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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe two cases of unusual presentation of tuberous sclerosis with cystic renal involvement. A 19-month-old white male who was initially misdiagnosed as having polycystic kidney disease of "adult-type" developed petit mal seizures and small "ash-leaf" depigmented areas, raising a suspicion of tuberous sclerosis. Computerized tomography (CT) of the brain revealed periventricular calcifications, confirming the diagnosis of tuberous sclerosis. A 15 3/4-year-old black female with tuberous sclerosis showed acceleration of renal failure. Computerized tomography scan of the abdomen showed cystic lesions of the kidneys. In young children with cystic renal involvement but a negative family history of tuberous sclerosis or polycystic kidney disease, a CT scan of the brain should assist in the diagnosis. A CT scan or ultrasound examination of the abdomen will differentiate cystic renal lesions from angiomyolipoma of the kidneys.
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PMID:Cystic renal involvement in tuberous sclerosis. 388 Jun 84

We report a girl with tuberous sclerosis. Diagnostic criteria when she was 6 years included mental retardation, seizures and characteristic skin lesions. Disease was revealed in the first 4 months of life by marked abdominal distension due to polycystic kidney disease. This case is strikingly similar to those recently published in the pediatric literature. The similarity is further increased by histological data concerning changes in the epithelium of the cyst, that seem to be specific; the early recognition of these changes should lead to a diagnosis of tuberous sclerous sclerosis in the first months of life.
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PMID:[Tuberous sclerosis presenting early in life as a polycystic kidney disease (author's transl)]. 706 19

A characteristic cystic renal lesion is described in three infants with tuberous sclerosis. Large cystic kidneys were present at birth in one child. The other two patients were discovered to have cystic kidneys and hypertension at 3 months of age. Development delay and seizures were ultimately present in two infants; typical cutaneous lesions of tuberous sclerosis developed in only one child. The roentgenographic appearance of the kidneys in the two older children was similar to that of adult-type polycystic kidney disease. Cysts were lined by a distinctive, hyperplastic epithelium in each patient. The diagnosis of tuberous sclerosis may be determined by renal biopsy in infants presenting with cystic kidneys.
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PMID:The cystic renal lesion in tuberous sclerosis. 742 Feb 20

Renal angiomyolipoma is common in the tuberous sclerosis complex (TSC), the classic features of which are facial angiofibroma, seizures, and mental retardation. We report a family with three affected members demonstrating the wide spectrum of TSC-associated lesions ranging from asymptomatic findings to life-threatening complications. The predominant symptoms of the index patient were hypertension and mild renal insufficiency at age 48, resulting in end-stage renal failure at age 63 due to giant bilateral angiomyolipoma of the kidneys. The two TSC-affected siblings had died years previously, one from pulmonary lymphangioleiomyomatosis and the other during an epileptic state; the latter had situs inversus totalis as another remarkable finding. The diagnosis of TSC may be overlooked if CNS symptoms are absent and if cutaneous lesions are masked by cosmetic procedures, as occurred in the index case. Chronic renal failure due to angiomyolipoma is not widely known to clinical nephrologists, but develops in approximately 15% of TSC patients. Displacement of functional renal parenchyma by abnormal tissue appears to be the major pathogenetic mechanism leading to end-stage renal failure. Angiomyolipomas can be diagnosed from this characteristic sonographic pattern and the demonstration of fatty tissue in CT or MRI. Multiple renal cysts are also common in TSC. Therefore TSC should be considered in the differential diagnosis of polycystic kidney disease.
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PMID:Tuberous sclerosis complex with end-stage renal failure. 779 29

Renal cysts are relatively common in tuberous sclerosis, occasionally causing severe cystic disease with renal failure. Although the imaging features and gross appearances resemble dominant polycystic kidney disease, the histopathological appearances are distinctive, perhaps unique, differing from appearances in other forms of renal cystic disease. The cysts are lined with hypertrophic and hyperplastic cells that probably cause the cysts by obstructing lumina. The renal abnormality may be inherent in tuberous sclerosis, although inconstantly expressed. Renal enlargement is sometimes the first recognized expression of tuberous sclerosis, and the occurrence of renal cysts in a child with seizures and developmental retardation leads to a strong suspicion of the diagnosis.
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PMID:Renal cystic disease in the tuberous sclerosis complex. 839 65

Neurological complications and other causes of morbidity were studied in 122 of 131 individuals (64 males, 67 females) with tuberous sclerosis, in a popululation in which its prevalence was 1/26,500. Seizures occurred in 78 per cent, beginning at less that one year of age in 69 per cent (in more males than females in both cases) and after age 16 in 4 per cent. More males than females also had infantile spasms and persistent seizures. Learning disorder occured in 53 per cent (also in more males), all with a history of seizures, and was strongly correlated with age at onset of seizures, type of seizure and outcome for seizure control. Of subjects with learning disorder, 85 per cent required supervision for daily living and 65 per cent had little or no language; 97 per cent were fully mobile. Hemiparesis had occurred in eight of the 131, giant cell astrocytomas in nine bilateral polycystic kidney disease in two, and haemorrhagic complication relating to renal angiomyolipomas in six.
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PMID:Morbidity associated with tuberous sclerosis: a population study. 867 17

