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PubMed2001

Infantile spasms in tuberous sclerosis complex.

The high incidence of infantile spasms (IS) and hypsarrhythmia in tuberous sclerosis complex (TSC) has long been emphasized but it is now clear that infants with TSC show clinical and EEG differences from those with classical West syndrome. Seizures at onset are mainly characterized by partial motor seizures and IS. Subtle partial seizures may be present in the early neonatal period and may precede the onset of IS. Visual recording techniques have led to significant progress in the classification of seizures associated with TSC, demonstrating that they have a focal or multifocal origin in the vast majority of cases. In most cases, an awake interictal EEG shows focal or independent multifocal spike and slow-wave activity at onset and later a pseudo-hypsarrhythmic pattern. Ictal EEG starts with focal spikes originating from the posterotemporal, or occipital regions followed by a generalized irregular slow transient and an abrupt diffuse flattening. Although the pathophysiological mechanisms responsible for the coexistence of partial seizures and IS are still unclear, IS associated with TSC may be the result of a rapid secondary generalization. The presence of IS due to TSC is strongly predicted by the cortical tuber count, while the age of onset of seizures and the age of occurrence of EEG foci depend on the localization of cortical tubers with an earlier expression of the parieto-occipital than of the frontal regions. Early recognition of these distinctive features appears worthwhile for therapeutic and prognostic implications. Despite the efficacy of vigabatrin the prognosis of IS is generally poor. Studies using combined topographic mapping of EEG, magnetic resonance imaging and positron emission tomography may provide new strategies for selecting candidates suitable for surgery.

Electroencephalography↗
PubMed2001

Neuropathology of tuberous sclerosis.

In the cerebrum of patients with tuberous sclerosis (TSC), there are three types of nodular lesions: cortical tubers, subcortical heterotopic nodules and subependymal giant cell astrocytomas. Histologically, these hamartias and hamartomas contain abnormal giant cells that show evidence of abnormal differentiation of immature neural cells. Recent identification of the TSC1 and TSC2 genes has facilitated studies of the molecular pathology of TSC. The expression of their protein products, hamartin and tuberin, is altered in various TSC lesions. However, the molecular mechanism by which cortical tubers develop remains to be elucidated. The Eker rat, a naturally occurring animal model of TSC, will provide a powerful tool for future investigations of TSC.

Animals↗
PubMed1982

Immunohistochemical and biochemical studies on collagen types in angiofibromas and shagreen patches from patients with tuberous sclerosis.

The distribution of collagen types in angiofibroma and shagreen patch from patients with tuberous sclerosis was examined biochemically and immunohistochemically by indirect immunofluorescence microscopy using type-specific anti-collagen antibodies. Types I and III collagens were distributed in the interstitium of whole tumor tissues of angiofibriomas and a shagreen patch, showing relatively fine fibers at the periphery and large bundles in the center. No significant difference in the distribution of type I and III collagens was observed. Densitometric analysis of gel electrophoresis patterns of collagens solubilized from the skin by limited pepsin digestion revealed that both type I and III collagens were the main constituents of the diseased regions of the skin with tuberous sclerosis, and the ratio of type I collagen/type III collagen was relatively constant, which was not contradictory to the results of immunofluorescence microscopy. The presence of an unidentified component, probably type V collagen, was observed in the angiofibroma tissue from one patient with tuberous sclerosis.

Adolescent↗
PubMed1999

Sudden unexpected death associated with HHV-6 in an adolescent with tuberous sclerosis.

A 14-year-old female with tuberous sclerosis and history of seizures was found dead in bed at home 3 days after she had been assessed as doing well at a routine neurology clinic appointment. She had been treated with an antiepileptic drug, felbamate, for 36 months and had been seizure-free except for one seizure episode 5 months before death. Postmortem examination revealed cerebral edema, with uncal and tonsillar herniation, and pulmonary edema, consistent with seizure-induced apnea. Multiple microglial nodules with mature perivascular lymphocytic cuffing and diffuse infiltrates were identified around subependymal tuberous sclerosis giant cell nodules. Immunostaining and electron microscopy revealed human herpesvirus-6-infected macrophages, astrocytes, lymphocytes, and endothelial cells in the subependymal tuberous sclerosis lesions and choroid plexus. Subacute human herpesvirus-6 encephalitis is postulated to have precipitated a seizure and thus sudden unexpected death in epilepsy in this otherwise stable adolescent patient.

