1/40. Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant?We report on a 20-month-old girl with hypothalamic hamartoma, left cerebral atrophy, tongue nodules, oral frenula, micrognathia, hypoplasia of the left ulna, the fibulae, and right tibia, polysyndactyly of the hands and feet, vagino-cystic drainage with hydrometrocolpos, megaloureters, and hydronephrosis, agenesis of urethra, complex partial seizures, and central precocious puberty. The differential diagnosis is discussed. We conclude that the malformation complex in this girl is an oral-facial-digital syndrome, but is different from any of the 11 known subtypes.- - - - - - - - - - ranking = 1keywords = cyst (Clic here for more details about this article) |
2/40. hamartoma of the suprasellar cistern in a 5-year-old girl.A 5-year-old girl with precocious puberty secondary to a suprasellar hamartoma is presented. magnetic resonance imaging (MRI) revealed a lesion without attachment to the tuber cinereum or the mamillary bodies. Total resection of the tumour was performed.- - - - - - - - - - ranking = 122.62329077622keywords = suprasellar (Clic here for more details about this article) |
3/40. 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.- - - - - - - - - - ranking = 24.524658155244keywords = suprasellar (Clic here for more details about this article) |
4/40. Spontaneously regressing infundibular cyst: a case report.A 74-year-old man reported headaches and blurring of vision for 1 month. MRI showed a nonenhancing infundibular cyst. Neurologic findings, blood and cerebrospinal fluid examinations, and chest and abdominal CT were all normal. MRI 4 months later showed no change. The patient was without any medication other than simple analgesics. One year later, the stalk had returned to its normal size and configuration on MRI.- - - - - - - - - - ranking = 1keywords = cyst (Clic here for more details about this article) |
5/40. Hypothalamic hamartoma associated with an arachnoid cyst.A hypothalamic hamartoma associated with an arachnoid cyst in an 8-year-old boy is reported herein. He presented with precocious puberty, and neuroimaging studies demonstrated a solid mass in the prepontine cistern and a huge arachnoid cyst in the left cranial fossa. The mass appeared isointense to the surrounding cerebral cortex on T1-weighted magnetic resonance images, hyperintense on T2-weighted images, and was not enhanced after administration of Gd-DTPA. The patient underwent a left frontotemporal craniotomy and a cyst-peritoneal shunt was inserted. Histological features of the cyst wall and the mass were characteristic of an arachnoid cyst and hamartoma, respectively. While a hypothalamic hamartoma associated with an arachnoid cyst is rare, such a case may help clarify the geneses of both anomalous lesions.- - - - - - - - - - ranking = 2keywords = cyst (Clic here for more details about this article) |
6/40. 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.- - - - - - - - - - ranking = 24.524658155244keywords = suprasellar (Clic here for more details about this article) |
7/40. Gelastic seizure with tectal tumor, lobar holoprosencephaly, and subependymal nodules: clinical report.Gelastic seizures are characterized by inappropriate, stereotyped laughter and are often first recognized when other epileptic manifestations occur. They are frequently associated with hypothalamic hamartomas. central nervous system developmental abnormalities are rarely reported with gelastic seizures. There is only one case report of gelastic seizure caused by holoprosencephaly. We report a 2-year-old girl with multiple brain structural abnormalities including tectal tumor (possibly hamartoma), multiple subependymal nodules, and holoprosencephaly. She developed seizures during the newborn period and presented with gelastic seizure and simple partial seizure at 3 months of age.- - - - - - - - - - ranking = 0.56471880200923keywords = nervous system (Clic here for more details about this article) |
8/40. triiodothyronine supplementation for hypothalamic obesity.patients with suprasellar lesions develop profound hypothalamic obesity and listlessness with no effective treatment. We added triiodothyronine (T(3)) supplementation in 3 such patients and present their response. All had previous nutritional counseling without benefit. All were treated for diabetes insipidus (DI) and hypopituitarism; serum free thyroxine (T(4)) level was normal. A 24-year-old woman (pineal tumor and astrocytoma) had weight gain (4.7 kg/yr for 3 years), cold intolerance, fatigue, dry skin, and constipation; after T(3), she lost 14 kg over 27 months and reported overall improvement. Her bone mineral density also improved. A 10.6-year-old boy (optic glioma) was gaining 6 kg/yr for 4 years; after T(3) supplement, he lost 4.3 kg over 11 months. A 12-year-old girl (mixed germ cell tumor) had weight gain (8.3 kg/yr for 3 years) and listlessness; after T(3), she lost 8.1 kg over 16 months and had improved alertness. All patients were asymptomatic despite supraphysiologic T(3) levels. We suggest that T(3) may serve as a simple and effective supplement, which can promote weight loss and improve the well being of these patients with hypothalamic obesity.- - - - - - - - - - ranking = 24.524658155244keywords = suprasellar (Clic here for more details about this article) |
9/40. Histologic diagnosis and management of hypothalamic tumors in children by the use of newly developed flexible neuroendoscopes.Hypothalamic tumors are difficult to treat surgically, and chemotherapy and/or radiation are given based on the histology and the neuraxis staging of the tumors. We have developed flexible neuroendoscopes (Yamadori-type 8 and 9) which have excellent image quality and maneuverability as well as capabilities for biopsy and electrocoagulative debulking of the cystic tumors. We report the successful application of the neuroendoscopes to 10 children with hypothalamic tumors diagnosed with computed tomography or magnetic resonance imaging. Histologic diagnosis was obtained from all the patients. Cystic tumors were evacuated, hydrocephalus managed with endoscopic operations, and some benign tumors were removed totally. The relatively non-invasive approach reported here would represent a significant technical advance in the diagnosis and management of hypothalamic and other ventricular tumors.- - - - - - - - - - ranking = 0.2keywords = cyst (Clic here for more details about this article) |
10/40. Suprasellar germ cell tumor presenting as diencephalic syndrome and precocious puberty.We report a 7-9/12 year-old boy presenting with precocious puberty and diencephalic syndrome. On investigation a suprasellar germ cell tumor was found. This is an uncommon tumor causing this rare syndrome and an unusual presentation.- - - - - - - - - - ranking = 24.524658155244keywords = suprasellar (Clic here for more details about this article) |
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