scholarly journals Anesthetic management for mastectomy and total hysterectomy in a 49-year-old woman with type 1 sialidosis: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Tomonori Furuya ◽  
Masumi Itagaki ◽  
Nami Sugaya ◽  
Ryoji Iida ◽  
Takeshi Maeda ◽  
...  
Keyword(s):  
Epidural Anesthesia ◽  
Autosomal Recessive ◽  
Anesthetic Management ◽  
Careful Consideration ◽  
Intravenous Anesthesia ◽  
Case Presentation ◽  
Cognitively Normal ◽  
Total Hysterectomy ◽  
Cherry Red Spot

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.

Clinical Features of Infantile GM1 Gangliosidosis: Report of an Iranian Patient

2020 ◽  
Author(s):  
Mahtab Ordooei ◽  
Razieh Fallah ◽  
Fatemeh Abdi ◽  
Fahimeh Soheilipour
Keyword(s):  
Lysosomal Storage ◽  
Gm1 Gangliosidosis ◽  
Case Presentation ◽  
Iranian Patient ◽  
Cherry Red Spot ◽  
Type 3 ◽  
Initial Check ◽  
Infantile Type

Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease due to a lack of β-galactosidase activity, exactly because of mutations in the GLB1 gene. GM1 gangliosidosis is a rare disease that could occur either during infancy (infantile type 1), as a juvenile (type 2), or in adulthood (type 3) in both nervous and skeletal systems. Type 1 is characterized by premature psychomotor deterioration, visceromegaly, macular cherry-red spot, skeletal deformities, and death in the first 2 years of life. Case Presentation: We reported an Iranian infant who, on initial check-up, had coarse face, visceromegaly, dystonia, and hepatosplenomegaly that increased at 15 months of age. At the initial check-up, a genetic test was performed and GM1 gangliosidosis type 1 was diagnosed. Conclusion: infant form is characterized by early-onset before the age of 6 months and rapidly progressive psychomotor deterioration, facial abnormalities, and visceromegaly.

scholarly journals Unusual case of Juvenile Tay-Sachs disease

2019 ◽  
Vol 12 (9) ◽  
pp. e230140
Author(s):  
Huma A Cheema ◽  
Nadia Waheed ◽  
Anjum Saeed
Keyword(s):  
Autosomal Recessive ◽  
Unusual Case ◽  
Neurodegenerative Disorder ◽  
Sphingolipid Metabolism ◽  
Tay Sachs Disease ◽  
First Case ◽  
Hexosaminidase A ◽  
Cherry Red Spot ◽  
Autosomal Recessive Manner

Tay-Sachs disease (TSD) is a type 1 gangliosidosis (GM2) and caused by hexosaminidase A deficiency resulting in abnormal sphingolipid metabolism and deposition of precursors in different organs. It is a progressive neurodegenerative disorder transmitted in an autosomal-recessive manner. There is an accumulation of GM2 in neurocytes and retinal ganglions which result in progressive loss of neurological function and formation of the cherry-red spot which is the hallmark of TSD. We report the first case of juvenile TSD from Pakistan in a child with death of an older sibling without the diagnosis.

scholarly journals Robotic-assisted proximal gastrectomy using the double-flap technique for early gastric cancer with situs inversus totalis: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Atsushi Takeno ◽  
Toru Masuzawa ◽  
Shinsuke Katsuyama ◽  
Kohei Murakami ◽  
Kenji Kawai ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Situs Inversus ◽  
Autosomal Recessive ◽  
Intraoperative Complications ◽  
Proximal Gastrectomy ◽  
Situs Inversus Totalis ◽  
Upper Body ◽  
Robot Assisted ◽  
Case Presentation ◽  
First Case

Abstract Background The robotic system has been applied in the treatment of gastric cancer (GC), and the procedure has been found to be safe and feasible. Situs inversus totalis (SIT) is a relatively rare autosomal recessive congenital anomaly. We successfully performed robot-assisted proximal gastrectomy (RAPG) and handsewn double-flap esophagogastrostomy for GC in a patient with SIT. Case presentation A 71-year-old woman was referred to us with an asymptomatic ulcerative lesion in the upper body of the stomach. Computed tomography revealed that she had SIT. She was diagnosed with cT1bN0M0, cStageIA gastric cancer. RAPG with lymph node dissection and handsewn double-flap esophagogastrostomy was performed. Robotic surgery enabled the surgeon to perform the surgery without changing his position and experiencing any confusion resulting from the patient’s reversed anatomy. It took 448 min, and no intraoperative complications occurred. Her postoperative course was uneventful; she was discharged on postoperative day 10. The final pathologic report showed pT1b1N0M0, pStage IA. Conclusions This is the first case describing RAPG with handsewn double-flap esophagogastrostomy for a SIT patient with early GC.

scholarly journals Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Valentina Orlandi ◽  
Paolo Cavarzere ◽  
Laura Palma ◽  
Rossella Gaudino ◽  
Franco Antoniazzi
Keyword(s):  
Genetic Analysis ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Neurofibromatosis Type ◽  
Case Presentation ◽  
New Variant ◽  
Legius Syndrome ◽  
Timing Of Puberty ◽  
First Time

Abstract Background Central precocious puberty is a condition characterized by precocious activation of the hypothalamic-pituitary-gonadal axis. It may be idiopathic or secondary to organic causes, including syndromes such as Neurofibromatosis type 1 (NF1). Case presentation We presented a girl of 6 years and 10 months with almost 11 café-au-lait skin macules, without other clinical or radiological signs typical of NF1, and with a central precocious puberty. Genetic analysis evidenced the new variant NM-152594.2:c.304delAp. (Thr102Argfs*19) in SPRED1 gene, which allowed to diagnose Legius syndrome. Conclusions We report for the first time a case of central precocious puberty in a girl with Legius syndrome. The presence of central precocious puberty in a child with characteristic café-au-lait macules should suggest pediatricians to perform genetic analysis in order to reach a definitive diagnosis. Further studies on timing of puberty in patients with RASopathies are needed to better elucidate if this clinical association is casual or secondary to their clinical condition.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

