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)

The data emerging from our study are the following: the presence of an identifiable cause is important: complications like tuberous sclerosis or signs of marked cerebral damage represent an adverse risk factor for IE. The presence of epilepsy among relatives, evidence of pre- or perinatal cerebral damage, mental retardation, and early onset, long periods of uncontrolled seizures before starting an adequate therapy and frequency of seizures appear to be indicative of an adverse prognosis, since differences between the two groups of responsive or unresponsive patients are statistically significant. On the contrary, the occurrence of febrile convulsions in the past history does not seem to have an adverse prognosis. Temporal lobe epilepsy and IS bear the worst prognosis. ME, CPS, GTCS, SPS, LGS and PM have a progressively better outcome in responsiveness to AEDs. Concerning therapy in patients with IE, studies indicate the results of high dose monotherapy appear to be equal or better than with polypharmacy. Because of the gravity of the situation, trials with unconventional drugs have been performed, but it is too early to draw definite conclusions about the long-term usefulness of most of them. In conclusion, our data indicate that the appearance of an IE can be predicted utilizing the above mentioned criteria, considered either alone or in combination. The issue of IE remains undoubtedly an important one among the group of convulsive disorders. Further studies considering a greater number of patients and new therpeutic strategies are to be recommended.
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PMID:Intractable epilepsy: etiology, risk factors and treatment. 329 46

Tuberous sclerosis is a multisystem disorder characterized by changes primarily involving the skin, eye, and central nervous system. Although the disease often produces mental retardation and seizures, this is not universal, and some patients with tuberous sclerosis lead a relatively normal life.
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PMID:Tuberous sclerosis. 330 30

Tuberous sclerosis is a very infrequent hereditary disease, usually defined by the triad of epilepsy, mental retardation and adenoma sebaceum, although alterations in other organs can exist. Tuberous sclerosis in its association with pregnancy has seldom been described in the literature. One such case is reported here; that of a 24-yr-old woman whose pulmonary involvement constitutes its differentiating characteristic. We make special mention of the improvement of the respiratory function, without any modification of the renal function, in contrast with other previously published cases. She gave birth spontaneously by vaginal via. Finally, we underline the importance of prenatal diagnosis and genetic advice for these patients.
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PMID:Tuberous sclerosis and pregnancy; report of a case with renal and pulmonary involvement. 331 45

The authors report a case of a six-year-old boy with seizures, mental retardation and some classic features of tuberous sclerosis, i.e., cutaneous hypomelanotic macules, poliosis, cyst-like lesions of the right upper limb and cerebral calcifications. From birth he showed partial gigantism of the first two fingers of the right hand associated with an arteriovenous malformation of the ulnar artery and agenesis of the radial artery. The EEG and CT scan studies are also reported. The occurrence of two dysgenetic disorders in one patient as a manifestation of disturbed embryogenesis at a very early stage of development is discussed.
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PMID:Tuberous sclerosis associated with partial gigantism in a child. 340 55

Tuberous sclerosis (TS) is characterized by the triade of epilepsy, mental retardation, and adenoma sebaceum. Although the kidneys are affected in 40-80% of the patients uremia is a rare finding. We here describe a family with TS, where uremia was a major feature of the disease, causing the death of 2 family members and requiring active replacement therapy in a third person, who now 11 years after renal transplantation, has normal renal function.
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PMID:Uremia in a family with tuberous sclerosis. 358 29

A follow up of 14 cases of tuberous sclerosis is presented. Cutaneous signs, epileptic seizures and developmental disabilities were recorded over a period ranging between 2 and 25 years from the onset of symptoms. A correlation can be established between the time of appearance of epilepsy and the degree of mental retardation. Antiepileptic treatment does not seem to prevent developmental disability.
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PMID:[Bourneville's tuberous sclerosis: neurological manifestations and skin anomalies]. 360 8

Psychotic episodes and epilepsy can occur without mental retardation in tuberous sclerosis. The diagnosis may depend on elucidating the family history since physical signs may not be obvious. Establishing the diagnosis makes genetic counselling possible.
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PMID:Epilepsy and psychosis--ask the family. 365 10

Tuberous sclerosis is an inherited neurocutaneous disorder characterized by seizures, mental retardation, cutaneous lesions and visceral hamartomas. We describe a 17-year-old boy in whom polycystic kidneys of the adult type were fortuitously detected on routine check-up. The patient enjoyed good health and had no evidence of renal dysfunction. Closer scrutiny of his past history and his physical and laboratory findings disclosed that he had tuberous sclerosis. Our case adds to the scant reported experience with the association of tuberous sclerosis and adult-type polycystic kidneys, and suggests that a search of additional manifestations of tuberous sclerosis is warranted in children in whom adult-type polycystic renal disease is detected.
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PMID:Polycystic kidneys as the presenting feature of tuberous sclerosis. 366 30

It is well known that intraventricular tumors are occasionally seen in patients with tuberous sclerosis. We have experienced two cases of tuberous sclerosis with intraventricular tumor. Case 1: an 8-year-old girl was admitted to our clinic because of headache and vomiting of one month's duration. She had adenoma sebaceum, mental retardation and seizures clinically, and a large tumor was found in the right lateral ventricle by pneumoventriculography. Partial removal of the tumor was performed by the right frontal transcortical approach, but she later died of pneumonia. Necropsy revealed hamartomatous disease characterized by multiple focal tumor-like malformations in various organs including the brain, kidneys, heart, lungs and liver. The histological diagnosis of the intraventricular tumor was subependymal giant cell astrocytoma. Case 2: a 6-year-old boy was admitted to our clinic because of headache of one year's duration. He had also suffered from seizures since 6 months of age. Adenoma sebaceum was noted in the cheeks. CT revealed a medium sized tumor at the right foramen of Monro and the moderately dilated right lateral ventricle and several calcified deposits in the lateral ventricle wall. The tumor was subtotally removed by the right frontal transcortical approach. The pathological examination showed subependymal giant cell astrocytoma. Now 6 years after the operation he is enjoying a normal school life. In our cases, intraventricular tumors associated with tuberous sclerosis were of a typically benign histological appearance, that is subependymal giant cell astrocytoma.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Tuberous sclerosis with intraventricular tumor: report of 2 cases]. 380 99

Tuberous sclerosis (TS) is a dominantly inherited disorder characterized by seizures, developmental delay, and specific skin lesions. Hypopigmented maculae that occur in 80% of patients with TS have become important for the clinical diagnosis of TS in young children. These lesions are claimed to be present from birth, in contrast with other dermatologic manifestations of TS that usually appear much later. We studied seven children in whom hypopigmented maculae appeared months to years after repeated negative skin examinations. Our findings emphasized that the absence of hypopigmented maculae in young children does not preclude their later appearance nor rule out the diagnosis of TS. The need for repeated skin examinations in infants and children with suspected TS or with seizures and/or mental retardation of unknown cause is apparent.
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PMID:The late appearance of hypopigmented maculae in tuberous sclerosis. 397 32


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