Biomaterial Database

Congenital disseminated neurofibromatosis: a "benign" diagnosis with malignant prognosis. 1987

E Freud, and A J Mares, and J Bar-Ziv, and Y Barki, and A Zaretsky

Department of Paediatric Surgery, Soroka University Hospital, Faculty of Health Sciences, Ben-Gurion Negev, Beer-Sheva, Israel.

A neonate with congenital disseminated neurofibromatosis involving skin, subcutaneous tissues retropharyngeal, retroperitoneal and urinary bladder is presented. The massive presentation precluded radical surgical approach. This seems to be the first report of congenital widely disseminated neonatal neurofibromatosis in the English literature.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn 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
D001749	Urinary Bladder Neoplasms	Tumors or cancer of the URINARY BLADDER.	Bladder Cancer,Bladder Neoplasms,Cancer of Bladder,Bladder Tumors,Cancer of the Bladder,Malignant Tumor of Urinary Bladder,Neoplasms, Bladder,Urinary Bladder Cancer,Bladder Cancers,Bladder Neoplasm,Bladder Tumor,Cancer, Bladder,Cancer, Urinary Bladder,Neoplasm, Bladder,Neoplasm, Urinary Bladder,Tumor, Bladder,Tumors, Bladder,Urinary Bladder Neoplasm
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000008	Abdominal Neoplasms	New abnormal growth of tissue in the ABDOMEN.	Abdominal Neoplasm,Neoplasm, Abdominal,Neoplasms, Abdominal
D012983	Soft Tissue Neoplasms	Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc.	Neoplasm, Soft Tissue,Neoplasms, Soft Tissue,Soft Tissue Neoplasm
D014463	Ultrasonography	The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz.	Echography,Echotomography,Echotomography, Computer,Sonography, Medical,Tomography, Ultrasonic,Ultrasonic Diagnosis,Ultrasonic Imaging,Ultrasonographic Imaging,Computer Echotomography,Diagnosis, Ultrasonic,Diagnostic Ultrasound,Ultrasonic Tomography,Ultrasound Imaging,Diagnoses, Ultrasonic,Diagnostic Ultrasounds,Imaging, Ultrasonic,Imaging, Ultrasonographic,Imaging, Ultrasound,Imagings, Ultrasonographic,Imagings, Ultrasound,Medical Sonography,Ultrasonic Diagnoses,Ultrasonographic Imagings,Ultrasound, Diagnostic,Ultrasounds, Diagnostic

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