Anesthetic management in two siblings with glutaric aciduria type 1

2006 ◽  
Vol 16 (2) ◽  
pp. 188-191 ◽  
Author(s):  
JOAQUIN HERNANDEZ-PALAZON ◽  
LORENZO SANCHEZ-RODENAS ◽  
JUAN F. MARTINEZ-LAGE ◽  
ISABEL CASTANO COLLADO
Keyword(s):  
Anesthetic Management ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

scholarly journals Remimazolam anesthesia for cardiac surgery with cardiopulmonary bypass: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Kota Saito ◽  
Sho Ohno ◽  
Makishi Maeda ◽  
Naoyuki Hirata ◽  
Michiaki Yamakage
Keyword(s):  
Cardiac Surgery ◽  
Cardiopulmonary Bypass ◽  
Oxygen Saturation ◽  
Anesthetic Management ◽  
Perioperative Period ◽  
Maze Procedure ◽  
Intraoperative Awareness ◽  
Case Presentation ◽  
Venous Oxygen Saturation ◽  
Index Value

Abstract Background Remimazolam has less cardiovascular depressant effects than propofol in non-cardiac surgical patients. However, the efficacy and safety of remimazolam in cardiac surgery with cardiopulmonary bypass (CPB) have not been reported. We present a case of successful anesthetic management using remimazolam in cardiac surgery with CPB. Case presentation A 76-year-old female was scheduled for mitral valve repair, tricuspid annuloplasty, maze procedure, and left atrial appendage closure. We used remimazolam in induction (6.0 mg/kg/h) and maintenance (0.6–1.0 mg/kg/h) of general anesthesia, and the bispectral index value was maintained in the range of 36 to 48 including the period of CPB. Hemodynamics, mixed venous oxygen saturation, and bilateral regional cerebral oxygen saturation were maintained within acceptable ranges. There was no intraoperative awareness/recall or serious complications associated with remimazolam throughout the perioperative period. Conclusions Remimazolam can be used the same as other existing anesthetics in cardiac surgery with CPB.

scholarly journals Sudden Cause of Cardiac Death—Be Aware of Me: A Case Report and Short Review on Brugada Syndrome

2010 ◽  
Vol 2010 ◽  
pp. 1-3 ◽  
Author(s):  
Jagadeesh K. Kalavakunta ◽  
Vishwaroop Bantu ◽  
Hemasri Tokala ◽  
Mihas Kodenchery
Keyword(s):  
Brugada Syndrome ◽  
Past History ◽  
Short Review ◽  
Case Presentation ◽  
St Segment Elevation ◽  
First Case ◽  
St Segment ◽  
The Right ◽  
Malignant Arrhythmias

Introduction. Brugada syndrome accounts for about 4% of sudden cardiac deaths (SCD). It is characterized by an ST-segment elevation in the right precordial electrocardiogram (EKG) leads.Case Presentation. We describe a 39-year-old healthy Caucasian man who was admitted to the intensive care unit after being cardioverted from ventricular fibrillation (VF) arrest. His past history was significant for an episode of syncope one month prior to this presentation for which he was admitted to an outlying hospital. EKG during that admission showed ST elevations in V1 and V2 leads, a pattern similar to Type 1 Brugada. A diagnosis of Brugada syndrome was missed and the patient had a cardiac arrest a month later. We discuss a short review of Brugada syndrome and emphasize the need to look for it in patients presenting with SCD and malignant arrhythmias.Conclusion. Physicians should always consider Brugada syndrome in the differential diagnosis of ST-segment elevation in anterior precordial leads of EKG and associated VT/VF. Although more than 17 years have passed since the first case was reported, increased awareness of this syndrome is needed to identify patients with EKG changes and treat them accordingly to prevent incidence of (SCD) and its deleterious complications.

scholarly journals Incidental Findings of Brugada Syndrome Type-1 and Epsilon-Like Pattern in Otherwise Healthy Man: a Case Report

2022 ◽  
Author(s):  
Brian Mendel ◽  
Valerie Dirjayanto ◽  
Radityo Prakoso ◽  
Sisca Siagian
Keyword(s):  
Brugada Syndrome ◽  
Unknown Origin ◽  
Initial Assessment ◽  
Structural Abnormality ◽  
Bundle Branch Block ◽  
Case Presentation ◽  
Electrophysiology Study ◽  
Esc Guidelines

Abstract Background: Brugada Syndrome (BrS) and arrhythmogenic right ventricle dysplasia (ARVD) are rare cardiomyopathies predisposing to sudden cardiac death (SCD). Comprehending the electrocardiographic features of these cardiomyopathies are crucial especially in emergency settings.Case presentation: A 25-year old medical student presented with no complaints, but had episodes of syncope, chest pain, and palpitations of unknown origin 10 years ago. The initial assessment showed stable hemodynamics. During examination, the ECG demonstrated incomplete right bundle branch block, Brugada-type 1 pattern, with signs of Epsilon wave. The following year, assessment of the ECG was repeated and findings were found suggestive of Brugada syndrome, although his echocardiography showed no structural abnormality. According to ESC guidelines, asymptomatic Brugada patients should undergo electrophysiology study.Conclusion: Careful follow-up with electrophysiology study is recommended for this patient in order to identify the likelihood of true Brugada and suitability for radiofrequency ablation or implantation of implantable cardioverter defibrillator (ICD).

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