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)

Somatic, psychomotor, and intellectual development were studied in 11 patients who had total correction of congenital cardiac malformation in early infancy by the method of surface-induced deep hypothermia and circulatory arrest up to 43 minutes. Time between operation and re-evaluation ranged from 3 to 11 years (average 7 years). Somatic development was normal in all children. Psychomotor and intellectual behavior, measured by a battery of specially adapted test methods, failed to show a statistically significant difference when compared between the study group, a matched control group, and the normal population. Normal scores in psychomotor tests and normal intelligence quotients (I.Q.) were present in 8 patients; mental retardation was found in 2 patients: and unstable behavior, evident from different tests, was present in one. Except for the last case, in none of the patients was the method was found to be the primary cause of the abnormal behavior. Deep hypothermia and circulatory arrest in early infancy does not appear to have a negative influence on somatic, psychomotor, or intellectual development.
J Thorac Cardiovasc Surg 1976 Oct
PMID:Psychomotor and intellectual development after deep hypothermia and circulatory arrest in early infancy. 96 81

Tuberous sclerosis (TS) is a rare disease of the nervous system, being characterized by seizures, mental retardation and adenoma sebaceum. Concomitant pleuropulmonary lesions and spontaneous pneumothorax are extremely rare during the evolution of this disease. To date, only 19 cases of TS and spontaneous pneumothorax have been described in the literature. Here we present a case of TS and associated pleuropulmonary lesions with spontaneous pneumothorax in a 29-year-old female patient. Clinical, roentgenographic and histological aspects of this disease are commented upon.
Thorac Cardiovasc Surg 1983 Aug
PMID:Tuberous sclerosis and associated pleuropulmonary lesions. 619 62

Homocystinuria (HC) is an inborn error of amino acid metabolism characterized by ectopia lentis, mental retardation, and skeletal abnormalities. Vascular disorders may also occur in HC, although they are less common. Arteriographic studies of two sisters with HC are described. The younger woman's renal arteries showed wall irregularities and aneurysms, narrowing of the celiac and superior mesenteric arteries, and some aneurysmatic changes. In the older patient, irregular right carotid and splenic arteries were seen and a splenic aneurysm was present.
Cardiovasc Intervent Radiol 1983
PMID:Angiographic findings in homocystinuria. 662 57

Tuberous sclerosis is a rare hereditary anomaly of variable penetrance characterized by adenoma sebaceum, mental retardation, and epilepsy. Pulmonary disease with spontaneous pneumothorax is a rare complication with this disease. We have recently seen two patients with this complication. A review of the literature reveals 17 other patients with spontaneous pneumothorax and tuberous sclerosis. Eight of these died of pneumothorax. Fifty-three percent of the patients, including all those who died, had normal intelligence. The pathological and roentgenographic findings of the disease are discussed. Recommendations for therapeutic management are given.
J Thorac Cardiovasc Surg 1982 Jan
PMID:Spontaneous pneumothorax associated with tuberous sclerosis. 705 3

To settle long-term outcome after surgery for supravalvular aortic stenosis in the Williams-Beuren syndrome, we reviewed the records of 6 patients who had repair of the localized form (n = 5) or diffuse form (n = 1) at our Institution from 1965 to 1971. Four patients were females and 2 males, ages at operation ranged from 9 to 16 years (mean = 13 +/- 2.37 years). In all the patients was present the typical elfin facies with mental retardation and reduced I.Q. Preoperative omeral pressure was different between left and right arm (89 +/- 7/67 +/- 8 vs 105 +/- 8/77 +/- 4). Chest X-ray showed and enlargement of the cardia silhouette in all the patients. Cardiac catheterization, performed in all the patients, allowed diagnosis of supravalvular aortic stenosis and, in one case of subaortic stenosis associated. Intraoperatively a coronary tree enlargement was found in all cases with particular involvement of the right coronary in two patients. The mean diameter of the ascending aorta was 5.67 +/- 1.97 mm but the smallest (3 mm) was in the diffuse group. In group with localized stenosis the aortic root was enlarged with a teardrop patch in Dacron (n = 4) or a simple transverse suture after a longitudinal incision (n = 1). A pantaloon-shaped patch was necessary in the diffuse form case. There were no operative deaths and all the patients were discharged from the hospital after 2 weeks. A clinical follow-up was possible in all the patients (10%) extended from 25 to 30 years (mean = 27.7 +/- 2.19 years); there were no late deaths and at presents time the mean age of the patient is 40 +/- 3 years. All patients were in functional class I or II. There was no significant difference between patients with a teardrop-shaped or pantaloon-shaped patch in terms of late gradient, survival, or aortic insufficiency studied by Echocardiography and color-Doppler. Of six patients two are living with parents or relatives but four are in a farm-college for disable people working and having some responsibility. We conclude that surgery for the correction of supravalvular aortic stenosis in Williams-Beuren syndrome is mandatory and both the procedures with patch techniques provide excellent long-term results of gradients and aortic valve competence. Moreover the patients after the operation can have a normal activity with a satisfactory style and expectation of life.
J Cardiovasc Surg (Torino) 1997 Apr
PMID:Williams-Beuren syndrome. Long-term results of surgical treatments in six patients. 920 Nov 21