We measured the changes of forearm flexor H reflexes produced by conditioning radial nerve stimulation at delays of -2, 0, 2, 4, 7.5, 10, 25 and 75 ms in 10 patients with PKD and six with generalized seizure disorder. We compared the results with 12 normal volunteers. In the patients with PKD, we compared the amounts of reciprocal inhibition between the severely and the asymptomatic or mildly affected sides of arms. Follow-up studies were done in eight PKD patients after they responded to the anticonvulsant treatment. At each delay, patients with seizure disorders showed comparable amounts of changes with controls. Patients with PKD showed paradoxical facilitation at a delay of 0 ms, enhanced facilitation between 2 to 7.5 ms delays and attenuated inhibition at a delay of 75 ms. There were no significant differences in the amount of reciprocal inhibition according to the severity of clinical symptoms. Follow-up studies showed no significant changes of reciprocal inhibition compared to the baseline data. In PKD, paradoxical facilitation and enhanced first relative facilitation period may be caused by defective spinal interneurons. In addition to the defective reciprocal inhibition, abnormalities of supraspinal inputs seem to be involved in the genesis of PKD.
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PMID:Reciprocal inhibition between the forearm muscles in patients with paroxysmal kinesigenic dyskinesia. 1050 Feb 75

This study is to determine the incidence of visceral organ involvement in tuberous sclerosis (TS). We reviewed 30 cases of TS diagnosed between 1987 to 1997. There were 17 males and 13 females, ages ranged from one day old to 17 years old. Among the 30 cases, 25 patients had seizures and skin manifestations; 24 had cerebral tubercles; 10 had heart involvement (9 rhabdomyoma, 1 dilated cardiomyopathy); 4 had kidney involvement (3 polycystic kidney disease, 1 renal hamartoma); and 3 had retinal astrocytic hamartoma. Based on our study, the most common visceral organs involved were the heart and kidney. Among the ten patients with cardiac rhabdomyoma, six were less than 1 year old (mean age 1.6 +/- 2.2 years old). One newborn presented with a cardiac mass diagnosed by prenatal sonography and another newborn, noted to have tachycardia after birth, underwent surgical intervention due to impending heart failure. Four patients had kidney abnormalities; three were less than 5 years old (mean age 5.2 +/- 5.2 years). During this 10 year period, there was no mortality seen among patients with visceral organ involvement. We suggest that clinicians treating patients with TS should not overlook the visceral organs, especially heart and kidney, which, if involved can have significant morbidity.
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PMID:Tuberous sclerosis with visceral organ involvement. 1091 May 38

Tuberous sclerosis (TSC) is an autosomal dominantly inherited multisystemic disease characterized by the development of hamartomas predominantly in brain and kidneys. The TSC2 gene for tuberous sclerosis is localized on chromosome 16p13.3 immediately adjacent to PKD1, the gene for autosomal dominant polycystic kidney disease (ADPKD). A TSC2-PKD1 contiguous gene syndrome caused by chromosomal microdeletions disrupting both the TSC2 and PKD1 genes has been identified in patients with TSC and early-onset severe ADPKD. We report a 3-month-old Caucasian girl of non-consanguineous parents with TSC and early manifestation of ADPKD. She presented with right-sided focal seizures, two small hypopigmented areas on the left flank, and elevated blood pressure requiring antihypertensive treatment. Brain magnetic resonance imaging revealed typical signs of tuberous sclerosis and abdominal ultrasonography showed bilaterally enlarged kidneys with multiple cysts resembling those seen in ADPKD. There was no family history of renal disease or of tuberous sclerosis. Findings were highly suspicious of TSC2-PKD1 contiguous gene syndrome. Using fluorescence in situ hybridization and plasmid probe CW23, which spans the adjacent 3' regions of TSC2 and PKD1 genes, we identified a submicroscopic deletion on only one of the chromosomes 16p13.3, thus permitting the diagnosis of the TSC2-PKD1 contiguous gene syndrome.
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PMID:Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. 1500 23

Although the pathogenesis of cerebral aneurysms has been studied intensively, it is yet poorly understood. However, a genetic predisposition to this pathology has been often suspected. We describe a patient with both intracranial aneurysm and Angelman syndrome. Angelman syndrome is characterized by severe mental retardation, inappropriate laughter, absent speech, dysmorphic facial features and seizures. It is due to genetic abnormalities of chromosome 15. Cerebral aneurysms are sometimes associated with inherited diseases like autosomal dominant polycystic kidney disease. Moreover several candidate genes have been analysed, to search for genetic variants which might be associated with the occurrence of intracranial aneurysms. Our question is: is the association described in our observation fortuitous or do these diseases share a same genetic predisposition? Our observation also supports the hypothesis of a genetic participation in the genesis of cerebral aneurysms.
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PMID:[Angelman syndrome and intracranial aneurysm: fortuitous association or commune genetic predisposition?]. 1580 34


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