Neurofibromatosis in Infancy Presenting With Congenital Stridor

Pleasure, Jeanette R.; Geller, Stephen A.

doi:10.1001/archpedi.1967.02090180150018

Cited by 5 publications

(2 citation statements)

References 8 publications

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“…1,3 The majority of children who have inherited NF-1 from an affected parent can be identified in infancy because the diagnosis requires only one clinical sign in addition to the positive family history. 3 Perinatal NF-1 may present clinically in extraordinary ways: congenital stridor resulting from a laryngeal tumor 11,36 ; airway obstruction from tracheal compression 14,22 ; as part of a ''congenital neurocristopathy'' occurring together with neuroblastoma, Schwannoma, and plexiform neurofibroma 6,10,12,13,15,22,28 (Fig. 2); congenital buphthalmos, proptosis, and glaucoma secondary to orbital NFA 17,18,20,22,26,27,30,33,35 ; progressive respiratory compromise resulting from rapidly growing NFAs in the tongue, oral cavity, neck 14,19,22,26 ; a vascular malformation 34 ; fetal hydrops following compression of neck vessels or vena cava by tumor.…”

Section: Discussionmentioning

confidence: 99%

Perinatal Neurofibromatosis: Two Case Reports and Review of the Literature

Isaacs

2009

Amer J Perinatol

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Neurofibromatosis-1 (NF-1) is an autosomal-dominant genetic disorder with many different manifestations. Some may have evidence of the disease at birth. A 66-year (1942 to 2008) retrospective review of 36 patients including 7 fetuses and 29 neonates with NF-1 was performed. Only patients with NF-1 lesions detected before birth by imaging or noted in the first month of life were entered into the review. There was a strongly positive family history of the disease of 70%. The most common presenting findings in the fetus were hydrops, macrocephaly, and thickened neck soft tissues and those in the neonate were café au lait macules, skin nodules, and buphthalmos. Survivors developed serious sequelae (e.g., progressive growth of neurofibromas within the neck and mediastinum leading to increasing airway obstruction and death; an enlarging, proptotic, and glaucomatous eye; and occurrence of brain and malignant nerve sheath tumors). Congenital generalized (disseminated) neurofibromatosis was associated with a poor prognosis, with a mortality rate of 92%. Survival rates for patients detected before and after birth were 28% and 62%, respectively. The overall survival was 20/36 or 56%.

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Section: Discussionmentioning

confidence: 99%

Perinatal Neurofibromatosis: Two Case Reports and Review of the Literature

Isaacs

2009

Amer J Perinatol

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“…Im vorliegenden Fall handelt es sich urn einen familiären generalisierten Morbus Recklinghausen mit diffuser Larynxbeteiligung (Aryknorpel, aryepiglottische Falte, Taschenband). Während in der Weltliteratur Berichte eine Larynxbeteiligung bei Neurofibromatose nicht ungewohnlich sind (3,4,5,10,14,16,17,20,22,24), werden nur einige wenige Fälle einer familiãren Form des Morbus Recklinghausen mit Larynxbeteiligung erwähnt (5,10,13,17,22,24). Dies kommt daher, daabgesehen vom autosomal-dominanten Erbgang mit unterschiedlicher Genpenetranz -in der Vielzahl der Fälle genetische Neumutationen (6) als Ursache der Neurofibromatose zu sehen sind.…”

Section: Diskussionunclassified

Larynx-Obstruktion bei familiärem Morbus Recklinghausen

Heppt¹,

Adler²,

Waldecker-Herrmann³

1991

Laryngo-Rhino-Otol

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Laryngeal involvement in pediatric neurofibromatosis: a case report and review of the literature

Masip¹,

Esteban²,

Alberto³

et al. 1996

Pediatr Radiol

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A case of neurofibroma of the larynx occurring in generalized neurofibromatosis (von Recklinghausen's disease) is presented, and the previously reported pediatric cases are reviewed. Laryngeal involvement in neurofibromatosis is rare and the predominant signs and symptoms include dyspnea, stridor, loss or change of voice and dysphagia. Problems posed related to diagnosis, management and course of this infrequent laryngeal localization are discussed.

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Neurofibromatosis in Infancy Presenting With Congenital Stridor

Cited by 5 publications

References 8 publications

Perinatal Neurofibromatosis: Two Case Reports and Review of the Literature

Perinatal Neurofibromatosis: Two Case Reports and Review of the Literature

Larynx-Obstruktion bei familiärem Morbus Recklinghausen

Laryngeal involvement in pediatric neurofibromatosis: a case report and review of the literature

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