Cerebral Palsy: A Current Perspective.

Cerebral palsy (CP) is the most common cause of motor disability in children. Insults to the brain at different times lead to diverse injuries. As a result, CP is an extremely heterogeneous clinical diagnosis, presenting differently in each individual and at various ages. With improving survival rates of preterm newborns, increasing active resuscitation of extremely preterm newborns, and widespread availability of extensive genetic testing soon after birth, it is imperative to focus on earlier diagnosis and long-term outcomes of CP. CP is primarily classified into 4 categories based on type of motor impairment, functional ability, distribution, and etiology. As the understanding of CP has evolved significantly in the last 2 decades, the methods of early detection of CP have consequently advanced. Appropriate diagnosis is essential for proper education and counseling of affected families, and introduction of therapeutic interventions as early as possible. In this review, we focus on early brain development and provide an overview of the etiology, classification, diagnosis, early therapeutic options, and prognosis of CP.

Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.

Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. HI is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12 (ABCA12). Neonates are born with a distinct clinical appearance, encased in a dense, platelike keratotic scale separated by deep erythematous fissures. Facial features are distorted by severe ectropion, eclabium, flattened nose, and rudimentary ears. Skin barrier function is markedly impaired, which can lead to hypernatremic dehydration, impaired thermoregulation, increased metabolic demands, and increased risk of respiratory dysfunction and infection. Historically, infants with HI did not survive beyond the neonatal period; however, recent advances in neonatal intensive care and coordinated multidisciplinary management have greatly improved survival. In this review, the authors combine the growing HI literature with their collective experiences to provide a comprehensive review of the management of neonates with HI.