[Image: masthead]

24-HOUR MH HOTLINE

800-644-9737

Outside NA: 001-209-417-3722
FOR EMERGENCIES ONLY

24-HOUR MH HOTLINE: 800-644-9737
Outside NA: 001-209-417-3722
FOR EMERGENCIES ONLY

Intraoperative Presentation of MH Leads To KD Syndrome Diagnosis

Abstract:

We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup diagnosed the child with King-Denborough syndrome (KDS). This particular mutation has never been documented in a patient with KDS. Atypical presentation of MH is more likely in patients with RYR1-related myopathy. A high index of suspicion for MH in children with myopathy is important. The MH hotline was helpful in the management of this patient when it was called after the initial dose of dantrolene. A neurology consult was essential for the diagnosis of KDS and future care.

PubMed link for this manuscript:

https://www.ncbi.nlm.nih.gov/pubmed/27918309

This item filed in the following categories:
  • General
[Image: MHAUS logo]
The mission of MHAUS is to promote optimum care and
scientific understanding of MH and related disorders.
© 2024 Malignant Hyperthermia Association of the United States. All rights reserved. The claims and opinions expressed in sponsor advertising found on this website are those of the advertiser and not necessarily the views or opinions of MHAUS, its staff or its advertisers. As a matter of policy, MHAUS representatives and clinical experts will not give advice to patients concerning their individual clinical circumstances. The MHAUS corporation does not provide funds or other support directly or indirectly for administrative overhead to institutions.