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PubMed2003

Structure identification of five unknown dilipo-alkaloids extracted from processed tuber of Aconitum Carmiechaeli by electrospray ionization tandem mass spectrometry.

The alkaloids in processed aconite tuber of Aconitum Carmiechaeli were studied, and five novel alkaloids in extract from processed aconite tuber were found. The first step involved the use of electrospray ionization mass spectrometry (ESI-MS), and then multi-stage tandem mass spectrometry (MSn) was used to provide structural information. Based on their MSn spectra, the structures of the five novel compounds were elucidated to be C3,C8-difatty acid esters of mesaconitine, aconitine and 10-hydroxyaconitine.

Aconitine↗
PubMed1993

Metabolic bone disease (anticonvulsant osteomalacia) and renal tubular acidosis in tuberous sclerosis.

The characteristics triad of tuberous sclerosis-adenoma sebaceum, mental deficiency and epilepsy-associated with distal-type renal tubular acidosis was combined with anticonvulsant osteomalacia in a 41-year-old woman. In addition to the specific bone lesions of tuberous sclerosis, the bone disease was caused by an adverse effect of a drug and possibly also by the renal disorder leading to significant musculoskeletal disability. In response to calcium carbonicum and 1-25-dihydroxyvitamin D therapy the musculoskeletal disability healed and the abnormal biochemical markers of anticonvulsant osteomalacia disappeared. The present observation draws attention to the increased hazard threatening patients on chronic anticonvulsant therapy simultaneously suffering from renal diseases.

Acidosis, Renal Tubular↗
PubMed1999

Tuberous sclerosis associated with multiple hepatic lipomatous tumors and hemorrhagic renal angiomyolipoma.

We report a case of tuberous sclerosis associated with hepatic lipomatous tumors and renal angiomyolipomas. Abdominal ultrasonography revealed a high echoic large tumor in the left kidney. A provisional diagnosis of angiomyolipomas of the kidney was made based on computed tomography. Subsequent laparotomy revealed that the extracted tumor was renal angiomyolipoma. It was also revealed that there was an association with hepatic lipomatous tumors thought to be lipomas or angiomyolipomas by liver biopsy. Nearly half of all cases of angiomyolipoma in the kidney are reported as occasional association with tuberous sclerosis complex, but lipomatous tumors in the liver are rare.

Adult↗
PubMed2005

Multifocal micronodular pneumocyte hyperplasia in a man with tuberous sclerosis.

We report a peculiar case of multifocal micronodular pneumocyte hyperplasia (MMPH) occurring in a 43-year-old man with tuberous sclerosis. Computed tomography of the chest demonstrated multiple micronodules, measuring up to 5 mm in size, present bilaterally in the lung fields, with no cystic change. Histologically, a proliferation of type II pneumocytes without the typical nulclear atypia lined the thickened alveolar septa in an adenomatoid pattern. Proliferation of immature smooth muscle cells suggestive of LAM was not observed. The characteristic findings of the positive immunohistochemical stains for cytokeratin and surfactant apoprotein A and B, and negative stains for HMB-45, alpha-1 smooth muscle actin, desmin, p53 and carcinoembryonic antigen confirmed the presence of alveolar lining cells in each MMPH lesion. Since the MMPH was observed in a male and did not appear to possess malignant potential, the MMPH appears to be a hamartomatous proliferation occurring in a male with tuberous sclerosis that is separate from lymphangiomyomatosis (LAM) which is related to estrogen and progesterone receptors.

Adult↗
PubMed2006

Tuberous sclerosis complex complicated by pulmonary multinodular shadows.

A 41-year-old woman with a history of epilepsy was referred for multiple nodular ground-glass opacities on a chest computed tomography (CT) scan. They were initially suspected of representing atypical adenomatous hyperplasia or well-differentiated adenocarcinoma. However, the subsequent brain CT and magnetic resonance imaging (MRI) scans revealed a coarse nodular calcification and cortical tubers. A subungual fibroma was also noted. Histological examination of a video-assisted thoracoscopic lung biopsy specimen disclosed multiple nodules of type II pneumocyte hyperplasia with septal thickening. Based on all of these findings taken together, a diagnosis of tuberous sclerosis complex with multifocal micronodular pneumocyte hyperplasia (MMPH) was made.

Adult↗
PubMed1985

Vascular dysplasia in a child with tuberous sclerosis.

Tuberous sclerosis is characterized by the development of hamartomas in many organs, particularly the brain, skin, heart, and kidney. We report a child with typical features of this disease who also had a severe generalized vascular dysplasia of both muscular arteries and veins and an abdominal aortic aneurysm in association with obliterative dysplasia of the aortic vasa vasorum. This is the first report of such a widespread vascular abnormality in association with tuberous sclerosis. This case along with several reports of more isolated vascular abnormalities in these patients indicates that vascular dysplasia represents another manifestation of the generalized tendency to hamartoma formation seen in this disorder.

