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)

Clinical and ultrastructural study of four cases of Coffin-Lowry syndrome (CLS), a heritable disorder with peculiar facies, stooped posture, vertebral changes, and mental retardation, is reported. Three of the four cases had myelopathy caused by calcification of the ligamenta flava in early adulthood. These patients demonstrated that CLS is a calcium pyrophosphate dihydrate crystal deposition disease, and it is postulated that a metabolic abnormality in collagen and in proteoglycans are responsible for some aspects of CLS.
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PMID:Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava. 173 5

A 36 year old patient known to suffer from the Laurence-Moon-Biedl-Bardet syndrome (LMBBS) developed spastic quadriparesis. The typical features of the syndrome, presented by this patient were polydactyly, obesity, hypogonadism, retinitis pigmentosa and relative mental retardation. Severe spinal cervical and lumbar canal stenosis imaged by plain X-rays and computerised tomography was found. Magnetic resonance imaging showed significant atrophy of the spinal cord, indicating that the cause of the quadriparesis was cervical myelopathy. The patient underwent laminoplasty with some improvement.
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PMID:Quadriparesis in the Laurence-Moon-Biedl-Bardet syndrome: case report. 188 35

Infection with the AIDS virus itself (HIV, HTLV-III, LAV, ARV) is associated with a full spectrum of neurological disorders. The application of diagnostic studies for HTLV-III infection has demonstrated that these neurologic disorders can be the first manifestation of AIDS or occur in the absence of AIDS. The most common conditions associated with HTLV-III infection alone are a subacute encephalopathy (AIDS dementia) and peripheral neuropathy; however, vacuolar myelopathy and both acute and chronic aseptic meningitis are also common. Congenital (or neonatal) transmission of the virus can result in a mental retardation syndrome of delayed onset. The AIDS virus is neurotropic as well as targeting T-helper lymphocytes. The virus has been readily identified in neural tissues and cerebrospinal fluid, including instances in which other central nervous system infections, such as toxoplasmosis, coexist. Hence, recognition of an appropriate syndrome, neurodiagnostic studies, and exclusion (or treatment) of other infections, as well as evidence for HTLV-III infection are required for diagnosis. The development of successful therapy will require agents which cross the blood-brain barrier.
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PMID:Neurology of AIDS virus infection: a clinical classification. 282 50

Four children with Down syndrome who had developed atlantoaxial dislocation and myelopathy underwent occipitocervical fusion with Luque loop rod instrumentation and decompressive laminectomy of C1. The postoperative results are presented and the indications discussed. This procedure provides many advantages in the surgical treatment of Down syndrome compared with the conventional procedures, because of the associated mental retardation that makes the postoperative management very complicated.
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PMID:Occipitocervical fusion by Luque loop rod instrumentation in Down syndrome. 756 51

A 49-year-old woman with Klippel-Trenaunay-Weber syndrome (KTW) is reported. She had characteristic features of KTW; cutaneous angiomas on her back, left knee and both plantae, varicosities on both legs, and hypertrophy of the left leg. In addition she had rare complications of KTW; asymmetric skull bone, hemicranial hypertrophy, kyphosoliosis, idiopathic hypoparathyroidism, and abnormal length of the dactyl. Her hemicranial hypertrophy was examined by CT scan, MRI and angiography. Her right hemicranial volume was enlarged and her left lateral ventricle was enlarged. The T2-weighted MRI imaging demonstrated high signal intensity beside the right lateral ventricle and in the right basal ganglia. Cerebrovascular anomalies were not revealed. She also had neurological manifestations of KTW that are rarely seen in adult cases; mental retardation, and myelopathy. The anti-HTLV-I antibodies in serum and cerebrospinal fluid were positive, so it was thought for her to have HTLV-I associated myelopathy (HAM). She was treated with peroral prednisolone and alpha-interferon (intramuscular), which improved her ability to walk. It is known that kyphosis sometimes makes the disorder of spinal cord. Although KTW is known to be associated with the spinal arteriovenous malformation, several examinations did not reveal the spinal vascular anomalies in this case. So we think the myelopathy of this case was caused mainly by the kyphoscoliosis and HAM.
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PMID:[A case of Klippel-Trenaunay-Weber syndrome--special reference to myelopathy]. 825 27

