Cornelia de Lange syndrome (CdLS) is a relatively uncommon, multiple malformation syndrome involving neurodevelopmental, craniofacial, cardiac, musculoskeletal and gastrointestinal systems. Anesthetic management of a patient with CdLS may pose a serious problem mainly from difficult tracheal intubation, aspiration complications and cardiac malformation. We report our successful experience in anesthetic management of a 15-month-old male patient with CdLS who underwent orchiopexy for bilateral cryptochidism.
De Lange Syndrome ; Humans ; Infant ; Intubation ; Male ; Orchiopexy

Mitochondrial dysfunction represents a biochemically and clinically diverse group of conditions that can affect any organs with high energy requirement such as brain and muscle being particularly vulnerable. Pyruvate dehydrogenase complex (PDHC) deficiency is one type of mitochondrial dysfuntion that is anesthetically associated with lactic acidosis, muscle hypotonia, malignant hyperthermia, and postoperative respiratory failure. We report a case of general anesthetic management during ventriculoperitoneal shunt in a pediatric patient with PDHC deficiency and its possible considerations.
Acidosis, Lactic ; Brain ; Humans ; Malignant Hyperthermia ; Muscle Hypotonia ; Muscles ; Pyruvate Dehydrogenase Complex ; Pyruvic Acid ; Respiratory Insufficiency ; Ventriculoperitoneal Shunt

Mitochondrial dysfunction represents a biochemically and clinically diverse group of conditions that can affect any organs with high energy requirement such as brain and muscle being particularly vulnerable. Pyruvate dehydrogenase complex (PDHC) deficiency is one type of mitochondrial dysfuntion that is anesthetically associated with lactic acidosis, muscle hypotonia, malignant hyperthermia, and postoperative respiratory failure. We report a case of general anesthetic management during ventriculoperitoneal shunt in a pediatric patient with PDHC deficiency and its possible considerations.
Acidosis, Lactic ; Brain ; Humans ; Malignant Hyperthermia ; Muscle Hypotonia ; Muscles ; Pyruvate Dehydrogenase Complex ; Pyruvic Acid ; Respiratory Insufficiency ; Ventriculoperitoneal Shunt