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Tuberous sclerosis and dysplasia of the corpus callosum. Case report of their combined occurrence in a newborn.

A neuropathological study is presented of a case showing the association of tuberous sclerosis of the brain and dysplasia of the corpus callosum as well as omphalocele and malrotated colon. No signs of tuberous sclerosis were found in the internal organs. From a review of the literature this appears to be the fourth case report of tuberous sclerosis and dysplasia of the corpus callosum. The association with omphalocele, to our knowledge, has not yet been reported.

Agenesis of Corpus Callosum↗

Tuberous sclerosis - neurosurgical indications in intraventricular tumors.

Thirteen cases of intraventricular tumors associated with tuberous sclerosis are described. The most common picture showed the "forme fruste", i.e. there were no signs of the typical clinical triad - metal retardation, seizures, and adenoma sebaceum - and there was usually no family history of tuberous sclerosis. There was a high incidence of increased intracranial pressure (76,9%). CT has made possible the preoperative diagnosis of an intraventricular tumor which is suggestive of tuberous sclerosis. The best surgical results were obtained by total excision of the tumor. The shunt procedures are discussed as a temporary surgery for relief of increased intracranial pressure and as a preparation of the patient for the final excision of the tumor. All the tumors were classified as subependymal giant cell astrocytomas according to the new classification of the World Health Organization.

Adolescent↗

Cardiac tumours in tuberous sclerosis: their incidence and course.

Cardiac tumours have been frequently reported in patients with tuberous sclerosis but their incidence at different ages has been evaluated in only a few studies. We performed echocardiography in 47 children with tuberous sclerosis and found tumours in 22 (47%). In none, except one newborn, did we observe any clinical symptoms of heart failure. Tumours were more frequent in children below 2 years of age (91%) than in older children. As other signs of tuberous sclerosis are often absent in infants, echocardiography may be regarded as the most useful diagnostic test at this age. Follow up studies were done in 12 children and tumour regression occurred in 6 patients.

Adolescent↗

Tuberous sclerosis associated with pachygyria. CT findings.

The case is presented of a 1.5-year-old with the typical CT features of tuberous sclerosis and pachygyria, in combination. Tuberous sclerosis was evidenced by multiple subependymal calcifications, and pachygyria by the relevant CT appearances. Periventricular heterotopia and total callosal agenesis were associated findings. The findings in this patient convincingly suggest a close relationship between tuberous sclerosis and pachygyria, although the case is the first to be reported in the literature.

Brain↗

Subependymal giant-cell astrocytoma associated with tuberous sclerosis: case report.

Tuberous sclerosis is a neurocutaneous syndrome with a wide variety of clinical, pathologic, and radiologic manifestations. Intracranial phakomatosis has been reported to include subependymal nodules; cortical tubers, and subependymal giant-cell astrocytomas. Subependymal giant-cell astrocytomas are rare, benign brain tumors of unknown histogenesis which cause increased intracranial pressure, seizures, and focal neurologic signs. The only treatment of these tumors is total surgical removal, because they are not sensitive to irradiation and chemotherapy. We report a patient with tuberous sclerosis who underwent surgery for a large subependymal giant-cell astrocytoma.

Angiofibroma↗

Giant abdominopelvic epithelioid angiomyolipoma associated with tuberous sclerosis: report of a case.

Tuberous sclerosis is a hereditary autosomal-dominant disease characterized by hamartomas that can develop in any organ. We report herein the case of a 34-year-old female with tuberous sclerosis and a huge abdominopelvic mass that started growing quickly 2 years after its diagnosis. The patient had undergone several previous operations for hydrocephalus and cerebral tubers, and a nephrectomy for right renal angiomyolipoma. On admission, she was in poor general health with renal failure, severe anemia, and weight loss. A laparotomy revealed that the tumor occupied the pelvis, the lower and part of the upper abdomen, and was hypervascularized, with an extremely irregular surface covered in nodules, vegetations, and areas of hemorrhagic necrosis. The development of the mass and the impossibility of recognizing the internal genital organs led us to assume that the formation had originated from these. Frozen-section examination indicated an undifferentiated tumor that had not been completely resected. Her postoperative course was complicated by bronchopneumonia and progressive renal failure. The patient died 10 days after surgery due to cardiorespiratory failure. A histological diagnosis of epithelioid angiomyolipoma was confirmed. Although it is presently impossible to determine whether angiomyolipoma with predominant epithelioid cells is more aggressive than typical angiomyolipoma, it definitively demonstrated local aggressive behavior in this patient.

