Multiple, Successful Pregnancies in Pompe Disease

Abstract

Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.

Fig. 1

(a) Functional parameters: time-related tests (climbing four stairs, walking 10 m, getting-up from supine) and (b) distance-related test (6-min walk test). 1_pw15 first pregnancy week 15, 2_pw 7 second pregnancy week 7, ppw 14 postpartum week 14. The curves indicate absolute values, i.e. time needed (a) or metres walked (b); the numbers indicate the percent change compared to that before the first pregnancy. For the time-related tests, the percent increase indicates deterioration, i.e. more time needed than before pregnancy. For the distance-related test, deterioration is indicated by the percent decline (−percent), i.e. less metres walked within 6 min

Fig. 2

Neurological scores: muscle strength, Walton and Gardner-Medwin scale and arm function test. 1_PW 8 first pregnancy_pregnancy week 8, 1_ppw 13 first pregnancy_postpartum week 13, 2_pw 18 second pregnancy_pregnancy week 18, 2_ppw 39 second pregnancy_postpartum week 39

Fig. 3

Lung function tests. FEV1 one-second forced expiration volume, VC vital capacity, 1_PW 2 first pregnancy_pregnancy week 2, 1_ppw 24 first pregnancy_postpartum week 24, 2_pw 19 second pregnancy_pregnancy week 19, 2_ppw 39 second pregnancy_postpartum week 39, ERT (10w) enzyme replacement therapy for 10 weeks. The dotted line indicates basal, i.e. before pregnancy. * The numbers give the difference between FEV1 and VC during sitting and supine, respectively, at the indicated time points

Fig. 4

Histology of the placenta. PAS and HE haematoxylin staining of the myometrium. Normal histology of the placenta without glycogen deposits