Early Neurologic Complications and Long-term Neurologic Outcomes of Extracorporeal Membrane Oxygenation Performed in Children.

Background: We aimed at evaluating acute neurologic complications (ANC) and clinical outcome at a 2-year follow-up in children after extracorporeal membrane oxygenation (ECMO).

Methods: We conducted a single-center, retrospective review of our patient cohort aged between 1 month and 18 years at the time of ECMO support (between June 2014 to January 2017). Outcome analysis included ANC and their clinical consequences.

A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.

Abstract: Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable features of this condition include failure to thrive, and developmental delay or intellectual disability. Additional symptoms consist of cognitive impairment, skeletal and dental abnormalities, delayed motor milestones, cardiomyopathy, dysphagia, and respiratory insufficiency.

Severe theophylline poisoning treated with continuous venovenous hemodialysis in a child.

Theophylline poisoning generally occurs due to acute high dose intake as well as chronic intake of the medication. Toxicity symptoms can be seen with a plasma concentration of theophylline over 20 μg/ml. The consequences of theophylline toxicity include metabolic disturbances (hypokalemia, hyperglycemia, and metabolic acidosis), nausea, vomiting, and in severe cases seizures, cardiac arrhythmias, and death.

Genoa syndrome and central diabetes insipidus: a case report.

Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature.