Neonatal Hypotonia: A Case Series

Floppy baby is a non-specific and potentially serious multisystem disorder in the neonatal period. Diagnosing hypotonia in a newborn is very difficult as many disorders could manifest with diminished tone. In most cases, medical history and laboratory tests are useful for diagnosis, but they still require advanced research such as whole exome sequencing. The objective of this study was to know the presentation and how we evaluated hypotonia by using basic investigations to comprehensive molecular genetics tests which provides the advantage of the rapidity and diagnostic specificity as a part of the workup. Methods: This study was conducted on infants hospitalised in NICU at a tertiary care centre (Niloufer hospital), Hyderabad, Telangana, India. Clinical presentations, clinical examinations, laboratory tests, imaging, and genetic studies were reviewed. Clinical assessment includes evaluation of muscle tone, primitive reflexes, deep tendon reflexes, resting postures, and maneuvers. We used images and molecular genetic tests in the required cases. Results: Ten babies with hypotonia were studied. The male to female ratio was 6:4. The most common complaint was poor feeding, and other presentations were seizures, tachypnea, and icterus. On examination, all cases had hypotonia with absent DTR, and a few cases had dysmorphism