Abdominal Neoplasms↗

Sinus node dysfunction in tuberous sclerosis.

Tuberous sclerosis is an autosomal dominant disease with potential for involvement of the skin, brain, lungs, kidneys, and heart. A case of prolonged sinus node pause and episodes of unresponsiveness in a 21-week-old infant with tuberous sclerosis is described. The infant subsequently underwent placement of an epicardial pacemaker. This case illustrates the importance of electrocardiographic studies in infants with tuberous sclerosis and seizure-like episodes.

Cardiac Pacing, Artificial↗

Tuberous sclerosis with hypothyroidism and precocious puberty.

Tuberous sclerosis complex has been associated though infrequently, with abnormalities in the endocrine tissues. Alterations in thyroid function, in patients with tuberous sclerosis have been reported rarely. We report a patient with tuberous sclerosis complex who presented with hypothyroidism and precocious puberty.

Child↗

[Koenen, Kothe and peri-ungual fibroma in tuberous sclerosis].

The periungual fibromas in tuberous sclerosis are also known as Koenen tumors. Joannes Henricus Maria Koenen was born on March 10, 1893, in Eindhoven and died in Bois-le-Duc May 29, 1956. From 1910 to 1918 he studied medicine at the University of Amsterdam. Then he worked as a physician at the "Coude-water" asylum in Rosmalen and from 1929 in the "Voorburg" asylum in Vught. In 1932 he published his publication concerning a family with tuberous sclerosis in which photographs of periungual fibromas are shown. His thesis in 1933 at the University in Leiden was titled "Imbecility in children. Its Importance in pedagogic and social regard, by reason of an investigation in some communities in Noord-Brabant". Later he was appointed director of a state mental institution. The periungual fibromas in tuberous sclerosis were first described by Richad Kothe in Munich in 1903.

Fibroma↗

Comparative analysis of MR sequences to detect structural brain lesions in tuberous sclerosis.

BACKGROUND: Tuberous sclerosis (TS) is a neurocutaneous genetically inherited disease with variable penetrance characterized by dysplasias and hamartomas affecting multiple organs. MR is the imaging method of choice to demonstrate structural brain lesions in TS. OBJECTIVE: To compare MR sequences and determine which is most useful for the demonstration of each type of brain lesion in TS patients. MATERIALS AND METHODS: We reviewed MR scans of 18 TS patients for the presence of cortical tubers, white matter lesions (radial bands), subependymal nodules, and subependymal giant cell astrocytoma (SGCA) on the following sequences: (1) T1-weighted spin-echo (T1 SE) images before and after gadolinium (Gd) injection; (2) nonenhanced T1 SE sequence with an additional magnetization transfer contrast medium pulse on resonance (T1 SE/MTC); and (3) fluid-attenuated inversion recovery (FLAIR) sequence. RESULTS: Cortical tubers were found in significantly (P<0.05) larger numbers and more conspicuously in FLAIR and T1 SE/MTC sequences. The T1 SE/MTC sequence was far superior to other methods in detecting white matter lesions (P<0.01). There was no significant difference between the T1 SE/MTC and T1 SE (before and after Gd injection) sequences in the detection of subependymal nodules; FLAIR sequence showed less sensitivity than the others in identifying the nodules. T1 SE sequences after Gd injection demonstrated better the limits of the SGCA. CONCLUSION: We demonstrated the importance of appropriate MRI sequences for diagnosis of the most frequent brain lesions in TS. Our study reinforces the fact that each sequence has a particular application according to the type of TS lesion. Gd injection might be useful in detecting SGCA; however, the parameters of size and location are also important for a presumptive diagnosis of these tumors.

Adolescent↗

Axillary artery aneurysm in tuberous sclerosis: cross-sectional imaging findings.

