Biomaterial Database

[Neurofibromatosis Recklinghausen with cerebral manifestation and deficiency of pituitary hormones (author's transl)]. 1978

H Frisch, and E Pichler, and A Pollak, and E Schober, and F Waldhauaer

In a 6 year old boy a spongioblastoma of the optic chiasm was the first manifestation of a neurofibromatosis Recklinghausen. Further characteristic symptoms developed in the following years. This central type of neurofibromatosis was combined with a decreased reserve of the hypophyseal hormones ACTH, growth hormone and FSH.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009456	Neurofibromatosis 1	An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).	Peripheral Neurofibromatosis,Recklinghausen Disease of Nerve,von Recklinghausen Disease,Cafe-au-Lait Spots with Pulmonic Stenosis,Molluscum Fibrosum,NF1 (Neurofibromatosis 1),Neurofibromatosis I,Neurofibromatosis Type 1,Neurofibromatosis Type I,Neurofibromatosis, Peripheral Type,Neurofibromatosis, Peripheral, NF 1,Neurofibromatosis, Peripheral, NF1,Neurofibromatosis, Type 1,Neurofibromatosis, Type I,Pulmonic Stenosis with Cafe-au-Lait Spots,Recklinghausen Disease, Nerve,Recklinghausen's Disease of Nerve,Recklinghausens Disease of Nerve,Watson Syndrome,von Recklinghausen's Disease,Cafe au Lait Spots with Pulmonic Stenosis,Neurofibromatoses, Peripheral,Neurofibromatoses, Type I,Neurofibromatosis, Peripheral,Peripheral Neurofibromatoses,Pulmonic Stenosis with Cafe au Lait Spots,Syndrome, Watson,Type 1 Neurofibromatosis,Type 1, Neurofibromatosis,Type I Neurofibromatoses,Type I, Neurofibromatosis,von Recklinghausens Disease
D009897	Optic Chiasm	The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes.	Chiasma Opticum,Optic Chiasma,Optic Decussation,Chiasm, Optic,Chiasma Opticums,Chiasma, Optic,Chiasmas, Optic,Chiasms, Optic,Decussation, Optic,Decussations, Optic,Optic Chiasmas,Optic Chiasms,Optic Decussations,Opticum, Chiasma,Opticums, Chiasma
D010900	Pituitary Diseases	Disorders involving either the ADENOHYPOPHYSIS or the NEUROHYPOPHYSIS. These diseases usually manifest as hypersecretion or hyposecretion of PITUITARY HORMONES. Neoplastic pituitary masses can also cause compression of the OPTIC CHIASM and other adjacent structures.	Adenohypophyseal Diseases,Hypophyseal Disorders,Neurohypophyseal Diseases,Anterior Pituitary Diseases,Pituitary Disorders,Pituitary Gland Diseases,Posterior Pituitary Diseases,Adenohypophyseal Disease,Anterior Pituitary Disease,Disease, Adenohypophyseal,Disease, Anterior Pituitary,Disease, Neurohypophyseal,Disease, Pituitary,Disease, Pituitary Gland,Disease, Posterior Pituitary,Diseases, Adenohypophyseal,Diseases, Anterior Pituitary,Diseases, Neurohypophyseal,Diseases, Pituitary,Diseases, Pituitary Gland,Diseases, Posterior Pituitary,Disorder, Hypophyseal,Disorder, Pituitary,Disorders, Hypophyseal,Disorders, Pituitary,Hypophyseal Disorder,Neurohypophyseal Disease,Pituitary Disease,Pituitary Disease, Anterior,Pituitary Disease, Posterior,Pituitary Diseases, Anterior,Pituitary Diseases, Posterior,Pituitary Disorder,Pituitary Gland Disease,Posterior Pituitary Disease
