Cases reported "Syndrome"

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1/74. Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: a new hereditary renal tubular-pituitary syndrome?

    Gitelman disease was diagnosed in two unrelated children with hypokalemic metabolic alkalosis and growth failure (a boy and a girl aged 7 mo and 9.5 y, respectively, at clinical presentation) on the basis of mutations detected in the gene encoding the thiazide-sensitive NaCl cotransporter of the distal convoluted tubule. GH deficiency was demonstrated by specific diagnostic tests in both children. Hypertonic saline infusion tests showed a partial vasopressin deficiency in the girl and delayed secretion of this hormone in the boy. magnetic resonance imaging revealed an empty sella in both cases. Up to now, hypomagnesemia and hypocalciuria have been considered obligatory criteria for the diagnosis of Gitelman disease; however, our two patients had hypomagnesemia and hypocalciuria in less than half the determinations. GH replacement treatment was associated with a good clinical response in both children. It appears that these cases represent a new phenotype, not previously described in Gitelman disease, and that the entity may be considered a new complex hereditary renal tubular-pituitary syndrome.
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keywords = sella
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2/74. pallister-hall syndrome: clinical and MR features.

    A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of pallister-hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling.
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ranking = 0.4
keywords = sella
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3/74. clinical conference I. Calvarium and cranial base in Apert's syndrome: an autopsy report.

    A post-mortem examination of a 22-month-old boy with Apert's syndrome is reported. A linear coronal craniectomy performed at 11 months of age had fused completely in spite of the insertion of polyethylene film between the bony edges. Furthermore, progressive synostosis of other cranial sutures was observed. Histological examination of the cranial base showed that the sphenofrontal suture was fused and that the entire cerebral surface, including the sella turcica, was characterized by bone resorption. The sphenooccipital synchondrosis was extremely wide and abnormally shaped, and the chondral growth activity seemed diminished. It was concluded that the patient exhibited primary as well as secondary growth distrubances in the calvarium and cranial base. The premature synostosis of the coronal and sphenofrontal sutures and the anomaly of the sphenooccipital synchondrosis were interpreted as primary defects. The altered shape of the calvarium and the marked resorption and shortening of the cranial base were considered secondary changes. Furthermore, the investigation indicated that the conventional linear coronal craniectomy cannot be expected to improve the craniofacial growth pattern in patients with Apert syndrome. Alternative surgical procedures were suggested.
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ranking = 1.2404458890593
keywords = sella turcica, turcica, sella
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4/74. Transient cheiro-oral syndrome due to a ruptured intracranial dermoid cyst.

    We present here a case of episodic, pure cheiro-oral syndrome caused by a ruptured intracranial dermoid cyst. Cranial magnetic resonance imaging (MRI) using the fat-suppression method revealed a fatty mass lesion in the subarachnoid space of the left parasellar region and multiple lipid droplets in the subarachnoid space over the left perisylvian area. Although no evidence for it pathogenesis was obtained, the patient's cheiro-oral syndrome could have resulted from a transient vasospasm around the left ventral posterior thalamic nucleus or postcentral gyrus.
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ranking = 0.2
keywords = sella
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5/74. A newly recognized syndrome of skeletal dysplasia with opalescent and rootless teeth.

    A Thai girl with skeletal dysplasia and dental anomalies was seen. Her anomalies consisted of disproportionately short stature, short neck, broad and depressed nasal bridge, broad chest in the anteroposterior dimension, kyphosis, widely spaced nipples, and protruded abdomen. Radiographic testing indicated that she had a large sella turcica, platyspondyly, hypoplastic acetabulum, and a small body of mandible. Both her deciduous and permanent teeth were equally opalescent, and most were rootless, with root development of the mandibular teeth more severely affected. Some maxillary roots were extremely short and tapered. Hypodontia was also observed. These findings represent a unique and hitherto undescribed syndrome of skeletal dysplasia with concomitant dental anomalies.
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ranking = 1.2404458890593
keywords = sella turcica, turcica, sella
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6/74. Pituitary adenomas of adolescents.

    A review of four cases of chromophobe adenomas in adolescents suggests that extracapsular extension with invasion of parasellar structures is more common in this age group than in adults. A syndrome of adolescent obesity, oculomotor palsies, and plain x-ray changes of the sella characterizes this group.
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ranking = 0.4
keywords = sella
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7/74. Corticotroph cell adenoma without typical manifestations of Cushing's disease presenting with cavernous sinus syndrome following pituitary apoplexy.

    This report presents a unique case of corticotroph cell adenoma in a 30-year-old man without acromegaly or features typical of Cushing's disease, who developed cavernous sinus syndrome following pituitary apoplexy. magnetic resonance imaging revealed a large intrasellar/suprasellar mass with pituitary hemorrhage and extension of a hematoma to the anterior base of the skull. Urgent transnasal pituitary surgery revealed an acidophilic pituitary adenoma, with immunoreactivity for ACTH and GH and expression of proopiomelanocortin (POMC) and GH messenger ribonucleic acid (mRNA) demonstrated by in situ hybridization. To our knowledge, a silent corticotroph cell adenoma with GH production has never been reported. This type of adenoma may potentially enlarge and develop tumoral hemorrhage because it is free of endocrinological symptoms.
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ranking = 0.4
keywords = sella
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8/74. pallister-hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism.

    The pallister-hall syndrome is characterised by a spectrum of anomalies including congenital hypothalamic "hamartoblastoma" hypopituitarism, imperforate anus, polydactyly and various visceral anomalies. Rare familial cases with an autosomal dominant inheritance pattern with variable expressivity have been reported. Cases of more mildly affected individuals with pallister-hall syndrome have been described, including cases of asymptomatic individuals. We report a case of pallister-hall syndrome with microphallus and without growth hormone deficiency that has been followed successfully for two years. The patient presented postaxial polydactyly of hands, dysplasic nails, imperforate anus, small penis, scrotum bifidum with very thin urethra, bifid epiglottis and a bilateral simian crease. There was vesico-ureteral-reflux, insertional hexadactyly of the left hand and two Y shaped metacarpal with six fingers at the right hand. brain MR imaging revealed a large sellar and suprasellar mass. A perineal anorectoplasty and a vesicostomy were performed. Laryngeal dyspnea appeared when he was 13 months old. bronchoscopy revealed anterior synechia of vocal cords with cricoidian stenosis. A tracheostomy was performed. Mental development was normal. No mutation of the zinc finger transcription factor gene, GLI 3 was detected.
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ranking = 0.4
keywords = sella
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9/74. empty sella syndrome. Sequela of the spontaneous remission of acromegaly.

    Untreated acromegaly is usually a progressive disorder resulting in early death from cardiovascular or pulmonary complications. Although spontaneous remission of the metabolic features of acromegaly is not uncommon, its correlation with return to truly normal serum growth hormone concentrations is not routinely documented. This study reports a patient with the empty sella syndrome occurring as a sequel to the spontaneous remission of acromegaly. This association, as well as the preservation of normal anterior-pituitary function, suggests that selective tumor infarction resulted in the "empty sella" and cessation of active acromegaly.
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ranking = 1.2
keywords = sella
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10/74. Primary empty sella syndrome and amenorrhea.

    The empty sella syndrome is defined anatomically and radiologically. A case report of an amenorrheic patient who was diagnosed as having the primary empty sella syndrome is presented. Its pathogenesis, clinical profile, and endocrine relationships are discussed. Specific reference is directed toward the capability of the empty sella syndrome to produce pituitary impairment and possibly amenorrhea.
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ranking = 1.4
keywords = sella
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