A 10-month-old boy with a known diagnosis of tuberous sclerosis presented with axillary and brachial masses. Cross-sectional imaging with computed tomography, magnetic resonance, and ultrasound demonstrated unsuspected aneurysms of the axillary and brachial arteries. The results of these studies significantly changed the preoperative planning for this patient, who was scheduled for a biopsy of a presumed soft-tissue tumor. To our knowledge, this is the first description of the cross-sectional imaging findings in the extremity peripheral vascular manifestation of tuberous sclerosis; it has only been previously described on angiography in one case. The rare association of peripheral arterial aneurysms with tuberous sclerosis is important to recognize not only for clinical diagnosis but also for appropriate surgical treatment and genetic counseling.

Aneurysm↗

Tuberous sclerosis: epileptogenicity and multimodal presurgical evaluations.

We report on a patient with tuberous sclerosis-related epilepsy who benefited from surgical treatment. Various presurgical evaluations, including positron emission tomography (PET), made it possible for us to localize the epileptic focus accurately. In this paper, we stress the importance of performing multimodal evaluations to determine which tubers really possess epileptogenicity. In addition, the implications of PET in tuberous sclerosis-related epilepsy are described.

Cerebral Cortex↗

Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study.

We report an autopsy case of tuberous sclerosis complex (TSC) in a 20-week gestational age female fetus. The brain showed lesions suggestive of early cortical tubers and subependymal hamartomatous nodules. The large cells within these nodular clusters were variably immunoreactive for glial fibrillary acidic protein (GFAP) and vimentin and negative for synaptophysin and neurofilament. Subependymal radial glia expressed both vimentin and GFAP, but subpial radial glia either did not express these markers (in contrast to an age-matched control) or were absent. Tuberin expression was noted in heterotopic neurons in the white matter and brain cells consistent with Cajal Retzius cells in the neocortical molecular layer, very weakly in superficial cortical neurons, neurons in the basal ganglia, Purkinje cells and external granular cells of cerebellum, cranial nerve nuclei neurons, occasional germinal matrix cells, ependymal cells, choroid plexus epithelium, and pituitary gland neuroendocrine cells; it was not seen within the cells of subependymal nodules. The pattern of tuberin immunoreactivity was similar to that which we have observed in older TSC patients. Proliferating cell labeling indexes were comparable in the germinal matrix of the TSC patient and an age-matched control. Abnormal subpial radial glia may be responsible for some of the neuronal migration abnormalities that appear to result in neocortical tubers.

Brain↗

Profiles of purine biosynthesis, salvage and degradation in disks of potato (Solanum tuberosum L.) tubers.

To find general metabolic profiles of purine ribo- and deoxyribonucleotides in potato (Solanum tuberosum L.) plants, we looked at the in situ metabolic fate of various (14)C-labelled precursors in disks from growing potato tubers. The activities of key enzymes in potato tuber extracts were also studied. Of the precursors for the intermediates in de novo purine biosynthesis, [(14)C]formate, [2-(14)C]glycine and [2-(14)C]5-aminoimidazole-4-carboxyamide ribonucleoside were metabolised to purine nucleotides and were incorporated into nucleic acids. The rates of uptake of purine ribo- and deoxyribonucleosides by the disks were in the following order: deoxyadenosine > adenosine > adenine > guanine > guanosine > deoxyguanosine > inosine > hypoxanthine > xanthine > xanthosine. The purine ribonucleosides, adenosine and guanosine, were salvaged exclusively to nucleotides, by adenosine kinase (EC 2.7.1.20) and inosine/guanosine kinase (EC 2.7.1.73) and non-specific nucleoside phosphotransferase (EC 2.7.1.77). Inosine was also salvaged by inosine/guanosine kinase, but to a lesser extent. In contrast, no xanthosine was salvaged. Deoxyadenosine and deoxyguanosine, was efficiently salvaged by deoxyadenosine kinase (EC 2.7.1.76) and deoxyguanosine kinase (EC 2.7.1.113) and/or non-specific nucleoside phosphotransferase (EC 2.7.1.77). Of the purine bases, adenine, guanine and hypoxanthine but not xanthine were salvaged for nucleotide synthesis. Since purine nucleoside phosphorylase (EC 2.4.2.1) activity was not detected, adenine phosphoribosyltransferase (EC 2.4.2.7) and hypoxanthine/guanine phosphoribosyltransferase (EC 2.4.2.8) seem to play the major role in salvage of adenine, guanine and hypoxanthine. Xanthine was catabolised by the oxidative purine degradation pathway via allantoin. Activity of the purine-metabolising enzymes observed in other organisms, such as purine nucleoside phosphorylase (EC 2.4.2.1), xanthine phosphoribosyltransferase (EC 2.4.2.22), adenine deaminase (EC 3.5.4.2), adenosine deaminase (EC 3.5.4.4) and guanine deaminase (EC 3.5.4.3), were not detected in potato tuber extracts. These results suggest that the major catabolic pathways of adenine and guanine nucleotides are AMP --> IMP --> inosine --> hypoxanthine --> xanthine and GMP --> guanosine --> xanthosine --> xanthine pathways, respectively. Catabolites before xanthosine and xanthine can be utilised in salvage pathways for nucleotide biosynthesis.

