Hermansky-Pudlak syndrome (HPS) is a disease characterized by the triad of oculocutaneous albinism, bleeding diathesis and organ failure secondary to lysosomal accumulation of ceroid lipofuscin. We report the case of a pregnant woman with HPS who had a successful vaginal delivery with the administration of desmopressin.
PiersonDM, IonescuD, QingG, Pulmonary fibrosis in Hermansky-Pudlak syndrome. Respiration2006;73:382–95
2.
GahlWA, BrantlyM, TroendleJ, Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab2002;76:234–42
3.
BrantlyM, AvilaNA, ShotelersukV, Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutation sin HPS-1. Chest2000;117:129–36
4.
Sandberg-GertzenH, EidR, JarnerotG. Hermansky-Pudlak syndrome with colitis and pulmonary fibrosis. Scand J Gastroenterol1999;34:1055–6
5.
OhJ, BailinT, FukaiK, Positional cloning of a gene for Hermansky-Pudlak syndrome: a disorder of cytoplasmic organelles. Nat Genet1996;14:300–6
6.
MorganNV, PashaS, JohnsonCA, A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome. Am J Hum Genet2006;78:160–6
7.
McKeownLP, HansmannKE, WilsonO, Platelet von Willebrand factor in Hermansky-Pudlak syndrome. Am J Hematol1998;59:115–20
8.
WaxJR, RosengrenS, SpectorE. DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy. Am J Perinat2001;18:159–61
9.
ReissRE, CopelJA, RobertsNS, HobbinsJC. Hermansky-Pudlak syndrome in pregnancy: two case studies. Am J Obstet Gynecol1985;153:564–5
10.
PoddarRK, ColeyS, PavordS. Hermanksy-Pudlak syndrome in a pregnant patient. Br J Anaesth2004;94:740–2
11.
ZatikJ, PokaR, BorsosA, PflieglerG. Variable response of Hermansky-Pudlak syndrome to prophylactic administration of 1-desamino 3D-arginine in subsequent pregnancies. Eur J Obstet Gynecol2002;104:165–6
