TY - JOUR
T1 - Stuve Wiedemann syndrome and related syndromes
T2 - Case report and possible anesthetic complications
AU - Bonthuis, Dominique
AU - Morava, Eva
AU - Booij, Leo H.D.J.
AU - Driessen, Jacques J.
N1 - Funding Information:
The study was partially supported by a grant from Italian Association for Ataxic Syndromes (AISA; 01.2019) to AF.
PY - 2009/3
Y1 - 2009/3
N2 - Stuve Wiedemann syndrome (SWS) is an autosomal recessively inherited syndrome which is characterized by bowing of the long bones, camptodactyly, facial dysmorphism, hypotonia, feeding and swallowing difficulties, and respiratory distress. In most cases episodes of unexplained hyperthermia are present. Patients with SWS can develop hyperthermia in conjunction with anesthesia and surgery, and a relationship has been suggested between the syndrome and malignant hyperthermia. We describe a 3-year-old child diagnosed with SWS to whom we administered general anesthesia during the removal of a corneal ulcer and dilatation of the lacrimal duct. Our patient had received, uncomplicated, inhalational anesthesia five times previously for different operations. There were no anesthesia-related complications in the present or previous perioperative periods. On one occasion the patient developed mild postoperative hyperthermia. We believe that this hyperthermia is different from the specific disorder of malignant hyperthermia and that sevoflurane can be safely used in patients with SWS. We also describe symptomatically related syndromes and their theoretical risks for anesthesia.
AB - Stuve Wiedemann syndrome (SWS) is an autosomal recessively inherited syndrome which is characterized by bowing of the long bones, camptodactyly, facial dysmorphism, hypotonia, feeding and swallowing difficulties, and respiratory distress. In most cases episodes of unexplained hyperthermia are present. Patients with SWS can develop hyperthermia in conjunction with anesthesia and surgery, and a relationship has been suggested between the syndrome and malignant hyperthermia. We describe a 3-year-old child diagnosed with SWS to whom we administered general anesthesia during the removal of a corneal ulcer and dilatation of the lacrimal duct. Our patient had received, uncomplicated, inhalational anesthesia five times previously for different operations. There were no anesthesia-related complications in the present or previous perioperative periods. On one occasion the patient developed mild postoperative hyperthermia. We believe that this hyperthermia is different from the specific disorder of malignant hyperthermia and that sevoflurane can be safely used in patients with SWS. We also describe symptomatically related syndromes and their theoretical risks for anesthesia.
KW - Anesthesia
KW - CNTF receptor pathway
KW - Crisponi syndrome
KW - Pediatric
KW - Schwartz-Jampel syndrome
KW - Stuve Wiedemann syndrome
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U2 - 10.1111/j.1460-9592.2008.02891.x
DO - 10.1111/j.1460-9592.2008.02891.x
M3 - Review article
C2 - 19207241
AN - SCOPUS:60349114248
SN - 1155-5645
VL - 19
SP - 212
EP - 217
JO - Paediatric Anaesthesia
JF - Paediatric Anaesthesia
IS - 3
ER -