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

Dyggve-Melchior-Clausen (DMC) syndrome is a very rare disease. Only 58 cases have been reported in the literature. The syndrome is probably an autosomal recessive inherited disorder, one that is characterized by mental retardation, the short-spine type of dwarfism, and skeletal abnormalities, especially of the spine, hands, and pelvis. Atlantoaxial instability-induced spinal cord compression is a serious and preventable complication. The purpose of this report is to describe the first case of DMC syndrome in which anterior transarticular atlantoaxial screw fixation was used to treat atlantoaxial instability. The authors report on a 17-year-old man with DMC syndrome and concomitant severe atlantoaxial instability. Computerized tomography scanning and magnetic resonance angiography demonstrated an irregular course of the vertebral artery (VA) at C-2, which made a posterior fixation procedure impossible. Additionally, transoral fusion was impossible because the patient was unable to open his mouth sufficiently. Therefore, the patient underwent anterior transarticular screw fixation. Follow-up examination 36 weeks after surgery showed solid fusion without implant failure. In conclusion, treatment of atlantoaxial instability in DMC syndrome must be considered. Specific care must be taken to determine the course of the VA. If posterior and transoral fusion are impossible, anterior transarticular atlantoaxial screw fixation might be the only alternative.
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PMID:Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature. 1179 98

Atlantoaxial instability is a relatively common com- plication in children with Down syndrome. Atlantoaxial rotatory fixation (AARF) is a condition in which the atlantoaxial joint is fixed at the position of rotation deformity accompanied by pain. We report a 10-year-old girl with Down syndrome who developed AARF postoperatively. No symptoms had been present prior to surgery. During anesthesia induction and then surgery, her neck was maintained at rest However, there was intense body movement during extubation. On postoperative day 8, she experi- enced sudden onset of neck pain and neck exercise restrictions, and a neck sprain was thus diagnosed. The symptoms gradually improved with analgesic administration and rehabilitation, but complete recovery was not obtained. Therefore, on postoperative day 23, cervical radiography and computed tomography were performed. These imaging studies revealed AARF. She was given conservative treatment We conclude that preoperative evaluation and peri- operative protection of the cervical spine are important Considering the mental retardation characteristic of Down syndrome, it is essential to diagnose and treat AARF at the earliest possible stage based on careful observation.
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PMID:[Perioperative Management for Atlantoaxial Rotatory Fixation in a Child with Down Syndrome]. 3035 26