Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This patients is a 48-day-old girl, born as the third child from a 29-year-old healthy mother. The pregnancy was uneventful, and the delivery was normal. Right after birth, she had episode of asphyxia for several minutes. Her weight of birth was 2,600 g, and the head circumference was 30.4 cm. Dyspnea and cyanosis after feeding were noted on the second day. At the time of admission to our service, she showed typical symptoms of "cri-du-chat" syndrome, namely, characteristic cry, mental retardation (DQ was 48), microcephaly (head circumference was 34.5 cm), rounded face, hypertelorism, oblique palpebral fissures, epicanthus, low-set ears, micrognathia, short neck, simian crease. Other abnormalities such as umbilical hernia, prolapsus ani, dislocation of the hip joint, and lumbosacral meningomyelocele. Cerebral angiogram demonstrated no pathological findings. Pneumoencephalogram showed accumulation of air at the cranial base. Operation was performed for repair of meningomyelocele at the age of 50 days. Postoperative course was smooth.
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PMID:[A case of "cri-du-chat" syndrome with meningomyelocele (author's transl)]. 742 65

First, we longitudinally analyzed 177 cerebral-palsied children (CP) who were born in Kyoto City between 1977 and 1985. They were all visited St. Joseph Hospital for Crippled Children in Kyoto during the period 1977 to 1991 in order to investigate the relationship between the prognosis of perinatal care and the changing panorama of CP in Kyoto. The average occurrence rate of CP per 1,000 live birth during the 9 years in Kyoto was 1.12. 177 CP were divided into 3 groups according to their birth years: 1977-1979 (47 CP); 1980-1982 (62 CP); and 1983-1985 (68 CP). Then we compared the distribution of birthweights and gestational periods among the 3 groups. We found a significant increasing trend in the percentage of CP in babies with birthweight less than 2,000 g. Second, we examined 162 CP; 15 born outside of Kyoto were excluded because of extraneous influences of perinatal care. 162 were divided into 3 groups according to their birth years: 1977-1979 (44); 1980-1982 (56); and 1983-1985 (62). We also compared the risk factors and prognosis according to the birthweights and gestational ages among the 3 groups. This study revealed a decreasing trend in the frequency of convulsions of full term CP, dyspnea and oxygen administration of premature CP in the neonatal period. At the same time, the motor development of CP without mental retardation had improved significantly in the later period. However, in the last 3 years the distribution of the severity of motor disturbance at 4 years of age among CP with birthweight of 1,000-2,000 g was either mild or severe.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A study of children with cerebral palsy who were born between 1977 and 1985 in Kyoto City; a report from an institution for handicapped children]. 780 81

Congenital methemoglobinemia is a relatively rare clinical disorder characterized by life-long cyanosis, caused by either an inherited mutant hemoglobin (Hb-M) or deficiency of physiologically active NADH-dependent methemoglobin reductase (NADH-MR). NADH-MR deficiency leads to two different types of recessive congenital methemoglobinemia. In type I, cyanosis is the only major symptom and NADH-MR deficiency is restricted only to the red blood cells. In type II, cyanosis is associated with severe mental retardation and neurological impairment. The objective of this study is to establish the cause of cyanosis in our cases of congenital methaemoglobinemia. Erythrocyte NADH-MR activity was assayed spectrophotometrically. Spectral analysis of the hemolysate treated with potassium ferricyanide was recorded between 400-700 nm and Hb electrophoresis on starch gel at pH 7.0 was done to rule out the presence of Hb-M. NADH-MR deficiency was detected in 3 families. There was a history of consanguinity in one of these cases. The three propositi presented with breathlessness, fever and peripheral cyanosis. There was no history of cardiac illness or exposure to drugs and chemicals. There were no signs and symptoms of mental retardation. The presence of Hb-M was ruled out. Hb-A2, Hb-F, G6PD activity and reduced glutathione levels were normal. NADH-MR activity in all the cases ranged from 4.1 to 9.2 IU/g Hb (normal range 7.0-24.0 IU/g Hb). We describe NADH-MR deficiency in three unrelated cases (age 4 months to 6 years) where the activity of the enzyme was 30-40% of normal. These three cases of congenital methemoglobinemia are due to type-I NADH-MR deficiency without mental retardation.
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PMID:Congenital methemoglobinemia due to NADH-methemoglobin reductase deficiency in three Indian families. 1280 31

