1/8. Macrodystrophia lipomatosa with associated fibrolipomatous hamartoma of the median nerve.Macrodystrophia lipomatosa (MDL) is a rare disease typically causing localized gigantism and is often associated with a fibrolipomatous hamartoma (FH) of the median or plantar nerve. A previously unreported case of MDL with associated FH of the median nerve is presented.- - - - - - - - - - ranking = 1keywords = median nerve, median, nerve (Clic here for more details about this article) |
2/8. Macrodystrophia lipomatosa: CT and MR findings.Macrodystrophia lipomatosa is a congenital macrodactyly characterized by proliferation of all mesenchymal components, particularly fibroadipose tissue. We report imaging features of two such patients. MR imaging and CT scanning demonstrated proliferation of fatty tissue in the territory of the median nerve in the hands and forearms, characteristic of macrodystrophia lipomatosa.- - - - - - - - - - ranking = 0.19952650796554keywords = median nerve, median, nerve (Clic here for more details about this article) |
3/8. Pegvisomant therapy in pituitary gigantism: successful treatment in a 12-year-old girl.OBJECTIVE: The use of a growth hormone (GH) receptor antagonist, pegvisomant has shown great promise in adults with acromegaly, but experience in paediatric patients is lacking. We aimed to describe the results of pegvisomant therapy in a 12-year-old girl with an aggressive GH-secreting pituitary tumour. DESIGN: To evaluate the ability of pegvisomant therapy to control the effects of peripheral GH excess in a case of pituitary gigantism. methods: Pegvisomant was introduced at 10 mg/day, given subcutaneously, and gradually increased to 20 mg/day until serum IGF-I was normal for age. RESULTS: A large pituitary adenoma with suprasellar extension was diagnosed in a 12-year-old girl with progressive tall stature (178 cm), GH hypersecretion without suppression during oral glucose loading (nadir serum GH, 90 mU/l), high serum IGF-I and serum prolactin levels. Surgical extirpation was not possible because tumour tissue was fibrous and adherent to the optical nerves. Histological examination showed a mixed GH- and prolactin-secreting adenoma with lymphocytic infiltration of B and T cells. Treatment with a dopamine agonist, cabergoline, normalized serum prolactin, but GH secretion was resistant to both somatostatin analogue, octreotide and cabergoline. radiation followed by pegvisomant therapy titrated up in dose to 20 mg/day led to a marked reduction in GH secretion and normalization of IGF-I, and to growth arrest and improvement of well-being. CONCLUSIONS: We suggest that treatment in pituitary gigantism with pegvisomant is safe and may normalize IGF-I levels and effectively stop growing.- - - - - - - - - - ranking = 0.00040637731216232keywords = nerve (Clic here for more details about this article) |
4/8. Endocrine function in sclerosteosis.Sclerosteosis is a rare autosomal recessive condition which is characterized by excessive skeletal overgrowth, distortion of the facies, cranial nerve abnormalities and raised intracranial pressure. syndactyly and digital malformation are associated features. Radiological examination reveals thickened sclerotic bone maximally involving the skull, including the pituitary fossa. Sclerosis and hyperostosis are present throughout the skeleton. Biochemical and endocrine tests were carred out on 3 patients with sclerosteosis in an attempt to detect any dysfunction of calcium regulation of the pituitary. Results revealed no abnormality of basal parathyroid or calcitonin secretion. Histological examination revealed quantitatively increased bone resorption in comparison with normal subjects, although the pattern resembled osteosclerosis. Regulation of growth hormone, adrenocorticotrophin, gonadotrophin and thyrotrophin function were intact. We conclude that pituitary function and calcium 'homeostasis' are normal in this disorder.- - - - - - - - - - ranking = 0.00040637731216232keywords = nerve (Clic here for more details about this article) |
5/8. gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.cerebrospinal fluid aminoacid analysis in a girl with severe psychomotor retardation, hypotonia, hyperreflexia and growth acceleration showed highly increased levels of free gamma-aminobutyric acid (4.8 mumol/l; range in twenty controls 0.04-0.12, median 0.08), homocarnosine, a dipeptide of gamma-aminobutyric acid and histidine (23.4 mumol/l; control range 4.0-8.7, median 7.6) and of beta-alanine, an alternative substrate for gamma-aminobutyric acid-transaminase (0.48 mumol/l; control range 0.02-0.06, median 0.05). liver gamma-aminobutyric acid-transaminase activity was deficient (0.07 mumol/mg protein h; range in ten controls 0.31-0.69, median 0.38). fasting plasma growth hormone levels were increased (7.9-38.4 ng/ml; nl less than 5). brain evoked responses were suggestive of leukodystrophy. A brother of this patient, showing a similar clinical picture, had died at one year. Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be the first report of gamma-aminobutyric acid-transaminase deficiency.- - - - - - - - - - ranking = 0.0078443314405062keywords = median (Clic here for more details about this article) |
6/8. Radiologic case study. Macrodystrophia lipomatosa.Macrodystrophia lipomatosa is a rare form of gigantism involving an extremity consisting of predominately fibroadipose tissue. Radiographically, it appears as hypertrophy of soft tissues and bone. CT and MR scanning delineate the tissues involved and are virtually diagnostic, demonstrating the predominantly adipose component as well as the overgrowth of the bones, nerves, and vessels also involved.- - - - - - - - - - ranking = 0.00040637731216232keywords = nerve (Clic here for more details about this article) |
7/8. Nervous lesions in a case of local gigantism.A case of local gigantism of the thumb was studied by light and electron microscopy. In the lesion, proliferation of fibroadipose tissue and typical alterations of the nerves were found. The alterations in the nerve were isolated hypertrophy of the perineural cells. The relation of the changes to other peripheral nerve tumours especially in neurofibromatosis, is discussed.- - - - - - - - - - ranking = 0.0012191319364869keywords = nerve (Clic here for more details about this article) |
8/8. gigantism of the foot: our experience in seven cases.We report our experience in seven patients with congenital gigantism of the foot with the following diagnoses: neurofibromatosis (two), fibrolipomatosis (two), proteus syndrome (two), and idiopathic localized gigantism (one). Our purpose is to introduce a new classification of foot gigantism, based on the concept of "neuroinduction." In our experience, intraoperative examination and subsequent histologic examination show consistently pathologic findings in the plantar nerve and its terminal branches in the foot affected by gigantism. Limited surgical treatment was used in five patients. To prevent forefoot enlargement and recurrence of deformity, we suggest complete ray resection. We evaluated our results using radiographs, functional status, and cosmetic considerations.- - - - - - - - - - ranking = 0.00040637731216232keywords = nerve (Clic here for more details about this article) |