Adolescent↗
PubMed1999

Tuberous sclerosis associated with MDR1 gene expression and drug-resistant epilepsy.

Intractable seizures are the most common manifestation in severe cases of tuberous sclerosis. Multidrug resistance type 1 (MDR1) gene expression is directly linked to the resistance of tumor cells to chemotherapy as the major cause of treatment failure, but it has not been reported in tuberous sclerosis cells nor has the relationship between the MDR1 gene and antiepileptic drugs been described. A 4-month-old female is described with poorly controlled seizures secondary to tuberous sclerosis. The patient was treated with antiepileptic drugs, including phenytoin, phenobarbital, and lorazepam, without improvement of symptoms. Phenytoin blood levels were invariably subtherapeutic and ranged from 0.45 to 3.55 microg/mL, despite several consecutive intravenous loading doses. Surgical treatment with total resection of the brain lesions was performed as a last resort. Immunohistochemical analysis of the resected tissues revealed high levels of P-glycoprotein 170 expression, the product of the MDR1 gene. Both MDR1 gene expression and persistently low phenytoin levels likely share a common pathway liable to induce drug-resistant epilepsy.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed1997

Randomized trial comparing vigabatrin and hydrocortisone in infantile spasms due to tuberous sclerosis.

Vigabatrin has been shown to be efficient in infants with infantile spasms and tuberous sclerosis, in open studies. In order to compare vigabatrin to oral steroids, a prospective randomized multicenter study was implemented using both drugs as monotherapy in newly diagnosed patients with infantile spasms and tuberous sclerosis. Eleven infants received vigabatrin (150 mg/kg per day) and 11 hydrocortisone (15 mg/kg per day) for 1 month. Spasm free patients continued vigabatrin or progressively stopped hydrocortisone in 1 month, non-responders were crossed to the other drug for a new 2 month-period. All vigabatrin patients (11/11) were spasm-free versus 5/11 hydrocortisone infants (P < 0.01). Seven patients were crossed to vigabatrin (six for inefficacy, one for adverse events) and became also totally controlled. Mean time to disappearance of infantile spasms was 3.5 days on vigabatrin versus 13 days on hydrocortisone (P < 0.01). Five patients exhibited side effects on vigabatrin but nine on hydrocortisone (P = 0.006). Vigabatrin should therefore be considered as the first choice treatment for infantile spasms due to tuberous sclerosis.

Anticonvulsants↗
PubMed1999

Use of melatonin to treat sleep disorders in tuberous sclerosis.

The results of a therapeutic trial of the use of melatonin in patients with tuberous sclerosis complex who also have severe sleep problems are reported. We used a randomized double-blind placebo-controlled crossover design. Seven patients with confirmed diagnoses of tuberous sclerosis and significant sleep disorder were recruited. We employed three outcome measures: total sleep time, time to sleep onset, and number of awakenings. Patients treated with melatonin had a small but clinically significant improvement in total sleep time (mean improvement 0.55 hours, P<0.05). They also tended to have an improvement in sleep-onset time but this did not reach statistical significance. Melatonin, in this trial, had no discernible effect on sleep fragmentation. We conclude that melatonin does have a beneficial effect in prolonging the total sleep time of patients with tuberous sclerosis and sleep disorder and that further trials are necessary to investigate the issues of optimal dosage, tolerance, and possible interactions with other medications.

Adolescent↗
PubMed2004

Comparison of fatty acid and polar lipid contents of tubers from two potato species, Solanum tuberosum and Solanum phureja.

