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2016, Number 5

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Rev Ciencias Médicas 2016; 20 (5)

Neurofibromatosis type 1 and pregnancy

García OA, Rives GY, Reina AAI, Álvarez BD
Full text How to cite this article

Language: Spanish
References: 11
Page: 645-650
PDF size: 213.37 Kb.


Key words:

neurofibromatoses, neurofibromatosis 1, neurofibromatosis 1 genes, pregnant women, genetics.

ABSTRACT

Introduction: type 1 neurofibromatosis is a genetic disease, of autosomal inheritance, dominant, with 100% of penetrance and variable expressivity, where the halves of the cases correspond to Novo mutations.
Case report: a 28 year-old female patient of mixed race, living in urban area, pre-university education, housewife, the menarche at 16 years old, menstrual formula every 30 days lasting 5 days, first sexual relations at age 16, obstetric history: G 6, P1 (C-section) A 2 (miscarriage) and 2 (artificial abortion), no transfusions, no toxic habits, no drug allergies, previous caesarean section in 2006.
Conclusions: it is a rare incidence in pregnant women with this base disease, a case of a 28-year-old is reported, elective iterated caesarean section is planned, by intravenous general anesthetic method, prior interdisciplinary consultation, a healthy baby was born, with good Apgar score, with no maternal or neonatal complications.


REFERENCES

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  2. Gómez M, Batista O. Neurofibromatosis tipo 1 (NF1) y su diagnóstico molecular como estrategia del diagnóstico diferencial y a edades tempranas. Rev Méd Chile [Internet]. 2015 Oct [citado 11 Ene 2016]; 143(10): [Aprox. 10p.]. Disponible en:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872015001000011&lng=es

  3. Dagalakis U, Lodish M, Dombi E, et al. Puberty and Plexiform Neurofibroma Tumor Growth in Patients with Neurofibromatosis Type I. The Journal of pediatrics [Internet]. 2014 [cited 2016 Jan 17]; 164(3): [Aprox. 4p.]. Available from:http ://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943976/

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