scholarly journals Anesthetic Management of a Rett Syndrome Patient at High Risk for Respiratory Complications

2021 ◽  
Vol 68 (3) ◽  
pp. 163-167
Author(s):  
Nobuhito Kamekura ◽  
Takayuki Hojo ◽  
Yukie Nitta ◽  
Yuri Hase ◽  
Toshiaki Fujisawa
Keyword(s):  
Rett Syndrome ◽  
Dental Treatment ◽  
Genetic Disorder ◽  
Anesthetic Management ◽  
General Anesthetic ◽  
Respiratory Complications ◽  
Contributing Factors ◽  
Severe Scoliosis ◽  
First Case ◽  
Postural Changes

Rett syndrome (RTT) is a rare genetic disorder that can present challenges in airway management during general anesthesia. This is a case report involving a 23-year-old woman with RTT who received an intubated general anesthetic 3 times for dental treatment. The patient also had severe scoliosis, was bedridden, and had dysphagia. These contributing factors likely led to the development of postoperative respiratory complications including pneumonia after the first case. As a result, several changes were incorporated into the 2 subsequent anesthetic plans in efforts to reduce the risk of such complications. Despite these measures, the patient was suspected of having bronchitis postoperatively after the second anesthetic, although the third occurred uneventfully. Anesthetic management alterations included use of desflurane for anesthetic maintenance and postoperatively delaying oral intake and instituting active postural changes.

scholarly journals Anesthetic Management of a Patient With Citrullinemia Type I During Dental Treatment

2021 ◽  
Vol 68 (3) ◽  
pp. 158-162
Author(s):  
Makiko Shibuya ◽  
Rie Iwamoto ◽  
Yukifumi Kimura ◽  
Nobuhito Kamekura DDS ◽  
Toshiaki Fujisawa
Keyword(s):  
Dental Treatment ◽  
Genetic Disorder ◽  
Anesthetic Management ◽  
Third Molar ◽  
Intravenous Sedation ◽  
Type I ◽  
Oral Medications ◽  
Gag Reflex ◽  
Serum Ammonia ◽  
Citrullinemia Type I

We report a case involving intravenous sedation for third molar extractions in a 32-year-old man with citrullinemia type I (CTLN1), a genetic disorder that affects the urea cycle. The patient was diagnosed with CTLN1 after he exhibited seizures soon after birth and was intellectually disabled because of persistent hyperammonemia, although his recent serum ammonia levels were fairly well controlled. We planned to minimize his preoperative fasting, continue his routine oral medications, and monitor his serum ammonia levels at least twice. Sedation with midazolam and a propofol infusion was planned to suppress his gag reflex and reduce protein hypercatabolism due to stress. Epinephrine-containing local anesthetics, which enhance protein catabolism, were avoided, replaced by plain lidocaine for blocks and prilocaine with felypressin for infiltration anesthesia. No significant elevation in ammonia levels was observed. In patients with CTLN1, sedation can be useful for preventing hyperammonemia. Patients who develop symptomatic hyperammonemia may require urgent/emergent treatment involving other medical specialists. Therefore, preoperative endocrinology consultation, perioperative monitoring of serum ammonia levels, and preemptively coordinating for appropriate care in the event hyperammonemia occurs should all be considered.

scholarly journals Anesthetic management with a neuromuscular relaxant and sugammadex in a patient with Prader–Willi syndrome: A case report

2020 ◽  
Vol 8 ◽  
pp. 2050313X2092761
Author(s):  
Kyung Woo Kim ◽  
Seung Hwan Kim ◽  
Eun Jin Ahn ◽  
Hyo Jin Kim ◽  
Hey Ran Choi ◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Disorder ◽  
Anesthetic Management ◽  
Neuromuscular Blocking ◽  
Neuromuscular Blocking Agents ◽  
Facial Features ◽  
Prader Willi Syndrome ◽  
Respiratory Complications ◽  
Ophthalmic Surgery ◽  
Neuromuscular Relaxant

Prader–Willi syndrome is a genetic disorder that is characterized by obesity, characteristic facial features, hypotonia, and sleep apnea. These abnormalities mean that airway management is difficult in such patients. Several previous reports suggest that neuromuscular blocking agents should not be used to reduce airway and respiratory complications in these patients. However, this is not always possible. Here, we report the case of a patient with Prader–Willi syndrome in whom anesthesia for ophthalmic surgery was managed successfully using sugammadex after administration of rocuronium.

scholarly journals Mask Induction for an Intellectually Disabled Patient With Congenital Infiltrating Lipomatosis of the Face

