Obstructive sleep apnea (OSA)

Repetitive episodes of nocturnal breathing cessation due to upper airway collapse for ≥10 sec during sleep. 90-95% of all sleep apnoea cases 2–4% of the adult population Etiopathogenesis Risk factors: Snoring Male gender, middle-age Menopause (women) Obesity (70% cases) Craniofacial and oropharyngeal features: Large neck circumference Retro- /micrognazia Nasal obstruction Enlarged tonsils/adenoids Macroglossia Low-lying soft…

Central sleep apnoea (CSA)

Cessation in airflow of 10 or more seconds in the absence of any inspiratory effort. CSA is diagnosed when ≥ 50% of events are central. Classification International Classification of Sleep Disorders, 2nd edition (ICSD-2): Primary (idiopathic) CSA Cheyne-Stokes breathing (CSB) pattern CSA due to high-altitude periodic breathing CSA due to drug/substance Primary sleep apnoea of…

Slipped capital femoral epiphysis (SCFE)

Posterior & inferior slippage of proximal femoral epiphysis on metaphysis through the epiphyseal plate (growth plate) of femoral neck in an immature hip.

Pompe disease (GSD II)

Autosomal recessive (AR) disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase (GAA), leading to generalized accumulation of lysosomal glycogen especially in the heart, skeletal and smooth muscle, and the nervous system.