Total and individual fatty acid contents were determined in raw tubers of four genotypes from each of the two species Solanum phureja and S. tuberosum. The four S. phureja genotypes contained statistically significantly higher concentrations of total fatty acids, with their average value being 37% greater than that for the mean of the four S. tuberosum cultivars. In both species, a total of 17 fatty acids were detected in quantifiable amounts, and in all genotypes the predominant fatty acid was linoleic followed by alpha-linolenic and palmitic acids. Unusually, 15-methyl hexadecanoate was present as a minor acid in both species. Although a number of statistically significant differences in the fatty acid percentage compositions were found between and within the two species, these were generally small. Averaged over all species and genotypes, tuber storage resulted in an initial small but statistically significant increase in total fatty acid content, but prolonged storage resulted in a fall to the initial values detected close to harvest. The same trend was evident for S. phureja alone (for mean values of all genotypes), but for S. tuberosum the total fatty acid content remained constant over the whole storage period. For both species, the contents (both as absolute levels and as percent compositions) of linoleic acid decreased and alpha-linolenic acid increased in tubers over the whole storage period, and possible mechanisms are discussed. Also, the absolute levels of these two acids were greater in S. phureja than in S. tuberosum, and this is discussed in relation to the development of flavor-related compounds during cooking. The polar lipids of one representative of S. tuberosum and of S. phureja were qualitatively similar. There were only minor differences in the polar lipid percentage compositions and in the corresponding fatty acid compositions of the individual polar lipids between the two species, although the absolute levels of the total, and of some individual, polar lipids were higher in S. phureja.

Fatty Acids↗
PubMed2005

Insecticidal activity of Arum maculatum tuber lectin and its binding to the glycosylated insect gut receptors.

Mannose binding approximately 50 kDa homotetrameric lectin, purified from edible Arum maculatum tuber, was analyzed through SDS-PAGE and studied for its agglutination property using rabbit erythrocytes. Cross reactivity of the purified lectin was verified through western blot using Colocasia esculantum(Family, Araceae) tuber lectin antibody. The insecticidal activity of Arum maculatum tuber lectin (ATL) was tested against two economically important sucking pests, Lipaphis erysimi and Aphis craccivora, in an artificial diet. The LC(50) values for L. erysimi and A. craccivora were determined to be 21 microg/mL and 16 microg/mL, respectively. Addition of alpha-d-mannose in ATL-supplemented diet reduced the aphid mortality. Two major receptor proteins of ATL (approximately 40 kDa and approximately 35 kDa) were detected from the brush border membrane vesicle (BBMV) protein of L. erysimi and A. craccivora guts, respectively, using ligand-binding assay. Alpha-d-Mannose was found to be a deterrent to such binding of ATL to the BBMV receptors.

Animals↗
PubMed2006

High-performance liquid chromatography with photodiode array detection (HPLC-DAD)/HPLC-mass spectrometry (MS) profiling of anthocyanins from Andean Mashua Tubers (Tropaeolum tuberosum Ruíz and Pavón) and their contribution to the overall antioxidant activity.

Mashua (Tropaeolum tuberosum Ruíz and Pavón), an Andean tuber with high antioxidant activity, has sparked interest because of its traditional medicinal use. In this study, we evaluated the anthocyanin composition for three purple mashua genotypes and their contribution to the overall antioxidant activity of the tuber. Mashua anthocyanins, total phenolics, and 2,2'-azinobis(3-ethylbenzothiazoline-6-sulfonic acid) (ABTS) antioxidant activity ranged from 45.5 to 131.9 mg of cyanidin 3-glucoside equivalents/100 g fresh weight (FW), 174.9 to 275.5 mg of gallic acid equivalents/100 g of FW, and 16.2 to 45.7 micromol of Trolox equivalents/g of FW, respectively. The high-performance liquid chromatography with photodiode array detection (HPLC-DAD) and HPLC-electrospray ionization tandem mass spectrometry (ESI/MS-MS) profiles revealed the presence of 11 different anthocyanins. The two major pigments (56.4-73.0% total area range at 520 nm) were identified as delphinidin 3-glucoside-5-acetylrhamnoside and delphinidin 3-sophoroside-5-acetylrhamnoside. Other pigments were delphinidin 3-glucoside-5-rhamnoside, delphinidin 3-sophoroside-5-rhamnoside, delphinidin 3-glucoside, cyanidin 3-sophoroside, and cyanidin 3-sophoroside-5-rhamnoside. Cyanidin 3-glucoside and cyanidin 3-rutinoside were only found in two genotypes, while pelargonidin 3-sophoroside and pelargonidin 3-sophoroside-5-rhamnoside were only found in the third one. Anthocyanins from mashua were the major contributors to the total ABTS values for only one of the three genotypes, suggesting that other phenolics present are playing a major role in the antioxidant power of mashua tubers. Results from this study provide important information for the Nutraceutical and Functional Food Market for the use of mashua anthocyanins not only as a source of natural colorants but also as a source of phytonutrients.