We studied 3 cases with myelopathy caused by cervical spinal canal stenosis (developmental), who had been suffering from walking difficulty followed by tetraplegia, clinically and pathologically. In all 3 cases, mental retardation and/or cerebral palsy was diagnosed. We hypothesized that the brain damage in the developmental stage might also cause developmental disturbance in the cervical spine. In all cases, pathological investigation showed decreased antero-posterior diameter and degeneration in the gray matter and in the lateral and posterior column in the involved cervical spinal cord. The findings, such as relative preservation of the anterior column and cyst formation in the gray matter, were thought to be in common with cervical spondylotic myelopathy or ossification of the occipital longitudinal ligament (OPLL) which had been reported before. In one case we found aberrant peripheral nerve bundles and peripheral type remyelination in the transverse spinal cord lesion. Compared to the pathological change in the OPLL, our cases showed more severe degenerative change in the spinal segments with a relatively preserved antero-posterior diameter of the spinal cord, which supports the theory that the dynamic factor plays a more important role than the static compression factor. We concluded that the aging process and/or dystonic neck movement added spondylotic change to the narrow canal, and excess movement of the neck and/or falls caused dynamic injury to the spinal cord and secondary circulatory disturbance further worsened spinal lesions. When elderly patients with cerebral palsy develop motor symptoms, we should consider cervical spinal stenosis as a possible cause.
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PMID:[Clinical and pathological study of myelopathy accompanied with cervical spinal canal stenosis--with special reference to complication of mental retardation or cerebral palsy]. 831 81

The prevalence of all neurological disorders in a Japanese town was calculated, with a result of 91.1 per 1,000 population. The prevalence of cerebrovascular disease was 28.8; myelopathy and/or radiculopathy caused by deformity of the spine or disc herniation, 23.9; neuralgia, 11.5; dementia, 10.4; peripheral nerve disturbance, 5.5; epilepsy, 4.4; Parkinson's disease, 2.0; mental retardation, 2.9; brain/spinal tumor, 1.4; headache, 10.8, and vertigo/dizziness, 4.4. The prevalence of headache and vertigo/dizziness was also calculated from the results of the questionnaires sent to inhabitants: headache, 79.6, and vertigo/dizziness, 60.8. Neurological disorders are common in Japan and likely to continue to increase.
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PMID:Prevalence of neurological disorders in a Japanese town. 881 3

Clean intermittent catheterization is a well-known procedure of urinary drainage for patients who are unable to empty the bladder sufficiently. However, some patients with bladder dysfunction and nocturnal polyuria fail to obtain the benefits of intermittent catheterization and have annoying symptoms of nocturnal incontinence and low-compliance bladder, which threaten both their quality of life and renal function. We report the usefulness of nocturnal urethral indwelling catheterization using a specially designed catheter to treat patients (three women) with lower urinary tract dysfunction and nocturnal polyuria. Case 1: A 45-year-old woman with mental retardation suffered from difficulty of micturition and residual urine. A nocturnal urethral indwelling catheter freed her from difficulty with micturition and residual urine. Case 2: A 28-year-old woman with spina bifida and neuropathic bladder dysfunction suffered from urinary incontinence and recurrent pyelonephritis. The recurrent pyelonephritis was prevented and bladder compliance was improved with use of the nocturnal urethral indwelling catheter. Case 3: A 66-year-old woman with cervical myelopathy and multiple episodes of cerebral infarction suffered from nocturnal urinary incontinence. She underwent clean intermittent catheterization by her husband. Use of the nocturnal urethral indwelling catheter solved the problem of her nocturnal incontinence and relieved her husband of her nocturnal care. Nocturnal urethral indwelling catheterization is useful for treatment of nocturnal incontinence and recovery of bladder compliance in patients with lower urinary tract dysfunction and nocturnal polyuria.
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PMID:[Usefulness of nocturnal urethral indwelling catheter for treating bladder dysfunction with nocturnal polyuria: case report of 3 women]. 1262 79

Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and mental retardation. RTS is accompanied by a variety of morbid complications, particularly of the skeleton. Based on the experience of five RTS patients with malformation of the craniovertebral junction, we draw attention to previously unrecognized life-threatening complications of RTS, including instability of C1-C2, os odontoideum, hypoplasia of the dens, and fusion of the cervical vertebrae. One patient developed severe cervical myelopathy. Malformation of the cervical spine may be a common syndromic constituent of RTS, to which special attention should be paid to prevent its neurologic sequelae.
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PMID:Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. 1583 59

We report on the case of a 36-year-old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysis revealed c.271dupA and c.482G > A mutations in the MMACHC gene. The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections, and mental illness. There was no significant past history of mental retardation, failure to thrive, or seizure disorder as reported in classic cases of cblC. Prior to the thrombotic incident, the patient experienced increased paresthesia in the lower extremities, myelopathy, and impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset cblC. Ten other reported late onset cases with similar presentations are also reviewed.
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PMID:Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. 1785 53


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