Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An eight-year-old boy with Cornelia de Lange syndrome underwent left inguinal hernioplasty and orchiopexy under general anesthesia. The patient with Cornelia de Lange syndrome had severe primordial growth failure with muscle-skeletal system such as cleft palate, micrognathia, and micromelia of the extremities and mental retardation as well as characteristic faces such as deep supercilia, etc. We suspected difficulty of endotracheal intubation due to this syndrome. Anesthesia was induced with intravenous injection of atropine 0.1 mg and ketamine 10 mg followed by inhalation of nitrous oxide 3 l x min(-1), oxygen 3 l x min(-1), and sevoflurane 5% without any muscle relaxant. Although his neck and temporomandibular joint were stiff, his trachea was intubated orally without difficulty with a 4.5 mm ID tracheal tube using a Macintosh laryngoscope. Anesthesia was maintained uneventfully by bolus intravenous injection of ketamine 5 mg and inhalation of oxygen and sevoflurane 2-3% with mechanical ventilation. The anesthetic management in a patient with Cornelia de Lange syndrome should be carried out with careful preoperative evaluation of physical status, and especially the difficult endotracheal intubation should be kept in mind. Induction of general anesthesia with injection of ketamine followed by inhalation of sevoflurane without muscle relaxant is a safe method in Cornelia de Lange syndrome.
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PMID:[Anesthetic management in a patient with Cornelia de Lange syndrome]. 1544 85

Congenital Central Hypoventilation Syndrome (CCHS, also known as Ondine's Curse) is a rare syndrome characterized by apnea, cyanosis, and hypotonia. A 4-year-old, 90-cm, 12-kg girl with CCHS, mental retardation (MR), and Hischsprung's disease (HD) was treated under general anesthesia. Intravenous drugs were not used, but sevoflurane, a volatile anesthetic, was used. As a result, the recovery time from the end of the operation to returning to the ward was very short, only 18 minutes. There was no trouble during the perioperative period. We safely performed general anesthesia and dental treatment for a girl who had CCHS with HD and MR.
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PMID:Anesthetic management of a child with congenital central hypoventilation syndrome (CCHS, Ondine's curse) for dental treatment. 1549

A 22-year-old female with an extensive medical and surgical history that included mental retardation presented for dental treatment under conscious sedation at a special needs clinic. The patient's history revealed a delayed diagnosis of celiac disease (CD) that resulted in growth retardation with poor muscle development. Because of the patient's delayed diagnosis of CD and history of difficult airway management, special considerations were necessary for proper anesthesia administration.
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PMID:Anesthetic management of a patient with celiac disease. 1566 78

Williams syndrome is a rare disorder that was first described in 1961. It is thought to be caused by a microdeletion in the long arm of chromosome 7 at 7q11.23 and is a multisystem, congenital, and panethnic disorder characterized by a number of developmental and physical abnormalities, including congenital cardiovascular abnormalities, mental retardation and neurological features, growth deficiency, genitourinary manifestation, gastrointestinal and musculoskeletal problems, behavioral characteristics, craniofacial features, ophthalmologic features, and dental problems. We describe cases of children with Williams syndrome treated in the department of Pediatric Dentistry of the Hadassah School of Dental Medicine, Jerusalem, Israel. The different treatments rendered to these children are discussed followed by general remarks drawn from those treatments and from a literature review. We conclude that sedation can be helpful in the younger age group to reduce anxiety and uncooperative behavior during minimal dental treatments. Treatment under general anesthesia seems more appropriate for older children and adolescents. Special attention should be given to initial evaluation of these patients, especially because with age aortic stenosis tends to intensify, which together with the progressive renal impairment can escalate blood pressure elevation.
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PMID:Medical considerations in dental treatment of children with Williams syndrome. 1582 80

Progressive muscular dystrophy may produce abnormal reactions to several drugs. There is no consensus of opinion regarding the continuous infusion of propofol in patients with progressive muscular dystrophy. We successfully treated 2 patients with progressive muscular dystrophy who were anesthetized with a continuous infusion of propofol. In case 1, a 19-year-old, 59-kg man with Becker muscular dystrophy and mental retardation was scheduled for dental treatment under general anesthesia. General anesthesia was maintained by a continuous infusion of 6-10 mg/kg propofol per hour and an inhalational mixture of 67% nitrous oxide and 33% oxygen. No complications were observed during or after the operation. In case 2, a 5-year-old, 11-kg boy with Fukuyama type congenital muscular dystrophy and slight mental retardation was scheduled for dental treatment under general anesthesia. General anesthesia was maintained with a continuous infusion of 6-12 mg/kg propofol per hour and an inhalational mixture of 0.5-1.5% sevoflurane in 67% nitrous oxide and 33% oxygen. No complications were observed during or after the operation. It is speculated that a continuous infusion of propofol in progressive muscular dystrophy does not cause malignant hyperthermia because serum levels of creatine phosphokinase and myoglobin decreased after our anesthetic management. Furthermore, our observations suggest that sevoflurane may have some advantages in patients with progressive type muscular dystrophies other than Duchenne muscular dystrophy and Becker muscular dystrophy. In conclusion, our cases suggest that a continuous infusion of propofol for the patients with progressive muscular dystrophy is a safe component of our anesthetic strategy.
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PMID:Continuous infusion propofol general anesthesia for dental treatment in patients with progressive muscular dystrophy. 1585 43

