Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children

DeBella, Kimberly; Poskitt, Kenneth J.; Szudek, Jacek; Friedman, Jan M.

doi:10.1212/wnl.54.8.1646

Cited by 122 publications

(77 citation statements)

References 20 publications

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“…6 The NIH diagnostic criteria is highly sensitive and specific for the adult population, but only about half the children with NF1 and an unknown family history meet the NIH criteria by 1 year of age. 7 This makes the diagnosis of neurofibroma more challenging in a patient like ours. There are only a few reports in the literature of plexiform neurofibromas in the neonatal period.…”

Section: Discussionmentioning

confidence: 92%

Extensive Plexiform Neurofibroma in a Premature Neonate

Joshi

Lancelot

Bhattacharjee

et al. 2014

Clinical Medicine & Research

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Neurofibromatosis 1 has a germ line mutation in the NF1 tumor suppression gene.2 There are various subtypes of neurofibromas including focal cutaneous, diffuse cutaneous, subcutaneous, deep nodular, and diffuse plexiform. Plexiform neurofibromas develop in about half of the individuals with neurofibromatosis 1, 3,4 and are the major cause of morbidity and disfigurement. This particular variant can also progress to malignant peripheral nerve sheath tumor (MPNST), one of the leading causes of death among patients with neurofibromatosis 1. 3Case Report A 2-day old male neonate with a 35-5/7 week gestation and birth weight of 2664 grams was referred to our institution for evaluation and management of a mass on left side of his neck. Labor and delivery was complicated by pregnancyinduced hypertension, premature rupture of membranes, and nonreassuring fetal heart rate. Delivery was via an emergent cesarean section. The Apgar scores were 2, 6, and 8 at 1, 5, and 10 minutes, respectively. There was no known family history suggestive of neurofibromatosis 1. Prenatal ultrasound performed at 32 weeks of gestation was normal. We describe a premature neonate with an extensive plexiform neurofibroma. Prenatal ultrasound at 32 weeks of gestation was normal. Postnatal examination was significant for a palpable left neck mass. Magnetic resonance imaging (MRI) of the head demonstrated a mass involving the left cavernous sinus with spreading to the left orbital region. MRI of the neck was positive for extensive adenopathy, left more than right, with extension into the deep face region and infratemporal fossa on the left side. MRI of the chest, abdomen, and pelvis demonstrated a mass extending from the superior mediastinum to the left pelvic retroperitoneal region, including the mesenteric vasculature and spinal canal at multiple levels with compression of the spinal cord. Biopsy of the left neck mass confirmed for plexiform neurofibroma. A careful search of the literature revealed no previous report of such an extensive neurofibroma in a premature neonate. Surgical decompression in this premature neonate was not possible because of the extensive nature of the disease; it is known that neurofibroma is non-respondent to chemotherapy and radiotherapy. Therefore, alternative treatment is needed to improve the outcome.

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Section: Discussionmentioning

confidence: 92%

Extensive Plexiform Neurofibroma in a Premature Neonate

Joshi

Lancelot

Bhattacharjee

et al. 2014

Clinical Medicine & Research

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“…Imaging studies such as brain magnetic resonance imaging (MRI) are not generally done solely to establish a diagnosis of the disorder. Children with NF1 may have optic glioma or areas of enhanced T2 signal intensity, but the clinical impact of finding these lesions, and the diagnostic specificity of the enhanced T2 spots, may not justify the expense, anxiety, and sedation risk of performing MRI in young children [13]. Table 3 lists the major complications of NF1 by system.…”

Section: Overview Of the Nf1 Phenotypementioning

confidence: 99%

Pathophysiology of Neurofibromatosis Type 1

2006

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Neurofibromatosis type 1 (NF1) represents a major risk factor for development of malignancy, particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemias. The oncologist will see NF1 patients referred for treatment of malignancy, and should be alert to the possibility of undiagnosed NF1 among patients with cancer. Brain tumors tend to have a more indolent course in NF1 than in the general population, and hence are best managed conservatively. MPNST, in contrast, do not respond to standard chemotherapy or radiation therapy. The most effective treatment of MPNST appears to be early diagnosis and surgery, but early diagnosis is hampered by frequent occurrence within preexisting large tumors, making new growth or change difficult to detect. New insights into pathogenesis now offer hope of development of specific methods of treatment with reduced toxicity and more precise molecular targeting. There is an urgent need, however, to develop methods to measure tumor growth and monitor outcomes, develop preclinical drug screening systems, and further explore the pathogenesis of the disorder to determine whether mechanisms other than Ras regulation may be important in pathogenesis.

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“…Термин «факоматоз» был впервые введен голландским офтальмологом Jan van Der Heve в 1920 г., описавшим изменения на глазном дне в виде пятен (phakos -пятно) [1,2]. К факоматозам с поражением нервной системы относят нейрофибро-матоз Реклингхаузена, туберозный склероз Бурневиля (болезнь Бурневиля-Прингла), энцефалотригеминаль-ный ангиоматоз (болезнь Стерджа-Вебера-Краббе), множественный ангиоретикуломатоз (болезнь Гиппе-ля-Линдау), атаксию-телеангиэктазию (синдром Луи Бар), гипертрофическую гемангиэктазию (синдром Клиппеля-Треноне), ретино-оптико-мезенцефальный ангиоматоз (нейроретинально-лицевой ангиоматоз, болезнь Бонне-Дешома-Блана), кортикоменингеаль-ный диффузный ангиоматоз Ван Богарта-Диври и не-которые другие формы [3][4][5].…”

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“…[5,13,14]. Могут наблюдаться частые переломы костей конечностей, которые тяже-ло поддаются лечению и требуют консультации орто-педа.…”

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