Birk-Barel syndrome, alternatively known as KCNK9 imprinting syndrome, is caused by a missense mutation in the potassium two pore domain channel subfamily K member 9 (KCNK9) gene on chromosome 8q24.3. This syndrome demonstrates dominant inheritance and is imprinted with paternal silencing, where the paternally inherited allele is silenced, and the maternally inherited allele is active. Congenital hypotonia, palatal abnormalities, intellectual disability, severe feeding difficulties, and dysmorphic facial features characterize this sporadic genetic syndrome. To date, there are approximately 21 molecularly diagnosed individuals worldwide described in the literature. We describe the first known case of Puerto Rican ethnicity, a 16-month-old female born prematurely at 36-weeks with Birk-Barel syndrome, confirmed with whole-exome sequencing, and her response to non-invasive ventilation as a treatment for her sleep breathing disorder.

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Tracheal agenesis (TA) is a rare congenital defect consisting of complete or partial absence of the trachea below the larynx. Antenatal diagnosis is challenging, and most cases are detected in the postnatal period. Airway management of such cases, particularly in the absence of antenatal diagnosis, can be challenging. Various methods of management have been described but with limited success, and overall prognosis remains very poor. We present an unexpected case of TA, highlighting management issues and diagnostic methods.

Acute eididymo-orchitis is the most common cause of intrascrotal inflammation, and retrograde ascent of pathogens is the usual route of infection. Here we intend to present a case of young boy, not sexually active, suffering from acute epididymo-orchitis due to Pseudomonas aeruginosa presented with acute respiratory distress syndrome. Proper timely diagnosis of the primary cause and prompt treatment including support with non invasive ventilation lead to a favourable outcome in the same case.