Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.

TRAPPC4-related neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MIM# 618741) is a recently described TRAPPopathy with clinical findings of developmental delay, seizures, postnatal microcephaly, spasticity, facial dysmorphism, and cerebral and cerebellar atrophy. Muscle involvement, a frequent finding in TRAPPopathies, was observed in one individual with TRAPPC4-related disorder previously. Only a single variant, an in-frame deletion in one family has been reported outside a recurrent disease-causing variant.

Practices of Initiation of Vasoactive Drugs in Relation to Resuscitation Fluids in Children with Septic Shock: A Prospective Observational Study.

The role of vasoactive medications in septic shock is well-defined, but the appropriate time of initiation of these medications in reference to fluid boluses is not clear. We planned to study prospectively the practices and outcome of initiation of vasoactive infusions with respect to resuscitation fluids boluses in pediatric septic shock. Children aged 1 month to 18 years diagnosed with septic shock were enrolled to receive fluid resuscitation boluses along with vasoactive drugs.