Adenine↗

Multifocal micronodular pneumocyte hyperplasia in a postmenopausal woman with tuberous sclerosis.

We report a peculiar case of multifocal micronodular pneumocyte hyperplasia (MMPH) without association of pulmonary lymphangioleiomyomatosis (LAM) in a 56-year-old postmenopausal woman with tuberous sclerosis. This case is surmised to be a forme fruste of tuberous sclerosis. Computed tomography demonstrated multiple micronodules, measuring up to 5 mm in size, present in the bilateral lung fields, but no cystic changes. A proliferation of pleomorphic type-II pneumocytes lining the thickened alveolar septa in an adenomatoid pattern, with an associated increase in alveolar macrophages, was observed without typical nuclear atypia. In fully developed lesions, the ingrowth of more proliferating type-II pneumocytes into the thickened alveolar septa and macrophages filling the alveolar lumens were characteristic findings. Proliferation of immature smooth muscle cells suggesting LAM was not observed. Positive immunohistochemical stains for cytokeratin, epithelial membrane antigen, and surfactant apoproteins A and B, and negative staining for HMB45, alpha-1 smooth muscle actin, desmin, and carcinoembryonic antigen confirmed the characteristics of alveolar lining cells in each MMPH lesion. MMPH associated with tuberous sclerosis in the postmenopausal woman appears to be similar to that described in premenopausal women. The present case is familial rather than sporadic and suggests no relationship between the development of MMPH and the underlying hormonal state.

Female↗

Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature.

A 5-year-old boy with a known diagnosis of tuberous sclerosis complex was found to have an enlarging renal mass on routine ultrasound. He was diagnosed with an angiomyolipoma (AML) and scheduled for close observation. Follow-up magnetic resonance imaging demonstrated the AML to be significantly enlarged and hypervascular. Selective arterial embolization of the tumor was performed, which resulted in an appropriate decrease in tumor size. Angiomyolipoma is a known and well-described complication of the tuberous sclerosis complex that is usually found among patients in their adolescent and adult years. The case presented here illustrates the need for early and repeated renal imaging of younger pediatric patients with tuberous sclerosis. Our experience adds to the literature on young pediatric patients requiring embolization for treatment of large renal angiomyolipomas.

Angiomyolipoma↗

Abdominal aortic aneurysm in a child with tuberous sclerosis.

Tuberous sclerosis is known to be associated with neurologic, renal and cardiac lesions. We report a case involving a child with tuberous sclerosis who developed infrarenal abdominal aortic aneurysm. Surgical therapy was successful. Although aortic aneurysm is uncommon in children with tuberous sclerosis, routine screening is necessary due to the high risk of death by rupture. Surgical treatment must be performed immediately.

Aortic Aneurysm, Abdominal↗

Tubers and rhizome fragments as propagules: competence for vegetative reproduction in Equisetum arvense.

Rhizome fragments (referred to as "fragments") and tubers of Equisetum arvense L. were cultured in order to investigate their competence with respect to vegetative reproduction. The starch concentration of the fragments was lower than that of the tubers, but the initial growth of new individuals from these fragments was superior to that from tubers obtained from the same dry mass. This superior growth was due to the large number of buds (grown from nodes) and aerial shoots on the fragments. The competence for vegetative reproduction depended on the relationship between the stored starch and the number of buds.

Equisetum↗