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)

Tuberous sclerosis (TS) is a multiple-system disease involving the brain, skin, kidneys, heart and other visceral organs. There were 18 children with TS at our clinic, and complete studies of these patients and their families were performed. Male to female ratio was 11:7. Age at diagnosis was from 1 month to 18 years. Seizures (infantile spasm, generalized and partial epilepsy), skin lesions and intracranial calcifications were the most common clinical manifestations. Mental retardation was closely correlated with seizure attacks. Neoplasms of the brain, retina, heart, lung and kidneys were all encountered. Hypopigmented macules, intracardiac tumors and infantile spasms were usually the first signs in younger ages and can give hints of early diagnosis of TS. In total, six patients had positive family histories and one of them had non-penetrating parents. Detailed family studies are mandatory prior to genetic counseling.
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PMID:Tuberous sclerosis in children. 818 84

Leg ulcers may be caused by many different diseases. Most frequently, they are due to vasculopathies, to a lesser extent to metabolic, neuropathic or hematologic diseases. Neoplasms, connective tissue diseases, infections, trauma, and panniculitis should also be included in the differential diagnosis. A 38-year-old Caucasian female patient with hereditary prolidase deficiency developed progressive and very painful leg ulcers. The ulcers first appeared in childhood and did not respond to various treatments. Additional features of prolidase deficiency included mental retardation, short stature, extensive dental caries, and multiple malar teleangiectases. Hereditary prolidase deficiency is a very rare autosomal recessive disease. It is caused by heterogeneous mutations of the prolidase gene and affects many aspects of protein metabolism. Ion exchange chromatography and high voltage electrophoresis of urine can prove the suspected diagnosis. So far, there is no efficient therapy for hereditary prolidase deficiency. All reported treatment attempts have ended in failure.
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PMID:[Hereditary prolidase deficiency. Contribution to differential therapy refractory leg ulcer diagnosis]. 1111 49

Tuberous sclerosis is an autosomal dominant condition commonly manifesting with seizures, mental retardation, cortical tubers and hamartomas. Neoplasms may occasionally arise in this setting with the majority of these tumors being subependymal giant cell astrocytomas (World Health Organization [WHO] grade I). Reports of high grade astrocytic neoplasms arising in patients with tuberous sclerosis are rare. We report a left fronto-parietal mass presenting in a 33-year-old woman with altered mental status and slurred speech. The tumor demonstrated areas of enhancement and was associated with mass effect on CT imaging. The tumor was marked by prominent cellularity, easily identifiable mitotic figures, vascular proliferative changes, necrosis and multinucleated giant cells. A Ki-67 labeling index of greater than 30% was noted. The findings were interpreted as being consistent with a glioblastoma (WHO grade IV). The limited literature on similar cases of malignant gliomas arising in the setting of tuberous sclerosis are reviewed. Few reports of similar tumors have been described in the literature. Presentation appears to depend on where the tumor is situated; locations have been variable in previous reports. For those cases in which survival data were included, the prognosis is poor.
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PMID:Glioblastoma in the setting of tuberous sclerosis. 2567 76