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)

Only three cases of W syndrome have been reported. These patients have a typical "pugilistic" face, incomplete oral cleft, absent upper incisors, mental retardation, spasticity, seizures, and acne scars. Two of them had additional skeletal anomalies. Here we report on three male patients with findings compatible with the W syndrome. We emphasize the importance of some constant findings and describe additional signs. Familial history supports X-linked dominant heredity, as postulated previously.
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PMID:W syndrome: report of three cases and review. 1059 87

The proximal albino deletions identify several functional regions on mouse Chromosome 7 critical for differentiation of mesoderm (mesd), development of the hypothalamus neuroendocrine lineage (nelg), and function of the liver (hsdr1). Using comparative mapping and genomic sequence analysis, we have identified four novel genes and Il16 in the mesd deletion interval. Two of the novel genes, mesdc1 and mesdc2, are located within the mesd critical region defined by BAC transgenic rescue. We have investigated the fetal role of genes located outside the mesd critical region using BAC transgenic complementation of the mesd early embryonic lethality. Using human radiation hybrid mapping and BAC contig construction, we have identified a conserved region of human chromosome 15 homologous to the mesd, nelg, and hsdr1 functional regions. Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including autosomal dominant nocturnal frontal lobe epilepsy (ENFL2; also known as ADNFLE), a syndrome of mental retardation, spasticity, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA).
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PMID:Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis. 1124 70

A 43-year-old woman with mental retardation, epilepsy, and urinary stone disease had a right renal tumor. Acne-like anthema around the nose and dental pits of the nine teeth were typical signs of tuberous sclerosis (TSC), and the biopsy finding of the facial anthema was consistant with TSC. The pathological diagnosis of laparoscopic nephrectomy was renal cell carcinoma in the hemorrhagic cyst. The TSC-related renal cell carcinoma tends to develop bilaterally in younger individuals compared with the sporadic RCC. This case is the 27th case of TSC-related RCC in Japan.
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PMID:[A case of renal cell carcinoma in tuberous sclerosis]. 1453 Dec 75

A 20-year-old woman presented with mental retardation and a history of stroke related to moyamoya disease at the age of 8 years. She had cognitive impairment which became more pronounced after the stroke. This patient's parents were first cousins and six close family relatives had strokes in their 60s or 70s. The patient's 16-year-old sister had learning disability, chronic muscle pain, and an ECG suggestive of previous hypoxemic heart injury. The two sisters had similar dysmorphic facial appearance including a prominent philtrum, bulbous nose, and severe acne. They both had increased subcutaneous tissue in their faces, whereas their bodies were slim. Both sisters were found to have elevated levels of rheumatoid factor, C-reactive protein, and erythrocyte sedimentation rate on repeat measurements. Partial autoimmunity screening in one of the patients was negative. Chromosome analysis and array comparative genomic hybridization analyses were also normal. Nerve conduction findings in the younger sister were consistent with distal, predominantly motor, demyelinating neuropathy localized to the lower extremities. We propose that these two sisters suffer from a new autosomal recessive syndrome. Carrier status for this condition may predispose to later onset stroke.
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PMID:Dysmorphic features, cognitive disability, chronic inflammation, and predisposition to vascular disease in two sisters: a new autosomal recessive disorder? 2196 21

Tuberous sclerosis complex (TSC) is a neurocutaneous multisystemic syndrome most commonly affecting the skin, the brain, the kidneys, the lungs and the eyes. The diagnosis is based on clinical characteristics; 90% of patients have skin lesions and seizures are the initial symptom in 80% of patients. Patients with STB often show a high incidence of neuropsychiatric symptoms, including mental retardation, autism and learning difficulties. Epilepsy and brain and renal tumors are treated with aggressive therapeutic and surgical approaches. We report the case of a 13-year old girl, presenting with a 1-year history of acne resistant to therapy. Clinical examination showed symmetric grouped red papules with smooth surface on the central face and the chin (A). The objective clinical examination also showed frontal fibrous plaques (A), achromic macules on the upper limbs and grayish tumors in the periungual folds of the toes (B). During a new interview, patient's mother reported that these lesions had their onset when the patient was 5 years old, manifesting as seizures at the age of 2 years and disappearing at the age of 6 years, with good psychomotor development. The girl had a history of consanguinity but she had no other family history. Based on these major criteria, the diagnosis of Tuberous sclerosis complex was made. The patient underwent MRI of the brain showing intensely enhanced multiple bilateral subependymal and intraventricular nodules as well as signal abnormalities in the subcortical white matter at the level of the frontal, parietal and temporal area and linear abnormalities in the subcortical white matter. Thoracoabdominopelvic CT scan showed liver and renal lesions suggesting angiomyolipomas. Ophthalmologic examination, electrocardiogram and cardiac ultrasound were normal. Vascular laser treatment of angiofibromas, annual clinical monitoring and paraclinical monitoring every 3 years were proposed to the patient.
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PMID:[Tuberous sclerosis complex: the role of patient's history and clinical examination]. 3005 Jun 11