J 2023

Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome

HUDEC, Jan and Martina KOSINOVÁ

Basic information

Original name

Anaesthesia recommendations for Zhu-Tokita-Takenouchi-Kim syndrome

Authors

HUDEC, Jan (203 Czech Republic, belonging to the institution) and Martina KOSINOVÁ (203 Czech Republic, belonging to the institution)

Edition

ANASTHESIOLOGIE & INTENSIVMEDIZIN, GERMANY, AKTIV DRUCK & VERLAG GMBH, 2023, 0170-5334

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30223 Anaesthesiology

Country of publisher

Germany

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 0.700 in 2022

RIV identification code

RIV/00216224:14110/23:00131941

Organization unit

Faculty of Medicine

DOI

UT WoS

001163467200002

Keywords in English

Zhu-Tokita-Takenouchi-Kim syndrome; ICD 10: Q87.8; ZTTK syndrome

Tags

Tags

International impact, Reviewed
Změněno: 4/3/2024 07:41, Mgr. Tereza Miškechová

Abstract

V originále

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare multi-organ disease. First cases were mentioned in 2015. This syndrome is typically inherited in an autosomal dominant manner (typically de novo) and is caused by heterozygous mutations in the SON gene (21q22.11). Mutations in this gene lead to abnormal RNA splicing processes, which are essential for metabolic functions and neurodevelopment, including neural cell migration and/or renal development. This disorder can be suspected prenatally through intrauterine growth retardation. ZTTK syndrome abnormalities include a delay of global development, brain abnormalities like corpus callosum abnormalities, ventriculomegaly or cerebellar abnormalities, seizures, and generalised hypotonia. Facial dysmorphism is presented by short philtrum, microcephaly, wide nasal bridge, and midface retrusion. Other abnormalities include scoliosis, joint and muscle contractures, joint hypermobility, visceral malformations like a horseshoe or unilateral kidney, gastrointestinal malformations, or cardiac disorders like an atrial or ventricular septal defect. Patients suffering from ZTTK syndrome can be indicated for corrections of cardiovascular or urogenital abnormalities in addition to surgery for musculoskeletal deformations. Anaesthesiologists have to focus on continual close monitoring due to the potential risk of perioperative complications like difficult airway management (DAM), anaesthesia-induced rhabdomyolysis (AIR), or inspiratory stridor after extubation. Rhabdomyolysis represents a potentially life-threatening complication, especially in these patients suffering from a neuromuscular disorder. Anaesthesiologists should prefer total intravenous anaesthesia (TIVA), eventually with nondepolarising myorelaxants and, avoid volatile anaesthetics and succinylcholine.