2020 ◽  
Vol 67 (2) ◽  
pp. 98-102
Author(s):  
Hitoshi Yamanaka ◽  
Masanori Tsukamoto ◽  
Takashi Hitosugi ◽  
Takeshi Yokoyama
Keyword(s):  
Soft Tissues ◽  
Fiber Optic ◽  
Dental Treatment ◽  
Anesthetic Management ◽  
General Anesthetic ◽  
Intellectually Disabled ◽  
Nasopharyngeal Airway ◽  
The Face ◽  
Difficult Airways ◽  
The Right

Airway management for patients with craniofacial disorders poses many challenges. Congenital infiltrating lipomatosis of the face (CILF) is an extremely rare disorder in which mature lipocytes invade adjacent tissues in the head and neck. The manifestations are typically unilateral, often with associated hypertrophy of both the hard and soft tissues of the face. This is a case report regarding the anesthetic management for a 5-year-old intellectually disabled female with CILF involving the right side of her face who underwent a successful intubated general anesthetic for dental treatment. Awake fiber-optic intubations are recommended and routinely used for patients with suspected or confirmed difficult airways. In this case, substantial distortion of the normal facial anatomy was observed clinically with noted hypertrophy of the right maxilla, mandible, and right side of the tongue. Further complicating matters was the patient's inability to fully cooperate because of her intellectual disability, precluding the option of an awake fiber-optic intubation. To secure the airway following mask induction of anesthesia, spontaneous ventilation was carefully maintained using sevoflurane, nitrous oxide, and oxygen combined with the application of a nasopharyngeal airway. Despite compression of the oral cavity and upper pharyngeal space by the hypertrophic tissues due to CILF, the space in and around the glottis was preserved. Intubation was completed easily with the use of a fiber-optic scope without any serious complications.

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

scholarly journals General anesthesia with remimazolam in a patient with mitochondrial encephalomyopathy: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Yuji Suzuki ◽  
Matsuyuki Doi ◽  
Yoshiki Nakajima
Keyword(s):  
Lactic Acidosis ◽  
General Anesthesia ◽  
Mitochondrial Disease ◽  
Muscle Relaxation ◽  
Anesthetic Management ◽  
Perioperative Period ◽  
Mitochondrial Encephalomyopathy ◽  
Anesthesia Induction ◽  
General Anesthetic ◽  
Anesthetic Agents

Abstract Background Systemic anesthetic management of patients with mitochondrial disease requires careful preoperative preparation to administer adequate anesthesia and address potential disease-related complications. The appropriate general anesthetic agents to use in these patients remain controversial. Case presentation A 54-year-old woman (height, 145 cm; weight, 43 kg) diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes underwent elective cochlear implantation. Infusions of intravenous remimazolam and remifentanil guided by patient state index monitoring were used for anesthesia induction and maintenance. Neither lactic acidosis nor prolonged muscle relaxation occurred in the perioperative period. At the end of surgery, flumazenil was administered to antagonize sedation, which rapidly resulted in consciousness. Conclusions Remimazolam administration and reversal with flumazenil were successfully used for general anesthesia in a patient with mitochondrial disease.

scholarly journals A Knowledge-Based Algorithm for Automatic Monitoring of Orthodontic Treatment: The Dental Monitoring System. Two Cases

Sensors ◽  
2021 ◽  
Vol 21 (5) ◽  
pp. 1856
Author(s):  
Silvia Caruso ◽  
Sara Caruso ◽  
Marianna Pellegrino ◽  
Rayan Skafi ◽  
Alessandro Nota ◽  
...  
Keyword(s):  
Adult Patient ◽  
Remote Monitoring ◽  
Digital Technology ◽  
Orthodontic Treatment ◽  
Dental Treatment ◽  
Automatic Monitoring ◽  
Software As A Service ◽  
Knowledge Based ◽  
First Case ◽  
Service Application

Background: In the dental field, digital technology has created new opportunities for orthodontists to integrate their clinical practice, and for patients to collect information about orthodontics and their treatment, which is called “teledentistry.” Dental monitoring (DM) is a recently introduced orthodontic application that combines safe teledentistry with artificial intelligence (AI) using a knowledge-based algorithm, allowing an accurate semi-automatic monitoring of the treatment. Dental Monitoring is the world’s first SaaS (Software as a Service) application designed for remote monitoring of dental treatment, developed in Paris, France, with Philippe Salah as the Co-founder and CEO. Cases presentation: This report describes two cases in which DM system was essential to achieve the control of certain movements: it was possible to follow the movement, even if complex, such as the anterior cross of an adult patient and a lack of space in the canine of the growing patient. The software analyzed the fit and retention of the aligner, thus ensuring correct biomechanics. They were treated during the COVID-19 pandemic lockdown with aligners. The first case is a growing patient who was monitored during an interceptive orthodontic treatment to manage a retained upper canine. The second case is an adult patient forced to finalize his treatment of upper lateral incisor crossbite. The software analyzed the fit and retention of the aligner, thus ensuring correct biomechanics. Conclusions: DM system appears to be a promising method, useful for improving the interaction between doctor and patient, generally acceptable and useful to patients, even in critical clinical situations, at least in cases with optimal compliance and ability to use the tool properly.

