Neurofibromatosis Type 1 (von Recklinghausen's disease) in Pregnancy: cesarean delivery outcomes – case report

Brîndușa Lungu, Silvia Baican, Zenovica Bădărău, Zinica Lungu


Neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is a genetic neurological disorder characterized by cutaneous and plexiform neurofibromas, café-au-lait spots, Lisch nodules, freckling in axillary and inguinal regions, optic gliomas, bone abnormalities and an increased risk of malignancy. It is also reported to be associated with adverse perinatal outcome in pregnant women. This article presents a case of a pregnant woman with a known NF1 disease since childhood, with a Fourth Ventricle benign tumor surgery, a permanent ventriculoperitoneal shunt and a Right Bundle Branch Block (RBBB). However, this is a case with a normal obstetric outcome, without the aggravation of dermatological lesions of the condition during pregnancy.


Neurofibromatosis type 1, von Recklinghausen, pregnancy, cesarean delivery

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Ricacardi VM. Von Recklinghausen neuro-fibromatosis. NEJM 1981; 305:1617–1626.

Pilmore H, Na Nagara M, Walker R. Neurofibromatosis and renovascular hypertension presenting in early pregnancy. Nephrol Dial Transplant 1997; 12:187–189

Stefanidis K, Solomou E, Lagona E, et al. MRI investigation for neurofibromatosis type 1 lesions during pregnancy-a case report. Clin Exp Obstet Gynecol 2006; 33(4):246-8.

Terzi YK, Oguzkan-Balci S, Anlar B, et al. Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling. Genet Couns 2009; 20(2):195-202.

Weissman A, Jakobi P, Zaidise I, Drugan A. Neurofibromatosis and pregnancy. An update. J Reprod Med 1993; 38(11):890-96.

Sangwan N, Duhan N. Normal Obstetric Outcome in Neurofibromatosis-1 Complicating Pregnancy. JK Science 2008; 10(4):197-198.

Bongiorno MR, Doukaki S, Aricò M. Neurofibromatosis of the nipple-areolar area: a case series. J Med Case Rep 2010; 4:22.

Zanca A, Zanca A. Antique illustrations of neurofibromatosis. Int J Dermato 1980; 19(1):55-8.

Crump T. Translation of case reports in Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen by F. v. Recklinghausen. Adv Neurol 1981; 29:259-75.

Ferner R, Huson S, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007; 44(2):81–88.

Ruggierei M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001; 56(11):1433–43.

Korf BR, Huson SM. The Phakamatoses. In: Rimoin D, Connor JM, Pyeritz RE, Korf BR, eds. Principles and practice of medical genetics, 5th edn. Edinburgh: Churchill Livingstone 2006; 90(6):924-7.

Bandipalliam P. Syndrome of early onset colon cancer, haematological malignancy and features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations. Fam Cancer 2005; 4(4):323-33.

De Luca A, Bottiloo I, Sarkozy A, et al. NF1 gene mutations represent the major molecular event underlying neurofibromatosis–Noonan syndrome. Am J Med Genet 2005; 77(6):1092-101.

Evans DGR, Moran A, King A, et al. Incidence of vestibular schwannoma and neurofibromatosis 2 in the north west of England over a 10‐year period: higher incidence than previously thought. Otol Neurotol 2005; 26(1):93-7.

Trofatter J, MacCollin M, Rutter JL, et al. A novel moesin–esrin–radixin‐like gene is a candidate for the neurofibromatosis 2 tumours suppressor. Cell 1993; 72(5):791-800.

Evans DGR, Huson SM, Donnai D, et al. A clinical study of type 2 neurofibromatosis. Q J Med 1992; 84(304):603-18.

MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for schwannomatosis. Neurology 2005; 64(11):1838-45.

*** Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988; 45(5):575-8.

Viskochil D, Buchberg AN, Xu G, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62(1):187-92.

Wallace MR, Marchuk DA, Anderson LB, et al. Type 1 neurofibromatosis gene; identification of a larger transcript disrupted in three NF1 patients. Science 1990; 249(4965):181-6.

Xu GF, O'Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62(3):599-608.

Gutmann DH, Wood DL, Collins FS. Identification of the neurofibromatosis 1 gene product. Proc Natl Acad Sci USA 1991; 88(21):9658-62.

Daston MM, Scrable H, Nordlund M, et al. The protein product of the neurofibromatosis type 1 gene is expressed at highest abundance in neurons, Schwann cells and oligodendrocytes. Neuron 1992; 8(3):415-28.

Lammert M, Mautner V, Kluwe L. Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients. BMC Cancer 2005; 5:16.

Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet 1996; 66(1):7-10.

National Institute of Neurological Disorders and Stroke-NINDS Neurofibromatosis Information Page [ available at 9.09.2014]

Hsieh DT. Neurofibromatosis Type 1. Medscape [ available at 9.09.2014]

Pastore JO, Yurchak PM, Janis KM, Murphy JD, Zir LM. The risk of advanced heart block in surgical patients with right bundle branch block and left axis deviation. Circulation 1978; 57:677-680.

Salgaonkar S, Chaudhari L. Anaesthetic management of emergency cesarean section in a case of myocardial infarction with left ventricular dysfunction. Indian J Anaesth 2003; 47(4):293-295.

Dorman T, Breslow MJ, Pronovost PJ, Rock P, Rosenfeld BA. Bundle-branch block as a risk factor in noncardiac surgery. Arch Intern Med 2000; 160(8):1149-52.


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