Biomaterial Database

[Central nervous manifestations of neurofibromatosis in children (author's transl)]. 1977

W Andler, and K Roosen

Serious central nervous manifestation of neurofibromatosis have been reported in 11 children aged 1,5-12 years. According to the present literature we conclude: 1. Central nervous lesions of neurofibromatosis are common even in childhood. 2. About two thirds of these patients suffer from brain tumors. 3. The tumors involve the suprasellar region in many cases. 4. By this localisation endocrine manifestations, especially precocious puberty, are frequent.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
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
D009461	Neurologic Manifestations	Clinical signs and symptoms caused by nervous system injury or dysfunction.	Neurologic Deficits,Neurologic Signs and Symptoms,Focal Neurologic Deficits,Manifestations, Neurologic,Manifestations, Neurological,Neurologic Dysfunction,Neurologic Findings,Neurologic Manifestation,Neurologic Signs,Neurologic Symptoms,Neurological Manifestations,Deficit, Focal Neurologic,Deficit, Neurologic,Deficits, Focal Neurologic,Deficits, Neurologic,Dysfunction, Neurologic,Dysfunctions, Neurologic,Finding, Neurologic,Findings, Neurologic,Focal Neurologic Deficit,Manifestation, Neurologic,Manifestation, Neurological,Neurologic Deficit,Neurologic Deficit, Focal,Neurologic Deficits, Focal,Neurologic Dysfunctions,Neurologic Finding,Neurologic Sign,Neurologic Symptom,Neurological Manifestation,Sign, Neurologic,Signs, Neurologic,Symptom, Neurologic,Symptoms, Neurologic
D009896	Optic Atrophy	Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.	Atrophy, Optic
D011629	Puberty, Precocious	Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.	Familial Precocious Puberty,Idiopathic Sexual Precocity,Precocious Puberty,Precocious Puberty, Central,Precocious Puberty, Male Limited,Precocious Puberty, Male-Limited,Pubertas Praecox,Sexual Precocity,Testotoxicosis,Central Precocious Puberties,Central Precocious Puberty,Familial Precocious Puberties,Idiopathic Sexual Precocities,Male-Limited Precocious Puberties,Male-Limited Precocious Puberty,Praecox, Pubertas,Precocious Puberties,Precocious Puberties, Central,Precocious Puberties, Familial,Precocious Puberties, Male-Limited,Precocious Puberty, Familial,Precocities, Idiopathic Sexual,Precocities, Sexual,Precocity, Idiopathic Sexual,Precocity, Sexual,Puberties, Central Precocious,Puberties, Familial Precocious,Puberties, Male-Limited Precocious,Puberties, Precocious,Puberty, Central Precocious,Puberty, Familial Precocious,Puberty, Male-Limited Precocious,Sexual Precocities,Sexual Precocities, Idiopathic,Sexual Precocity, Idiopathic
D001827	Body Height	The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.	Body Heights,Height, Body,Heights, Body
D001932	Brain Neoplasms	Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.	Brain Cancer,Brain Metastases,Brain Tumors,Cancer of Brain,Malignant Primary Brain Tumors,Neoplasms, Intracranial,Benign Neoplasms, Brain,Brain Neoplasm, Primary,Brain Neoplasms, Benign,Brain Neoplasms, Malignant,Brain Neoplasms, Malignant, Primary,Brain Neoplasms, Primary Malignant,Brain Tumor, Primary,Brain Tumor, Recurrent,Cancer of the Brain,Intracranial Neoplasms,Malignant Neoplasms, Brain,Malignant Primary Brain Neoplasms,Neoplasms, Brain,Neoplasms, Brain, Benign,Neoplasms, Brain, Malignant,Neoplasms, Brain, Primary,Primary Brain Neoplasms,Primary Malignant Brain Neoplasms,Primary Malignant Brain Tumors,Benign Brain Neoplasm,Benign Brain Neoplasms,Benign Neoplasm, Brain,Brain Benign Neoplasm,Brain Benign Neoplasms,Brain Cancers,Brain Malignant Neoplasm,Brain Malignant Neoplasms,Brain Metastase,Brain Neoplasm,Brain Neoplasm, Benign,Brain Neoplasm, Malignant,Brain Neoplasms, Primary,Brain Tumor,Brain Tumors, Recurrent,Cancer, Brain,Intracranial Neoplasm,Malignant Brain Neoplasm,Malignant Brain Neoplasms,Malignant Neoplasm, Brain,Neoplasm, Brain,Neoplasm, Intracranial,Primary Brain Neoplasm,Primary Brain Tumor,Primary Brain Tumors,Recurrent Brain Tumor,Recurrent Brain Tumors,Tumor, Brain
D002493	Central Nervous System Diseases	Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord.	CNS Disease,Central Nervous System Disease,Central Nervous System Disorder,CNS Diseases,Central Nervous System Disorders
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children