Gastrobronchial fistulous communications are uncommon complications of disease processes with only 36 previously reported cases. Described as complication of a number of conditions, such as previous gastroesophageal surgery, subphrenic abscess, and gastric ulcers (Jha P, Deiraniya A, Keeling-Robert C, et al. Gastrobronchial fistula--a recent series. Interact Cardiovasc Thorac Sur 2003;2:6-8), we report a case of fistulization caused by ingestion of a foreign body. A patient with mental retardation, admitted for the treatment of osteomyelitis, presented during hospitalization symptoms of high fever, vomiting, and respiratory distress. Endoscopy showed the presence of a gastrobronchial fistula, which developed after ingestion of a toothbrush. The toothbrush was extracted endoscopically, and the fistula was subsequently closed by surgery. The patient recovered completely. We report the first case of a gastrobronchial fistula as a complication of foreign body ingestion.
 ...
PMID:Gastrobronchial fistula after toothbrush ingestion. 1770 23

Children with neurological disorders may suffer from gastroesophageal reflux disease (GERD). Typical symptoms are vomiting, regurgitation and hematemesis. Patients present with respiratory symptoms only in cases with swallowing disorders causing chronic airway aspiration. We report the case of a patient affected by chromosome 8 p deletion syndrome with mental retardation, referred to our unit for suspected GERD. Chest X-ray, performed at admission for coexisting respiratory complaints, showed left lower lobe pneumonia; esophageal pH monitoring and upper endoscopy were normal for GERD. To rule out chronic airway aspiration, gastroesophageal 99 mTc scintigraphy with lung scan 18 to 24 h after a test meal and video fluoroscopy swallowing study were performed, both negative. Two months later, a second episode of left lower lobe pneumonia occurred. A chest CT scan was performed and showed an endobronchial mass; the biopsy taken during the broncoscopy was not conclusive. Surgical excision resulted in a diagnosis of pulmonary carcinoid. Bronchial carcinoids, although rare, should be taken into consideration as a potential cause of recurrent pneumonia even in the presence of demonstrated GERD where severe respiratory infections only occur with coexisting chronic pulmonary aspiration, even in neurologically impaired people.
Thorac Cardiovasc Surg 2011 Apr
PMID:Association between gastroesophageal reflux and endobronchial carcinoid: a case report. 2148 Jan 46

Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia. An 18-year-old man with morphologic features characteristic of Coffin-Lowry syndrome was referred to our institution for valve disease surgery for worsening cardiac failure. Echocardiography showed severe mitral valve regurgitation associated with tricuspid valve regurgitation. Mitral valve implantation with a biological valve and tricuspid annular plication with a ring was performed. The ascending aorta was hypoplastic. Both the mitral papillary muscle originating near the mitral annulus and the chordae were shortened. The patient's postoperative course was uneventful and his cardiac failure improved.
Gen Thorac Cardiovasc Surg 2015 May
PMID:Mitral and tricuspid valve surgery for Coffin-Lowry syndrome. 2387 16

A 19-year-old man with Down syndrome had congenital mitral regurgitation. He had slight mental retardation and difficulty in performing independent oral drug administration. We planned mitral valve plasty to avoid postoperative anticoagulant therapy. The mitral valve lesions were complicated. A prolapsed anterior mitral leaflet, shortened posterior leaflet, abnormal cleft, abnormal papillary muscle, and enlarged annulus were observed. Successful mitral valve plasty was performed using several techniques. The postoperative course was uneventful, and no significant mitral regurgitation was found.
Asian Cardiovasc Thorac Ann 2018 Feb
PMID:Congenital mitral regurgitation with Down syndrome. 2935 88

Trisomy of the short arm of chromosome 12 is a rare genetic disease characterised by dysmorphic features, mental retardation, behavioural disorders, seizures predisposition and other congenital abnormalities. Arterial hypertension is not a characteristic feature of 12p trisomy, although congenital heart defects are reported. In this case report, we present a young patient with incomplete trisomy 12p, analysing some characteristics of this disease that have not been previously described in literature.
High Blood Press Cardiovasc Prev 2019 Apr
PMID:Trisomy of the Short Arm of Chromosome 12 Associated with High Cardiovascular Risk: A Case Report. 3080 48


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