Aorta↗
PubMed1997

Surgical management and seizure outcome in patients with tuberous sclerosis.

The authors report the results obtained in 11 patients with tuberous sclerosis (TS) who underwent cortical resection surgery for medically intractable epilepsy. Patients' ages at time of surgery ranged from 3 to 46 years (mean 19.6 years). Preoperative epileptiform electroencephalographic abnormalities were focal spike wave discharges in six patients (55%), multifocal in four patients (36%), and generalized in one patient (9%). In the multifocal and generalized groups, all patients (45%) were evaluated by means of subdural grid and strip electrode recordings, whereas electrophysiological localization in the remaining patients was derived from ictal and interictal scalp recordings. The seizure foci were found to be extratemporal in six patients (55%) and temporal in five patients (45%). Surgical intervention consisted of craniotomy and seizure foci resection guided by electrocorticographic monitoring and functional mapping in five awake (45%) and six asleep (55%) patients. Neuropathological examination of the resected seizure foci revealed cortical tubers in eight patients and diffuse gliosis in three patients. Follow up ranged from 8 to 127 months (mean 35 months). Six patients (55%) were seizure free, half of whom were not receiving antiepileptic drugs (AEDs); three patients (27%) had a greater than 70% reduction in seizure frequency, although they required AEDs; one patient (9%) had a 50% temporary reduction in seizure frequency during the initial 6-month postoperative period; and one patient (9%) was lost to follow-up study. From this small but adequately followed patient population with TS, the authors conclude that cortical resection of seizure foci tailored to electrocorticographic findings and functional mapping is encouraging for this difficult to manage patient population with medically intractable epilepsy.

Adolescent↗
PubMed2002

Symptomatic osteolipoma of the tuber cinereum. Case report.

The authors present a case of an ossified lipoma located at the tuber cinereum. Intracranial osteolipomas are rare lesions that occur in the region of the tuber cinereum. Almost all reported cases have been incidental autopsy findings. This report, however, involves a young girl who presented with an ovarian cyst and signs of precocious puberty, in whom a typical osteolipoma was surgically removed. This is the first case of hypothalamic osteolipoma presenting with endocrinological disturbances that has been published to date.

Brain Neoplasms↗
PubMed2003

Indocyanine green angiography of retinal astrocytomas associated with tuberous sclerosis.

As small astrocytic hamartomas can sometimes be missed during routine ophthalmoscopy in patients with tuberous sclerosis, fluorescein and/-or indocyanine green angiography maybe more helpful in identifying such small astrocytomas. In fluorescein angiography, astrocytomas show gradually increasing hyperfluorescence due to the vascular permeability of astrocytomas. In indocyanine green angiography, astrocytomas appear hypocyanescent, most prominently during the late phases. We report the indocyanine green angiographic findings of retinal astrocytomas in a patient with tuberous sclerosis.

Adolescent↗
PubMed2006

Glycemic index of cereals and tubers produced in China.

AIM: To determine the GI of some cereals and tubers produced in China in an effort to establish the database of glycemic index (GI) of Chinese food. METHODS: Food containing 50 g carbohydrate was consumed by 8-12 healthy adults after they have been fasted for 10 h and blood glucose was monitored for 2 h. Glucose was used as reference food. GI of food was calculated according to a standard method. RESULTS: GI of 9 types of sugar and 60 kinds of food were determined. CONCLUSION: Food GI is mainly determined by nature of carbohydrate and procession. Most of cereals and tubers produced in China have similar GI with their counterparts produced in other countries.

Adult↗
PubMed2005

Ultrafast MRI in the prenatal diagnosis of Bourneville's tuberous sclerosis.

The purpose of this report is to highlight the utility of prenatal MRI as an adjunctive imaging modality in the diagnosis and prognosis of Tuberous Sclerosis (TS) (Bourneville's disease). We report a case of TS detected in utero at 30 weeks gestation. A routine ultrasonography at 26 weeks in a 28-year-old primigravida was followed by an ultrafast MRI examination at 30 weeks gestation. Ultrasound raised the possibility of TS based on the detection of multiple cardiac rhabdomyomas. Fetal MRI, subsequently performed, showed the presence of cortical tubers and subependymal nodules establishing the diagnosis. Fetal MRI in the appropriate clinical setting can be potentially invaluable and can have important prognostic implications.

Adult↗
PubMedDate not supplied

Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria.

Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved and the palms, soles and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles and oral mucosa. To our knowledge, this is the first reported case of such an association.

Adolescent↗
PubMed2004

[Eyelid and cutaneous lesions as the sole indicators of tuberous sclerosis].

