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)

Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since the two conditions appear to breed true they seem to be genetically different. We propose to name the former "Smith-McCort dwarfism" to clearly distinguish it from the DMC syndrome in which mental retardation is a constituent part. Both conditions are inherited as autosomal recessive traits. Spinal cord compression due to atlantoaxial instability is a serious and preventable complication of both disorders.
 ...
PMID:Heterogeneity of Dyggve-Melchior-Clausen dwarfism. 96 90

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.
 ...
PMID:Atlantoaxial instability in Dyggve-Melchior-Clausen syndrome. Case report and review of the literature. 1179 98

Down's syndrome (trisomy 21) is the most common chromosomal aberration and is one of the major reasons for mental retardation. Down's syndrome has manifestations in many systems. The syndrome has many neurological complications, which include structural changes, mental retardation, young-onset Alzheimer's disease, strokes and basal ganglia damage. Epileptic seizures are more prevalent in Down's syndrome patients than in the general population. Cervical spinal cord instability, which is common in Down's syndrome, can cause neurological complications resulting from cervical spinal cord compression. The aim of this article is to review the neurological complications of Down's syndrome in order to increase awareness and assist doctors in diagnosis and counseling the patients' families.
 ...
PMID:[Neurological complications in Down's Syndrome]. 1236 89

Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Accumulation of chondroitin sulfate B and heparan sulfate in various tissues is the biochemical consequence of MPS II. Children with Hunter disease are normal at birth, and symptoms occur between 2 and 10 years of age. Typical symptoms include coarse facies with enlarged tongue and prominent forehead as well as a short, stocky built stature with short neck. The cardiovascular, respiratory and gastrointestinal systems may be affected, and oral, dermatological and psychiatric as well as neurological complications are described. Life expectancy is markedly reduced and may be limited to 12 years for severely affected patients. The most common causes of death are airway obstruction and cardiac failure. The most severe symptoms may result from neurological symptoms or complications including hydrocephalus, spinal cord compression, cervical myelopathy, optic nerve compression, and hearing impairment. Patients may also develop carpal tunnel syndrome, sleep apnoea, seizures or mental retardation. This review describes characteristic neurological manifestations in MPS II and its underlying pathophysiology. In addition, an appraisal is given whether or not enzyme replacement therapy may be able to improve in particular the neurological symptoms of Hunter disease.
 ...
PMID:Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. 1861 89

Traumatic spinal subdural hematoma is rare and its mechanism remains unclear. This intervention describes a patient with mental retardation who was suffering from back pain and progressive weakness of the lower limbs following a traffic accident. Magnetic resonance imaging of the spine revealed a lumbar subdural lesion. Hematoma was identified in the spinal subdural space during an operation. The muscle power of both lower limbs recovered to normal after surgery. The isolated traumatic spinal subdural hematoma was not associated with intracranial subdural hemorrhage. A spinal subdural hematoma should be considered in the differential diagnosis of spinal cord compression, especially for patients who have sustained spinal trauma. Emergency surgical decompression is usually the optimal treatment for a spinal subdural hematoma with acute deterioration and severe neurological deficits.
 ...
PMID:Traumatic subdural hematoma in the lumbar spine. 2194 22