Anthocyanins↗
PubMed2007

Effects of season and postharvest storage on the carotenoid content of Solanum phureja potato tubers.

The total carotenoid content was determined of tubers from 38 Solanum phureja lines grown in field plots over 3 years. The results indicated a significant difference between years, but the ranking was similar from year to year and the interaction between season and variety was small. Postharvest storage significantly reduced the carotenoid content of the tubers, and reducing the storage temperature further lowered the carotenoid content. Examination of the individual carotenoids revealed that lutein was the most stable and least likely to be reduced, while the levels of the carotenoids derived from beta-carotene were significantly reduced during storage at either temperature. Exposure of the tubers to either mercury or sodium lights resulted in a significant increase in total carotenoid content, concomitant with elevated chlorophyll. Although both types of radiation produced a broadly similar increase in total carotenoid contents, differential effects on the individual carotenoid profile of the light-induced carotenoids were observed.

Carotenoids↗
PubMed1999

Changes in the expression and distribution of fibronectin, laminin and tenascin by cultured fibroblasts from skin lesions of patients with tuberous sclerosis.

Fibronectin, laminin and tenascin play an important part in the assembly of the extracellular matrix and the interaction of cells with it. In this study, changes in their expression and distribution associated with tuberous sclerosis are reported. Fibroblasts from three different tuberous sclerosis skin lesions (forehead plaque, neck fibroma and ungual fibroma) secreted more fibronectin and tenascin into their culture medium than did normal skin fibroblasts. Immunohistochemistry and flow cytometry showed that cells from an ungual fibroma which secreted most of each of these glycoproteins also retained more of them, associated mainly with the cell surface and a perinuclear area. Laminin was also produced by all fibroblasts but only in those from the neck fibroma was more both secreted and retained. The proportions of fibronectin/laminin/tenascin secreted by the skin lesion fibroblasts were markedly different from normal. The results suggest that the characteristic tissue hardening of skin lesions in tuberous sclerosis may result, at least in part, from differences in the expression and distribution of these critical components of the extracellular matrix and its consequent abnormal assembly.

Adolescent↗
PubMed2002

Tuberous sclerosis: a presentation of less-commonly encountered stigmata.

The protean manifestations of the tuberous sclerosis complex have lent this condition to extensive review in textbooks and in the medical literature. This condition generally presents by virtue of its neurological manifestations. Osseous stigmata, when encountered, are generally asymptomatic and do not require specific treatment owing to their benignity. We present the case of a young man with a slowly enlarging facial swelling for whom cosmetic surgery was considered. The swelling, present since childhood, had in time assumed disfiguring proportions. In what was hitherto considered an isolated facial deformity, a skull radiograph followed by CT revealed neurological stigmata of tuberous sclerosis. A large cerebellar hamartoma, proliferative soft tissue in the scalp adjacent to focal hyperostosis of the calvarium and the accompanying hemifacial changes seen in this patient constitute less commonly described features of tuberous sclerosis.

Adult↗
PubMed2006

Gradual formation of an operative corridor by balloon dilation for resection of subependymal giant cell astrocytomas in children with tuberous sclerosis: specialized minimal access technique of balloon dilation.

BACKGROUND: Major sources of morbidity and mortality in patients with tuberous sclerosis who develop subependymal giant cell astrocytomas (SEGAs) relate to tumor growth and resultant hydrocephalus. We describe a modification of a specialized minimal access resection technique in which an operative corridor is formed with balloon dilation over the course of a week prior to tumor resection. METHODS: Three patients with tuberous sclerosis who had an enlarging SEGA and concomitant hydrocephalus underwent surgical resection with this modified technique. A frontal craniotomy was performed and the optimal trajectory for tumor resection was confirmed by image guidance. After initial insertion of the deflated balloon into the ventricle and removal of the peel-away sheath, inflation of the balloon with a 1-mL saline injection sealed the tract. Additional 1-mL saline injections were continued during the next week until the balloon reached a 15-mm diameter, thus creating the operative corridor. One week after the first operation, the balloon was deflated and removed, and the patient underwent tumor resection via the newly formed operative corridor. RESULTS: Three patients with tuberous sclerosis underwent gross total resections of SEGAs and experienced subsequent resolution of ventricular dilation. Postoperative imaging confirmed minimal cortical disruption. CONCLUSIONS: Use of balloon dilation for the gradual formation of an operative corridor eliminated the need for additional retraction during SEGA resection, potentially decreasing injury to the surrounding neural tissue. In our three patients, the dilation tract retained its integrity during the operation and had sealed completely on postoperative imaging.