scholarly journals Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation

2021 ◽  
Vol 11 (01) ◽  
pp. e38-e41
Author(s):  
Saurabh Maheshwari ◽  
Sonam Yangzom ◽  
K. Uday Bhanu ◽  
Uddandam Rajesh ◽  
Ashok Narayan
Keyword(s):  
Western Europe ◽  
Indian Subcontinent ◽  
Genetic Disorder ◽  
Rare Condition ◽  
Bone Dysplasia ◽  
Feedback Mechanism ◽  
Early Presentation ◽  
First Case ◽  
Cranial Nerve Palsies ◽  
Van Buchem Disease

AbstractVan Buchem disease is a rare autosomal recessive genetic disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to a variety of neurological symptoms. It has been reported in less than 50 patients most of which were in western Europe. We report the first case of this condition from the Indian subcontinent with an early presentation. This patient presented with a global delay in attaining the developmental milestones and progressive reduction in visual acuity and loss of hearing. He had dysmorphic facies, multiple cranial nerve palsies, and severe visual and auditory deficits. Imaging revealed sclerosing bone dysplasia. This case illustrates the clinical and imaging findings of this rare condition.

Exclusive Neurogenic Bladder and Fecal Incontinency in an Achondroplasic Child Successfully Treated with Lumbar Foraminal Decompression

2021 ◽  
pp. 1-6
Author(s):  
Flavio Giordano ◽  
Matteo Lenge ◽  
Pierarturo Donati ◽  
Lorenzo Mongardi ◽  
Gianpiero Di Giacomo ◽  
...  
Keyword(s):  
Fecal Incontinence ◽  
Neurogenic Bladder ◽  
Genetic Disorder ◽  
Motor Impairment ◽  
Foramen Magnum ◽  
Clinical Findings ◽  
Lumbar Stenosis ◽  
Endochondral Bone ◽  
Case Presentation ◽  
First Case

<b><i>Introduction:</i></b> Achondroplasia is a genetic disorder characterized by defects in the development of endochondral bone resulting in skeletal abnormalities like stenosis of the foramen magnum and of the spine, shortened limb bones, and macrocephaly. Congenital spinal stenosis is frequent and due to premature fusion of the pedicles to the laminae. <b><i>Case Presentation:</i></b> We report a case of neurogenic bladder and fecal incontinence due to lumbar stenosis successfully treated with L1–L5 partial laminectomy and foraminotomy in a 7-year-old achondroplasic child. <b><i>Discussion/Conclusion:</i></b> To our knowledge, this is the first case report of exclusive neurogenic bladder and fecal incontinence in an achondroplasic child. Neurogenic bladder and fecal incontinence without motor impairment may be early and exclusive clinical findings of lumbar stenosis in children with achondroplasia.

scholarly journals Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases

2021 ◽  
Vol 12 ◽  
Author(s):  
Harsh Sheth ◽  
Jhanvi Shah ◽  
Aadhira Nair ◽  
Premal Naik ◽  
Jayesh Sheth
Keyword(s):  
Genetic Disorder ◽  
Case Series ◽  
Missense Variant ◽  
Community Analysis ◽  
Gait Disturbance ◽  
Mutant Genotype ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
First Case ◽  
Abnormal Posture ◽  
Biallelic Mutations

Biallelic mutations in the CCN6 gene are known to cause a rare genetic disorder—progressive pseudorheumatoid dysplasia (PPD). PPD is characterized by distinct joint deformities of interphalangeal joints, stiffness, gait disturbance, abnormal posture, and absence of inflammation, resulting in significant morbidity. The largest case series of PPD from India suggests c.233G&gt;A and c.1010G&gt;A to be the most common mutations in the CCN6 gene, although the distribution of these variants among endogamous communities in India has not been carried out. We here report three cases of PPD from three independent families belonging to the Patni community of Gujarat, a community known to practice endogamy. All three cases had short stature, gait disturbance, scoliosis, and interphalangeal joint deformities. Analysis by whole-exome sequencing in the first case showed the presence of a previously known, homozygous, missense variant c.298T&gt;A (p.Cys100Ser) in exon 3 of the CCN6 gene in all cases. Due to all three families belonging to the same community, analysis by Sanger sequencing in the remaining two cases for the variant mentioned earlier showed both cases to be of homozygous mutant genotype. Unaffected family members, i.e., parents and siblings, were either heterozygous carriers or wildtype for the said variant. The present case series is the first report of a recurrent variant occurring across multiple PPD-affected individuals from unrelated families belonging to the same community from India.

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