General Anesthesia in Schwartz-Jampel Syndrome: A Case Report.

Anesthesiology and pain medicine 2023 Vol.13(3) p. e129305

Derakhshan P, Habibi A, Amniati S

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Abstract

[INTRODUCTION] Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disease characterized by muscle weakness and stiffness, abnormal bone development, short stature, joint contractures, and facial dysmorphisms. Myopathy, anatomical deformities, and malignant hyperthermia are challenging for anesthesiologists.

[CASE PRESENTATION] This case report describes one case of SJS. The female patient was scheduled for Blepharoplasty in Rasuol Akram General Hospital.

[CONCLUSIONS] These patients may have difficult intubation and be prone to malignant hyperthermia. We managed this patient by applying Rocuronium, propofol, and C-MAC video laryngoscopy.

추출된 의학 개체 (NER)

유형영어 표현한국어 / 풀이UMLS CUI출처등장
시술 blepharoplasty 안검성형술 dict 1
해부 muscle scispacy 1
해부 bone scispacy 1
약물 Rocuronium C0209337
rocuronium
scispacy 1
약물 propofol C0033487
propofol
scispacy 1
약물 [INTRODUCTION] Schwartz-Jampel scispacy 1
질환 Schwartz-Jampel Syndrome C0036391
Schwartz-Jampel Syndrome
scispacy 1
질환 SJS → Schwartz-Jampel syndrome C0036391
Schwartz-Jampel Syndrome
scispacy 1
질환 autosomal recessive disease C4016368
Autosomal recessive central core disease
scispacy 1
질환 muscle weakness C0030552
Paresis
scispacy 1
질환 stature C0005890
Body Height
scispacy 1
질환 Myopathy C0026848
Myopathy
scispacy 1
질환 hyperthermia C0015967
Fever
scispacy 1
질환 disease scispacy 1
질환 malignant hyperthermia scispacy 1
기타 Anesthesia scispacy 1
기타 joint scispacy 1

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