The so-called Dyke-Davidoff-Masson syndrome (DDMS) is a rare disorder of cerebral hemiatrophy. The clinical presentation may consist of facial asymmetry, contralateral atrophy (including the trunk, and the extremities) and hemiparesis, speech difficulties, mental retardation, and epilepsy. Because it involves multiple systems, especially problem of the airway, occult myopathy, and seizure disorder, anesthesia for such a patient is a challenge to any anesthesiologist. However, there are no clinical reports which concern the anesthetic management of such patients in the literature. We herein report a 5-year-old girl, a sufferer of DDMS, scheduled for burr trephination. The successful anesthetic management is brought forward with highlights of inference from the experience.
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PMID:Anesthetic approach to the Dyke-Davidoff-Masson syndrome--a case report. 1586 6

Kabuki make-up syndrome KMS is a rare condition with a number of characteristic congenital abnormalities. The syndrome is characterized by peculiar facial appearance resembling the make-up of actors in Kabuki, the traditional Japanese theater, skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. These are rare reports of central nervous system dysfunctions, other than mental retardation, and no previously described congenital talipes calcaneo-valgus in this syndrome. We report the case of a 22-month-old girl having Kabuki make-up. At presentation, she had an adenoid hypertrophy and a history of recurrent otitis media. She had also delay in motor development, and a postnatal growth deficiency. The variable phenotypic expression is a well-known characteristic of the syndrome. For that reason, we should perform careful morphologic examination in every patient and their parents, and use flexotype laryngoscope Heine, Germany to visualize vocal cord in case of difficult intubation. At preoperative examination, as clinicians, we must be careful regarding patient morphology. Congenital heart defects and epilepsy are important for anesthesia management in KMS.
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PMID:Anesthesia management in Kabuki make-up syndrome. 1638 Jul 86

Rubinstein-Taybi syndrome (RTS) is a human genetic disorder characterized by mental retardation and physical abnormalities including broad thumbs, big and broad toes, short stature, and craniofacial anomalies. The oral manifestations include small oral opening, pouting lower lip, retro/micrognathia. and higher arched, narrow palate. The purpose of this case report was to demonstrate the complicated dental treatment of a 12-year-old, developmentally disabled girl, living with a foster family, who suffered from RTS, extensive caries, and very poor oral hygiene. The patient demonstrated total lack of cooperation. The dental treatment had been carried out under general anesthesia (GA). Possible problems during GA in such patients are described. Fiberoptic video-assisted bronchoscope was prepared for the GA in case of airway emergency and/or difficult intubation. The GA process was uneventful, despite the extensive treatment delivered to the patient. Prospects for future good oral and dental status in this patient are questionable because of her extreme lack of cooperation.
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PMID:Dental treatment of a child with Rubinstein-Taybi syndrome. 1643 38

Tuberous sclerosis (Bourneville-Pringle disease) is a rare disease with a triad of mental retardation, epilepsy, and facial spot. Management of the patients with tuberous sclerosis under general anesthesia has been previously reported. However, there are few case reports about management under general anesthesia of a pediatric patient with tuberous sclerosis with frequent epileptic seizure. Here, we report a case of a pediatric patient with tuberous sclerosis and frequent epileptic seizure who underwent intensive dental treatment under general anesthesia with careful management of epilepsy. The patient was discharged on the day of surgery without any complications. In this case report, we discussed the appropriate assessment of the complications of tuberous sclerosis; such as, of central nervous, circulatory, respiratory, endocrine, and urinary systems including the management of general anesthesia.
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PMID:[A case of a pediatric patient with tuberous sclerosis (Bourneville-Pringle disease) and frequent epileptic seizure for intensive dental treatment under general anesthesia]. 1663 55

Tuberous sclerosis (TS) is a relatively rare, autosomal dominant syndrome that displays high genetic penetrance in affected families. It is identified by a classic triad of symptoms including epilepsy, skin lesions, and mental retardation. Tuberous sclerosis causes hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, lungs, and liver. Awareness of the signs and symptoms and the organs involved is critical to provide safe and effective anesthesia care. We describe a 10-year-old girl with TS scheduled to receive a general anesthetic for laser treatment of facial angiofibromas. The patient had several coexisting maladies from TS, including hypertension, autism, seizure disorder, cardiac rhabdomyomas, developmental delay, and bilateral polycystic renal disease. The laser procedure was performed, and there were no surgical or anesthetic complications. However, the potential for complications due to TS remained high throughout the provision of anesthesia care. Increased knowledge of TS and diligence in anesthesia practice can greatly reduce these risks.
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PMID:Anesthesia concerns for children with tuberous sclerosis. 1678 16


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