A 28-year-old man presented with mental retardation, peculiar facial features, radioulnar synostosis, hypogonadism, aplasia of the right kidney, a moderate degree of proteinuria, and peripheral cyanosis. The activated partial thromboplastin time was shortened, and the level of plasma factor VIII was high. A chromosomal analysis revealed a 49, XXXXY karyotype. From the 10th hospital day, he suffered from sudden dyspnea following swelling of the left leg. He was diagnosed as having deep vein thrombosis and pulmonary embolism, and was successfully treated with anticoagulant therapy. This is the first case of the 49, XXXXY syndrome complicated with unilateral renal aplasia, proteinuria, and venous thromboembolism.
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PMID:49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. 1564 56

A 6-year-old boy with multiple severe disabilities was admitted with acute and progressive dyspnoea. A new percutaneous endoscopic gastrostomy (PEG) catheter had been placed 2 weeks earlier, during which the old catheter was cut and left in the stomach. Radiological assessment revealed pneumonia and a traumatic fistula between the oesophagus and the left main bronchus. Respiratory support was required. The patient recovered after oesophagoscopic removal of the remaining portion of the PEG catheter. A 7-year-old boy with multiple severe disabilities presented with an acutely reduced level of consciousness, vomiting and progressive dyspnoea. Chest x-ray revealed signs of aspiration pneumonia and, after respiratory problems worsened, a foreign object in the oesophagus. The foreign object was likely the remaining portion of a PEG catheter that was removed 12 months earlier. The patient was discharged in good condition a few days after oesophagoscopic removal of the remaining catheter. PEG is a commonly used method for enteral feeding in children. The Dutch guideline on enteral feeding in children indicates that endoscopic removal of the PEG catheter is often necessary. In daily practice, however, endoscopic removal is not always performed. To avoid serious complications, authors recommend endoscopic removal ofthe silicon disk when replacing or removing a PEG catheter in children aged less than 6 years and all children with mental retardation, prior laparotomy or constipation. Endoscopic removal of the disk should be considered in all other children if the disk is not passed in stool within 2 weeks and an x-ray shows that the disk is in the oesophagus, stomach or proximal intestine.
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PMID:[Two children with severe complications following incomplete removal of a percutaneous endoscopic gastrostomy (PEG) catheter]. 1740 54

A 15-year-old girl had exertion dyspnea, focal nodular hyperplasia of the liver, portal vein hypoplasia, portopulmonary hypertension, mental retardation, and minor facial abnormalities. Cytogenetic analysis demonstrated an abnormal chromosome 8 with 8p22-pter duplication and 8q24.3-qter deletion, with the duplicated 8p segment attached to band 8q24.3. Her mother had a pericentric inversion of chromosome 8, inv(8)(p22q24.3). Therefore, the girl's abnormal chromosome 8 was a recombinant of maternal inversion chromosome: 46,XX,rec(8)dup(8p)inv(8)(p22q24.3)mat. Further characterization of the recombinant chromosome, using array CGH and regional FISH analyses, defined 15 Mb distal 8p duplication and 0.5 Mb 8q deletion. Possible correlation of the recombinant chromosome and hepatic focal nodular hyperplasia in the patient is discussed.
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PMID:dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia. 1750 94

