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

Tuberous sclerosis is a rare disease in which hamartomas may be found in the brain, the retina, the skin and in other internal organs. The classic form of the disease showing mental retardation, epilepsy and adenoma sebaceum is easily recognised. Incomplete forms, however, can provide considerable diagnostic difficulties. Angiographically, appearances are found which cannot be differentiated with certainty from those of malignant tumours. Malignant tumours are very rare in this condition. Nephrectomy can be avoided if the diagnosis is made at an early stage. Two female patients are reported, in one of whom the diagnosis was made by renal angiography. Despite the presence of large tumours in both kidneys, these organs could be preserved by surgery. In the second patient there were also bilateral renal hamartomas, but surgery was not carried out. Both cases showed typical changes in the fingers and toes as well as intracerebral calcification, and in one the lungs were affected.
 ...
PMID:[The place of radiology in tuberous sclerosis (author's transl)]. 15 82

Tuberous sclerosis and Klippel-Trenaunay-Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately. A 41 year old woman presented with the classic features of tuberous sclerosis: adenoma sebaceum, mental retardation, and seizures. In addition, the diagnostic triad of KTW involved the left lower limb: cutaneous naevi, a vascular anomaly, and osteohypertrophy. Arteriography documented the presence of visceral tumours and an arteriovenous malformation of the leg. This is the first reported association of the fully-developed symptomatology of tuberous sclerosis and KTW in one person.
 ...
PMID:Tuberous sclerosis and Klippel-Trenaunay-Weber syndromes. Association of two complete phakomatoses in a single individual. 16 20

In 20 out of a series of 30 children with Bourneville's disease, the diagnosis was made from the association of epilepsy and multiple achromic spots, before the appearance of adenomas. A total of 27 of these 30 children had these spots, and their characteristics are reviewed, as well as the average age of onset and frequency of the other typical cutaneous signs noted in this group: sebaceous adenomas, Koenen's tumors, and leather-grained skin plaques. Severe epilepsy was a constant finding and was often resistant to treatment: West's syndrome (18 cases), and Lennox Gastaut's syndrome (16 cases). Severe mental deficiency was also an almost constant finding and was increased by behavioural disorders: 11 out of the 13 children aged more than 5 years. Other locations of the disease included more particularly the ocular (8 cases), skeletal (11 cases), and renal (1 case) regions. In 5 cases, the disease had been transmitted by a parent, but in 3 of these it had not been recognized.
 ...
PMID:[Bourneville's tuberose sclerosis in children (author's transl)]. 22 12

Concerning the clinical signs and symptoms, we noticed skin white macula in 87%, adenoma sebaceum in 53%, mental retardation in 75%, retinal phacoma in 54% and seizure in 92%. Numbers of nodules ranged from zero to 11, and showed no correlation with aging. Half of the cases showed slight ventricular dilatation, one quarter showed moderate dilatation and the remainder were normal. There was no definite correspondence between size of the ventricle and number of nodules. There were relatively many cases with normal mental state in the group with normal ventricles. In adult cases a large ventricle does not always mean poor prognosis in mental state. Almost all of the cases with cortical atrophy had mental retardation. In the group with moderate dilatation infantile spasms were the most frequent type of seizure. On the contrary, grand mal was most frequent in the normal group. As for the position of nodules there was no difference between the normal and dilated groups. Nodules were predominantly seen in the lateral aspect of the body, trigone of the lateral ventricle and adjacent to the foramen of Monro. Asymmetrical lateral ventricles were noticed in 18%. Incidence of laterality increased as dilatation proceeded. It was larger on the left side in 9 out of 11 cases. We have no reasonable explanation of this tendency. There was one case with a tumor which was verified by enhanced CT. There were five cases with brain anomalies.
 ...
PMID:Computed tomography in tuberous sclerosis--with special reference to relation between clinical manifestations and CT findings. 31 69

