1/22. 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 = malformation (Clic here for more details about this article) |
2/22. Long-term treatment with growth hormone improves final height in a patient with pallister-hall syndrome.pallister-hall syndrome is a disorder of development consisting of hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations. This disorder is inherited as an autosomal dominant trait and is caused by mutations of the GLI3 gene encoding a zinc finger transcription factor. We describe a case of pallister-hall syndrome with growth hormone neurosecretory dysfunction, successfully treated with growth hormone until attainment of final height. We conclude that children with pallister-hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth hormone.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
3/22. The use of stereotactic radiosurgery to treat intractable childhood partial epilepsy.PURPOSE: Although conventional surgery is presently used to treat seizures of temporolimbic and neocortical origin, deep-seated lesions are often associated with morbidity. Stereotactic radiosurgery is a noninvasive procedure that effectively treats patients with vascular malformations and brain tumors, but its efficacy for epileptogenic foci is limited, especially in children. methods: Between 1995 and 1999, four candidates who had medically uncontrolled seizures and localized seizure foci were selected for stereotactic radiosurgery, with a mean age of 9.75 years at the time of surgery (range, 4-17 years). Seizure foci were identified on the basis of ictal and interictal video-EEG. Magnetic resonance (MR) images were obtained before and after surgery. Ictal single-photon emission computed tomography (SPECT) was performed by using stabilized hexamethyl-propyleneamine oxime (HMPAO; 300 microcuries/kg) with early injection after electrographic ictal onset. The clinical features of the patients are given. All radiosurgical procedures were performed with the gamma knife unit with the Leksell stereotactic frame, stereotactic MRI imaging, and the Gamma Plan workstation. Seizure outcome was scored according to Engel's classification. RESULTS: Two patients had hypothalamic hamartoma (HH), and two had neocortical epilepsy. At mean follow-up of 39.2 months (range, 26-69 months), two patients were seizure free, one with a HH and one with a suggestive developmental tumor in the insular cortex by MRI findings. The other patient with HH had 90% reduction of seizures. One patient with a widespread seizure focus that involved the motor strip was unimproved. The two patients with HH also exhibited markedly improved neurobehavioral status after surgery. There were no significant complications of radiosurgical therapy. CONCLUSIONS: Our findings suggest that gamma knife surgery is a potentially valuable treatment modality for children with medically intractable epilepsy due to a well-localized seizure focus that is difficult to excise by conventional techniques or for whom they are deemed unsuitable. More widespread application in childhood epilepsy should be investigated in larger series.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
4/22. 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 = 3.8655218072576keywords = nervous system (Clic here for more details about this article) |
5/22. Significance of bifid epiglottis.Bifid epiglottis is a rare anomaly, which is heterogeneous and is often associated with other anomalies, particularly polydactyly. It has been reported in 40% of patients with pallister-hall syndrome and rarely in other syndromes. We report two brothers with bifid epiglottis who also have features suggestive of bardet-biedl syndrome. We also review the features seen in 22 patients reported in the literature with bifid epiglottis. No patient had bifid epiglottis as an isolated anomaly. Other malformations include clefts, micropenis, renal abnormalities, anal malformations, hypospadias, hypothalamic hamartomas, hypopituitarism, heart defects, and Hirschprung disease. Bifid epiglottis may be an under-recognized feature of bardet-biedl syndrome and should be considered in these patients, particularly if there are airway symptoms. Many of the anomalies associated with bifid epiglottis have potentially serious consequences and thus, a thorough evaluation of the patient with bifid epiglottis is warranted.- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
6/22. Emergency transcallosal resection of hypothalamic hamartoma for "status gelasticus".Hypothalamic hamartomas are rare developmental malformations of the inferior hypothalamus. Typically they result in symptomatic, refractory mixed seizure disorder with trademark gelastic or laughing seizures. We present a 30-month-old boy with a hypothalamic hamartoma and a nearly 2-month history of near-continuous gelastic seizures, which we have labeled "status gelasticus." The seizures were refractory to multiple antiepileptic drugs (AEDs), and emergency transcallosal resection of the hypothalamic hamartoma was performed with resultant near-immediate cessation of the seizures. At 12-month follow-up, the patient was averaging one brief gelastic seizure every 2 weeks, with a longest seizure-free period of 2 months.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
7/22. MRI in multifocal eosinophilic granuloma: staging disease and monitoring response to therapy.Multifocal eosinophilic granuloma is part of the spectrum of histiocytosis X, in which the unifying feature is the proliferation and infiltration of histiocytes. central nervous system (CNS) involvement has a predilection for the hypothalamic nuclei, and these infiltrates appear as high signal foci on T2-weighted magnetic resonance (MR) images that completely resolve after effective chemotherapy. Intradiploic skull lesions are well delineated with MRI, and the relation to underlying brain may be confidently assessed. MRI is the procedure of choice for staging multifocal eosinophilic granuloma in the skull and CNS, as well as for monitoring response to therapy.- - - - - - - - - - ranking = 3.8655218072576keywords = nervous system (Clic here for more details about this article) |
8/22. MR imaging of histiocytosis X in the central nervous system.The magnetic resonance imaging features of two cases of histiocytosis X in the hypothalamus and one in the cerebral hemispheres are described. The lesions were best seen with spin-echo technique using a long repetition time (TR = 1580 msec) and long echo time (TE = 80 msec). Sagittal images provided the best anatomicotopographic evaluation of the lesions. Comparison with computed tomography with and without contrast enhancement showed an advantage with magnetic resonance imaging.- - - - - - - - - - ranking = 15.462087229031keywords = nervous system (Clic here for more details about this article) |
9/22. Primary idiopathic hypothalamic hypothyroidism. Report of four cases.One man and three women with hypothalamic hypothyroidism are described; they had isolated thyrotropin-releasing hormone deficiency, otherwise normal pituitary function, and no identifiable central nervous system anatomic abnormality. serum thyrotropin levels were low and thyrotropic response to thyrotropin-releasing hormone was uniformly present, consistent with a hypothalamic cause of hypothyroidism. In two patients, hypothyroidism was transient and spontaneously resolved; in one of them, it was recurrent. Because hypothalamic hypothyroidism is mild and potentially reversible, it is suggested that such patients have follow-up evaluation before therapy is initiated in order to avoid unnecessary treatment.- - - - - - - - - - ranking = 3.8655218072576keywords = nervous system (Clic here for more details about this article) |
10/22. Hypothalamic/pituitary sarcoidosis.A patient is described with combined pulmonary and central nervous system sarcoidosis, including hypothalamic/pituitary involvement. Formal pituitary challenge testing was performed before steroid treatment and again eight months later. diabetes insipidus, hyperprolactinemia, and anterior pituitary hormone deficiencies were demonstrated and did not improve significantly in response to steroids. Hypothalamic/pituitary involvement is a rare complication of sarcoidosis, the incidence of which may be under-reported.- - - - - - - - - - ranking = 3.8655218072576keywords = nervous system (Clic here for more details about this article) |
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