Lymphangioleiomyomatosis (LAM) is a rare disease, of unknown etiology, affecting women almost exclusively. Microscopically, LAM consists of a diffuse proliferation of smooth muscle cells. LAM can occur without evidence of other disease (sporadic LAM) or in conjunction with tuberous sclerosis complex (TSC). TSC is an autosomal dominant tumor suppressor gene syndrome characterized by seizures, mental retardation, and tumors in the brain, heart, skin, and kidney. LAM commonly presents with progressive breathlessness or with recurrent pneumothorax, chylothorax, or sudden abdominal hemorrhage. Computed tomography (CT) scans show numerous thin-walled cysts throughout the lungs, abdominal angiomyolipomas, and lymphangioleiomyomas. No effective treatment currently exists for this progressive disorder. The prevalence of lymphangioleiomyomatosis is probably underestimated based on its clinical latency and the absence of specific laboratory tests. With the utilization of international LAM data registries the "classical" picture of the disorder appears to be evolving as a larger number of patients are evaluated. An increased awareness of LAM and its common clinical presentation may advance the development of new therapeutic strategies and reduce the number of mistakenly diagnosed patients.
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PMID:Lymphangioleiomyomatosis: A review. 1923 77

Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by seizures, mental retardation, and various hamartomatous lesions, including renal angiomyolipoma (AML) and pulmonary lymphangioleiomyomatosis. A 22-year-old woman with TSC presented with multiple renal AMLs exceeding 4 cm in diameter. She underwent two transcatheter embolization procedures with a mixture of ethanol and iodized oil. She complained of dyspnea and minor hemoptysis 4 and 6 hours after the procedure. Findings on chest radiographs and computed tomographic images were indicative of pulmonary edema. The patient was treated with conservative therapy. The possible causes of the pulmonary edema are discussed in the text.
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PMID:Pulmonary edema as a complication of transcatheter embolization of renal angiomyolipoma in a patient with pulmonary lymphangioleiomyomatosis due to tuberous sclerosis complex. 1946 8

Background. Noncompaction/hypertrabeculation left ventricle (NCM/HVM) is most commonly reported in one or more segments of left ventricle and sometimes both ventricles. In this case, we present noncompaction of all segments of right and left ventricle, in a young man with mental retardation. Case Presentation. A 19-year-old male was referred to us with sudden dyspnea at rest and chest discomfort. He was a known case of mental retardation. He was born full term with birth weight = 1250 grams. On physical examination. A systolic murmur (II/VI) at left sternal border was heard. ECG showed increased voltage in precordial lead and deep ST segment depression. Chest X-ray (CXR) was within normal limits. Transthoracic echocardiography showed situs solitus, D loop, normal connection of great vessels, noncompaction LV at all segments (noncompaction/compaction = 2.5/0.5) with moderate systolic dysfunction (LVEF = 40%), diastolic dysfunction grade II, normal RV size with mild systolic dysfunction and hypertrabeculation, mild tricuspid regurgitation (TR), and normal pulmonary artery systolic pressure. After injection of agitated saline some bubbles were passed from right to left through patent foramen oval (PFO). Conclusions. Extensive sinusoid formation and trabeculation of RV and nearby all LV segments and its association with mental retardation suggest presence of strong genetic background.
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PMID:A case of noncompaction at all segments of both right and left ventricles. 2552 24

Bardet-Biedl syndrome (BBS) is a rare congenital ciliopathy characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism and renal dysfunction. A 45-year-old Indian man presented with New York Heart Association class 2 dyspnoea of 3 months duration. He was blind since childhood. He was obese, cyanosed, and had clubbing and polydactyly. Systemic examination revealed presence of wide and fixed split second heart sound with systolic murmur in the left parasternal area. Work up unmasked the presence of secondary polycythaemia, atypical retinitis pigmentosa and partial atrioventricular defect. He was diagnosed to have BBS based on clinical and radiological features. This case is interesting for its rarity and also for the peculiarity of its cardiovascular association. Polydactyly with a suspicious clinical background is the clue and by itself warrants the clinician to search for occult anomalies. Clinicians must be aware of this syndrome, for which an early diagnosis and a multidisciplinary approach will significantly improve mortality and morbidity in patients.
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PMID:Bardet-Biedl syndrome: multiple fingers with multiple defects! 2661 81


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