Tomonori Furuya1,2, Masumi Itagaki3, Nami Sugaya3, Ryoji Iida3, Takeshi Maeda3, Takahiro Suzuki4. 1. Department of Anesthesiology, Nihon University Hospital, 1-6 Kanda, Surugadai, Chiyoda-ku, Tokyo, 101-8309, Japan. furuya.tomonori@nihon-u.ac.jp. 2. Department of Anesthesiology, Nihon University School of Medicine, 30-1 Oyaguchi, Kamimachi, Itabashi-ku, Tokyo, 173-8610, Japan. furuya.tomonori@nihon-u.ac.jp. 3. Department of Anesthesiology, Nihon University Hospital, 1-6 Kanda, Surugadai, Chiyoda-ku, Tokyo, 101-8309, Japan. 4. Department of Anesthesiology, Nihon University School of Medicine, 30-1 Oyaguchi, Kamimachi, Itabashi-ku, Tokyo, 173-8610, Japan.
Abstract
BACKGROUND: Sialidosis is an autosomal recessive glycoprotein storage disorder, caused by neuraminidase deficiency which leads to abnormal intracellular accumulation and urinary excretion of sialylated oligosaccharides, resulting in various morphological and functional disorders. Only a few reports have described the anesthetic managements of patients with sialidosis. CASE PRESENTATION: A 49-year-old woman with type 1 sialidosis suffered from all limb contractures, an ocular cherry-red spot, and myoclonic seizures of the limbs. She had been cognitively normal. She was separately scheduled for mastectomy under total intravenous anesthesia and total hysterectomy under combined general and epidural anesthesia uneventfully. CONCLUSIONS: Our patient with type 1 sialidosis received both general and epidural anesthesia uneventfully. Anesthesiologists should carefully assess patients with sialidosis and give careful consideration to individually tailored anesthetic managements.
BACKGROUND:Sialidosis is an autosomal recessive glycoprotein storage disorder, caused by neuraminidase deficiency which leads to abnormal intracellular accumulation and urinary excretion of sialylated oligosaccharides, resulting in various morphological and functional disorders. Only a few reports have described the anesthetic managements of patients with sialidosis. CASE PRESENTATION: A 49-year-old woman with type 1 sialidosis suffered from all limb contractures, an ocular cherry-red spot, and myoclonic seizures of the limbs. She had been cognitively normal. She was separately scheduled for mastectomy under total intravenous anesthesia and total hysterectomy under combined general and epidural anesthesia uneventfully. CONCLUSIONS: Our patient with type 1 sialidosis received both general and epidural anesthesia uneventfully. Anesthesiologists should carefully assess patients with sialidosis and give careful consideration to individually tailored anesthetic managements.
Entities:
Keywords:
Epidural anesthesia; Lysosomal storage disease; Sialidosis; Total intravenous anesthesia
Authors: A V Pshezhetsky; C Richard; L Michaud; S Igdoura; S Wang; M A Elsliger; J Qu; D Leclerc; R Gravel; L Dallaire; M Potier Journal: Nat Genet Date: 1997-03 Impact factor: 38.330