Adolescent↗
PubMed1997

[Infra-saccular lacrimal duct stenosis caused by bone thickening of the inner nasal bones in tuberous sclerosis].

BACKGROUND: Patients with tuberous sclerosis (Morbus Bourneville-Pringle) may show hamartomatous tumors of different organ systems. 50% of patients display astrocytic hamartomas of the retina. The skeletal system is affected in 40%: peri-, en- or exostoses, or cysts may occur. To the best of our knowledge, there are only three descriptions of an involvement of the facial skeleton in the literature. PATIENT: A 54-year-old man presented with recurrent dacryocystitis and lacrimal duct obstruction. Tuberous sclerosis and epilepsy were present since childhood. Besides typical skin lesions and intracranial calcified astrocytomas a retinal astrocytoma was detected in his left eye. Coronal CT scan revealed endonasal bone thickening involving the nasal floor, conchae and lateral walls. Evidence of maxillary and ethmoidal sinusitis was also present. CONCLUSION: The endonasal findings in our patient are most likely a manifestation of tuberous sclerosis of the facial skeleton. They may have favored the development of marked sinusitis and lacrimal duct obstruction.

Dacryocystitis↗
PubMed2000

Oral health management implications in patients with tuberous sclerosis.

We report 6 cases of patients with tuberous sclerosis and concomitant dental pathosis. The multiple manifestations in tuberous sclerosis determine its impact on dental therapy. A lack of awareness of this condition may compound the possible side effects of dental treatment. Possible preventive measures by dentists are highlighted in this presentation. Medical evaluation and the control of risk factors in relation to general anesthesia and sedation are key considerations for the management of patients with tuberous sclerosis.

Adolescent↗
PubMed2004

Generic delimitations in tuberous Periplocoideae (Apocynaceae) from Africa and Madagascar.

BACKGROUND AND AIMS: The number of genera included in Apocynaceae subfamily Periplocoideae is a matter of debate. DNA sequences are used here as an independent dataset to clarify generic relationships and classification of the tuberous periplocoid genera and to address the question of the phylogenetic interpretation of pollinia formation in Schlechterella. METHODS: Representatives of nearly all African and Malagasy genera of Periplocoideae possessing root tubers were analysed using ITS and plastid DNA sequence characters. RESULTS: Sequence data from non-coding molecular markers (ITS of nrDNA and the trnT-L and trnL-F spacers as well as the trnL intron of plastid DNA) give support for a broad taxonomic concept of Raphionacme including Pentagonanthus. Together with Schlechterella, which is sister to Raphionacme, all Raphionacme-like taxa form a derived monophyletic group of somewhat diverse species. Sister to the Schlechterella/Raphionacme clade is a clade comprising Stomatostemma and the not truly tuberous vine Mondia. In the combined analysis, sister to these two clades combined is a clade formed by Petopentia natalensis and Periploca. CONCLUSIONS: The recent inclusion of the monotypic South African Petopentia in the monotypic Malagasy endemic Ischnolepis is to be rejected. The Malagasy Camptocarpus is sister to the remainder of Periplocoideae in the ITS and combined analyses, and a Malagasy origin for the subfamily is discussed.

Africa↗
PubMed1994

Anaesthesia and tuberous sclerosis.

The anaesthetic management of a patient with tuberous sclerosis undergoing two-stage scoliosis surgery is described. The patient suffered from severe mental retardation, seizures and facial angiofibromas. General anaesthesia using isoflurane and nitrous oxide in oxygen, supplemented with opioid analgesia and hydralazine, and labetalol to induce hypotension, appeared to be satisfactory. Postoperative recovery was delayed and complicated by pleural effusion, sputum retention and mild seizures. Tuberous sclerosis is an autosomal dominant disease well known for its neurocutaneous manifestations. Other organs such as the heart, lungs and kidneys may be involved. The potential problems in the anaesthetic management of a patient with tuberous sclerosis are discussed.

Adolescent↗