amrut medical foundation. 87 children aged less than 5 years with a clinical complains of stridor were included in the study and Flexible bronchoscopy was performed. The findings were analyzed and results were reported. Results: A total of 87 children with stridor were enrolled in the study and Flexible Bronchoscopy was performed in them. Of these, 68 children had an abnormal bronchoscopy finding. Laryngomalacia was the commonest cause of stridor observed followed by subglottic stenosis and tracheomalacia. Cough was the commonest presenting symptom associated with stridor and tachypnea was the commonest clinical sign observed in these children. Conclusion: Flexible bronchoscopy plays an important role in diagnosing the exact cause of stridor in pediatric age group. Key words: Stridor, Flexible Bronchoscopy, Laryngomalacia.

Flexible bronchoscopy (FB) is a very rewarding procedure in the evaluation and management of appropriately selected children with respiratory issues in pediatric intensive care unit (PICU). An understanding of the alterations in respiratory physiology (airway resistance, compliance, and air exchange) during FB is absolutely essential for the safety of the child. To reduce discomfort and other side effects of FB it is necessary to optimize the condition of the child including sedation, analgesia, paralysis, ventilator settings, and cardiovascular status. With advancements in technology and instrumentation many interventional procedures can be performed safely and effectively using access to the airway through the endotracheal tube, tracheostomy tube, or Laryngeal Mask Airway (LMA). Close monitoring during and after FB minimizes complications.