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D003390	Cranial Nerve Neoplasms	Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves.	Cranial Neuroma, Benign,Benign Cranial Nerve Neoplasms,Benign Cranial Nerve Tumors,Cranial Nerve Neoplasms, Benign,Cranial Nerve Neoplasms, Malignant,Cranial Nerve Tumors, Benign,Cranial Nerve Tumors, Malignant,Malignant Cranial Nerve Neoplasms,Malignant Cranial Nerve Tumors,Neoplasms, Cranial Nerve,Neoplasms, Cranial Nerve, Benign,Neoplasms, Cranial Nerve, Malignant,Tumors, Cranial Nerve, Benign,Tumors, Cranial Nerve, Malignant,Benign Cranial Neuroma,Benign Cranial Neuromas,Cranial Nerve Neoplasm,Cranial Neuromas, Benign,Neoplasm, Cranial Nerve,Neuroma, Benign Cranial,Neuromas, Benign Cranial
D005640	Follicle Stimulating Hormone	A major gonadotropin secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Follicle-stimulating hormone stimulates GAMETOGENESIS and the supporting cells such as the ovarian GRANULOSA CELLS, the testicular SERTOLI CELLS, and LEYDIG CELLS. FSH consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the three pituitary glycoprotein hormones (TSH, LH, and FSH), but the beta subunit is unique and confers its biological specificity.	FSH (Follicle Stimulating Hormone),Follicle-Stimulating Hormone,Follitropin
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000324	Adrenocorticotropic Hormone	An anterior pituitary hormone that stimulates the ADRENAL CORTEX and its production of CORTICOSTEROIDS. ACTH is a 39-amino acid polypeptide of which the N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Upon further tissue-specific processing, ACTH can yield ALPHA-MSH and corticotrophin-like intermediate lobe peptide (CLIP).	ACTH,Adrenocorticotropin,Corticotropin,1-39 ACTH,ACTH (1-39),Adrenocorticotrophic Hormone,Corticotrophin,Corticotrophin (1-39),Corticotropin (1-39),Hormone, Adrenocorticotrophic,Hormone, Adrenocorticotropic
D001254	Astrocytoma	Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)	Astrocytoma, Subependymal Giant Cell,Glioma, Astrocytic,Oligoastrocytoma, Mixed,Pleomorphic Xanthoastrocytomas,Anaplastic Astrocytoma,Astrocytoma, Grade I,Astrocytoma, Grade II,Astrocytoma, Grade III,Astrocytoma, Protoplasmic,Astroglioma,Cerebral Astrocytoma,Childhood Cerebral Astrocytoma,Fibrillary Astrocytoma,Gemistocytic Astrocytoma,Intracranial Astrocytoma,Juvenile Pilocytic Astrocytoma,Pilocytic Astrocytoma,Subependymal Giant Cell Astrocytoma,Anaplastic Astrocytomas,Astrocytic Glioma,Astrocytic Gliomas,Astrocytoma, Anaplastic,Astrocytoma, Cerebral,Astrocytoma, Childhood Cerebral,Astrocytoma, Fibrillary,Astrocytoma, Gemistocytic,Astrocytoma, Intracranial,Astrocytoma, Juvenile Pilocytic,Astrocytoma, Pilocytic,Astrocytomas,Astrocytomas, Grade III,Astrogliomas,Cerebral Astrocytoma, Childhood,Cerebral Astrocytomas,Childhood Cerebral Astrocytomas,Fibrillary Astrocytomas,Gemistocytic Astrocytomas,Gliomas, Astrocytic,Grade I Astrocytoma,Grade I Astrocytomas,Grade II Astrocytoma,Grade II Astrocytomas,Grade III Astrocytoma,Grade III Astrocytomas,Intracranial Astrocytomas,Juvenile Pilocytic Astrocytomas,Mixed Oligoastrocytoma,Mixed Oligoastrocytomas,Pilocytic Astrocytoma, Juvenile,Pilocytic Astrocytomas,Pleomorphic Xanthoastrocytoma,Protoplasmic Astrocytoma,Protoplasmic Astrocytomas,Xanthoastrocytoma, Pleomorphic