The authors studied 9 girls and 5 boys, with ages ranging from 9 months to 26 years, suffering from Bournevilles tuberous sclerosis, for an average period of 7 years. The various types of epileptic attacks and their progression were studied as well as the degree of mental retardation. Only two of the children had a normal IQ. The accepted value of computer tomography examinations in this disease is confirmed. Pathological examinations were conducted in two cases, one complete (autopsy) and one partially only (histological examination of a paraventricular tumor removed by operation).
 ...
PMID:[A study of 14 cases of Bourneville's tuberous sclerosis, including two pathological reports and seven cases investigated by computer tomography (author's transl)]. 53 86

The effects of a dietary manipulation on seizure frequency and activity level of a 3 1/2-year-old male with tuberous sclerosis, mental retardation, and uncontrolled seizures were assessed. Using a reversal design, the Feingold (K-P) diet was presented and withdrawn three times, while the medication regimen remained unaltered. Every application of the K-P diet resulted in substantial reductions in seizure frequency. During a 21-week follow-up, seizure frequency remained low despite the phasing out of one drug, and seizures were reportedly eliminated 1 year later. Brief objective measures of hyperactivity failed to show any effect due to the diet changes.
 ...
PMID:Effects of the Feingold diet on seizures and hyperactivity: a single-subject analysis. 54 79

Congenital hypomelanotic and hypermelanotic macules traced in three generations of a family suggested autosomal dominant inheritance. Some affected membbers also showed retarded growth and mental deficiency. Light microscopic findings of "splitdopa" preparations of lesional and normal skin were comparable, except that background staining of keratinocytes in dark macules was higher than in control skin. In light macules it was lower. Ultrastructurally, hypomelanotic skin showed small melanosomes (0.3 mu) that occurred in keratinocytes in melanosome complexes. Hypermelanotic skin revealed large melanosomes (0.6 mu) that were singly distributed in keratinocytes. Melanosome size in normal skin averaged 0.4 mu; distribution pattern was mixed. Melanin granules inside keratinocytes were fully melanized. Hyperpigmented, normal and hypopigmented skin of one person had histological features of black oriental and white skin. This clinical picture could well represent a new neurocutaneous syndrome different from tuberous sclerosis.
 ...
PMID:Hereditary congenital hypopigmented and hyperpigmented macules. 66 31

Tuberous sclerosis is characterized by epilepsy, mental retardation and adenoma sebaceum. Seizures and mental retardation were the presenting complaints in the nine cases presented here; however, a variety of clinical manifestations of the disease exist. Early diagnosis facilitates genetic counseling.
 ...
PMID:Tuberous sclerosis. Report of nine cases and a review. 71 85

Pathological type complications associated with 46 cases of neurofibromatosis in children under 12 are reported. It is noted that in 65.2% of the cases there are mental retardation, usually serious. More than 50% (24 cases) had some type of tumoration. All were benign with the exception of a suprarenal neuroblastoma that caused arterial hypertension and histological characteristics of malignancy. Fifteen tumors were located in the optica ways, one in the mediastinum, one in the abdomen, one in the paravertebral area, one which was a craneal plexiform tumor and four of the moluscum pendulum type on the eyelids or in neighbouring regions. Twelve children suffered from some type of seizures (Salaam's spasms, tonic-clonic, myoclonic, atonic and versive). Radiological abnormalities were very frequent in the simple X rays as well as in those in which contrast medium was used. In four cases malformations of the midline were observed, three of which were non-communicating cysts of the septum pellucidum, the other agenesis of the corpus callosum. Neurofibromatosis was further seen associated iwth Bourneville's syndrome, Morquio's syndrome, Batten's type of lipofuscinosis, facial or generalized hemihypertrophia and stenosis of the aqueduct. Heredity was dominant autosomic in 16 cases, the rest being due to possible recent mutations.
 ...
PMID:[Pathological complications in 46 cases of neurofibromatosis in children (author's transl)]. 82 74

Two patients with tuberous sclerosis but without mental retardation were dermabraded for adenoma sebaceum. The treatment was effective and cosmetically satisfying.
 ...
PMID:Dermabrasion for adenoma sebaceum. 99 47


1 2 3 4 5 6 7 8 9 10 Next >>