Results 251 to 260 of about 34,220 (292)
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Journal of Pediatric Ophthalmology & Strabismus, 1997
ABSTRACT Purpose: To report two infants with tuberous sclerosis who initially were considered to have retinoblastoma. Patients and Methods: An 8-day-old infant was referred with small tumors in the posterior poles of both eyes. A left microphthalmos with ciliochoroidal coloboma was present.
P B, Mullaney +3 more
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ABSTRACT Purpose: To report two infants with tuberous sclerosis who initially were considered to have retinoblastoma. Patients and Methods: An 8-day-old infant was referred with small tumors in the posterior poles of both eyes. A left microphthalmos with ciliochoroidal coloboma was present.
P B, Mullaney +3 more
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Seminars in Pediatric Neurology, 2021
Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration producing hamartomas-benign tumors or malignant cancers affecting the skin and brain ...
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Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration producing hamartomas-benign tumors or malignant cancers affecting the skin and brain ...
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Tuberous sclerosis is characterized by a classic triad: seizures, mental retardation, and cutaneous angiofibromas.
Vlad, Diaconita +5 more
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Vlad, Diaconita +5 more
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SPONGIONEUROBLASTOMA AND TUBEROUS SCLEROSIS
Journal of Neuropathology and Experimental Neurology, 1954In a series of remarkable publications, Globus (1, 2, 3, 4, 5, 6) investigated the histology of primary cerebral neoplasms of neuro-ectodermal origin composed of both neural and glial elements, and established the diagnostic groupings of glioneuromas and spongioneuroblastomas.
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The Tuberous Sclerosis Complex
Scottish Medical Journal, 1968A typical case of tuberous sclerosis is described with the post-mortem findings. A suggestion is made to aid in the recognition of papilloedema.
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Tuberous Sclerosis: from Tubers to mTOR
Annals of Human Genetics, 2003SummaryTuberous sclerosis (TSC) is an autosomal dominant hamartoma syndrome whose causative genes (TSC1andTSC2) were identified 5 and 9 years ago respectively. Their encoded proteins are large, and apart from a strong binding interaction with each other, relatively little was known about their biochemical function.
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Journal of Autism and Developmental Disorders, 1998
Autism and pervasive developmental disorders (PDD) are common in tuberous sclerosis (TSC). The frequency of autism is about 25%, with 40-45% of TSC cases meeting criteria for autism or PDD. Among autistic populations, the frequency of TSC is 1-4% and perhaps as high as 8-14% among the subgroup of autistic individuals with a seizure disorder.
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Autism and pervasive developmental disorders (PDD) are common in tuberous sclerosis (TSC). The frequency of autism is about 25%, with 40-45% of TSC cases meeting criteria for autism or PDD. Among autistic populations, the frequency of TSC is 1-4% and perhaps as high as 8-14% among the subgroup of autistic individuals with a seizure disorder.
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Journal of the American Podiatric Medical Association, 1983
D W, Hugar, R W, Rozelle
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D W, Hugar, R W, Rozelle
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Tuberous Sclerosis and Epilepsy
American Journal of Electroneurodiagnostic Technology, 2011Tuberous Sclerosis Complex (TSC) is an inherited disorder resulting from mutations in one of two tumor suppressor genes: TSC1 (hamartin) and TSC2 (tuberin). Hamartin and tuberin, the protein products of TSC1 and TSC2, form a functional protein complex in the mTOR pathway that controls cell growth and proliferation.
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Rhinophyma in Tuberous Sclerosis
Otolaryngology–Head and Neck Surgery, 1978Search of the literature thus far indicates no prior description of rhinophyma occuring in tuberous sclerosis. There have been numerous reports of the usual skin lesion, adenoma sebaceum, together with the associated manifestations of severe mental retardation and convulsive seizures.In a 27‐year‐old woman, full‐blown, severely deforming rhinophyma had
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