Case presentation: 9-year-old female, born at term by vaginal delivery without complications. Referred to the neurologist due learning difficulties and gait imbalance. She was with mild hypotonia, presenting difficulty in breastfeeding, but did not need any ventilatory support. diagnosed congenital clubfoot which successfully treated until age of 2 years 4 months. Extended screening for inborn ...

Case presentation: A male infant, cesarean term delivery. His mother had an unremarkable pregnancy. Apgar score of 8/10 and weight 2,945 g. Newborn screening tests were normal. At 8 days age, he presented with episodes impaired awareness, unresponsiveness clonus the limbs, lasting for up to one minute. Phenobarbital was initiated, attaining full seizure control. 6 months developed dystonia chor...

Case presentation: D.H.S., male, 23 months, non-consanguineous parents, born at term, pregnancy and delivery without complications, healthy 7-year-old brother, no cases of epilepsy or developmental delay in the family. From birth he had difficulty breastfeeding hypotonia, 3 months started episodes behavioral arrest, 9 lip cyanosis, hypertonia four limbs lasting less than one minute post-ictal w...

The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists. The condition refers to an infant with generalized hypotonia presenting at birth or in early life. The diagnostic work up in many instances is often complex, and requires multidisciplinary assessment. Advances in genetics and neurosciences have lead to recognition of newer diagnostic entities (several c...