CASE REPORT: A 53-year old woman presented a tuberous sclerosis complex (Bourneville's disease) characterised by facial cutaneous angiofibromas, periungual fibromas and cutaneous leaf-shaped macules in the thorax. She also presented two neoplasms in the left lower eyelid which were histopathologically diagnosed as angiofibromas. There were no other ophthalmologic or systemic findings. DISCUSSION: Tuberous sclerosis complex is an autosomical dominant neurocutaneous phakomatosis in which up to 80% of cases represent new mutations, characterized by mental retardation, epilepsy and angiofibromas. Incidence is very low and ophthalmic presentation with isolated cutaneous angiofibromas is most unusual.

Angiofibroma↗
PubMed1998

[Tuberous sclerosis associated with renal angiomyolipoma, pulmonary lymphangioleiomyomatosis and subungual fibroma: report of a case].

We report a case of tuberous sclerosis associated with bilateral renal angiomyolipomas (AMLs), pulmonary lymphangioleiomyomatosis (LAM) and subungual fibroma of hands and feet. A 42-year-old woman who was diagnosed as tuberous sclerosis at the age of 18 complained of left flank pain and abdominal fullness. Bilateral renal AMLs were pointed out when complete examinations were performed for hypertension at the age of 32. She suffered from severe left flank pain and abdominal distension due to the left renal tumor. Left nephrectomy and excision of the renal hilar tumor were performed. The left renal tumor weighed 1120 g, the perirenal space was filled with the tumor. histopathological diagnosis of the left renal tumor and renal hilar tumor was AML. In our case, bilateral pneumothorax appeared, and chest CT scan revealed bilateral multiple pulmonary cysts. Histopathological diagnosis of pulmonary cysts was LAM. Other complications of our case are intracranial calcification and adenoma sebaceum.

Adenoma↗
PubMed1999

Isolation and characterization of a rat homologue of the human tuberous sclerosis 1 gene (Tsc1) and analysis of its mutations in rat renal carcinomas.

In the Eker rat, a germ-line mutation in the homologue of the human tuberous sclerosis gene (Tsc2) causes renal cell carcinomas (RCs) with a complete penetrance in all heterozygotes. Tsc2 mutations have also been found in a subset of chemically induced non-Eker rat RCs. Because tuberous sclerosis patients with alteration of either of the two predisposing genes (TSC1 and TSC2) show identical symptoms, the products of these two genes are thought to be involved in a common biological pathway. In this study, to analyze the possible overlap between the functions of Tsc2 and Tscl gene products, we isolated and characterized a rat homologue of the TSC1 gene (Tsc1). The rat Tsc1 gene, which has an identical exon-intron structure to that of human TSC1 and is localized on rat chromosome 3, has been shown to encode a protein (hamartin) that is highly homologous to the human counterpart with an approximately 86% amino acid sequence identity. Using PCR-single-strand conformational polymorphism analysis, we identified two splicing donor site mutations in one chemically induced rat RC (1 of 15). This suggests that alterations of the Tsc1 gene may be involved in the development of a subset of rat RCs.

Adult↗
PubMed1999

[Ventricular outflow tract obstruction by cardiac tumors during ACTH therapy of an infant with tuberous sclerosis].

In an infant with tuberous sclerosis and West syndrome, ACTH treatment was interrupted because of augmentation of the biventricular outflow tract obstruction. A 5-month-old boy, who had been diagnosed to have multiple cardiac tumors since in utero, manifested West syndrome with typical hypsarhythmia in EEG. Several days after starting low dose ACTH treatment, a systolic murmur due to biventricular outflow tract obstruction intensified with ventricular arrhythmia. A tumor in the left ventricular outflow tract was enlarged. Discontinuation of daily administration of ACTH and administration of a beta-blocking agent improved the cardiac problems. Acceleration of blood velocity in the outflow tracts disappeared two months later. Intracardiac morphology and hemodynamic performance should be monitored to avoid critical complications during ACTH treatment in patients with tuberous sclerosis.

Adrenocorticotropic Hormone↗
PubMed1999

[Atrial fibrillation and the Wolff-Parkinson_White syndrome in a 68-year-old patient with tuberous sclerosis].

Tuberous sclerosis is an autosomal-dominant disease with involvement of several organs, the heart included. The cardiac anomaly most frequently found is the rhabdomyoma association. However, WPW association has also been encountered more common than usual. In the majority of the published related-series, infant or adolescent patients are described. We report the case of a 68-year-old patient with tuberous sclerosis whose first cardiac manifestation was a pre-excited atrial fibrillation. This association is reviewed and the consideration of accessory pathways is highlighted as the first mechanism to take into account when arrhythmias are present in these patients even in adult age.

Aged↗