Clinical Neuroscience

[Pompe disease treated with enzyme replacement therapy in pregnancy]

GROSZ Zoltán1, VÁRDI Visy Katalin2, MOLNÁR Mária Judit1

SEPTEMBER 30, 2020

Clinical Neuroscience - 2020;73(09-10)


[Pompe disease is a rare lysosomal storage disease inherited in a recessive manner resulting muscular dystrophy. Due to the lack of the enzyme alpha glucosidase, glycogen accumulates in the cells. In the infantile form of Pompe disease hypotonia and severe cardio-respiratory failure are common leading to death within 2 years if left untreated, while the late-onset form is characterized with limb-girdle and axial muscle weakness accompanied with respiratory dysfunction. Pompe disease has been treated with regular intake of the missing enzyme since 2006, which significantly improved the survival and severity of symptoms in patients of both subtypes. The enzyme replacement therapy (ERT) is safe and well tolerated. However, limited data are available on its use in pregnancy. Our goal is to share our experience and review the literature on the safety of enzyme replacement therapy for Pompe disease during pregnancy and post partum.]


  1. Semmelweis Egyetem, Genomikai Medicina és Ritka Betegségek Intézete Budapest
  2. InspiroMed, Budapest



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Clinical Neuroscience

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JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

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Acquired idiopathic generalised anhidrosis is an uncommon sweating disorder characterized by loss of sweating in the absence of any neurologic, metabolic or sweat gland abnormalities. Although some possible immunological and structural mechanisms have been proposed for this rare entity, the definitive pathophysiology is still un­clear. Despite some successfully treated cases with systemic corticosteroid application, the dose and route of steroid application are controversial. Here, we present a 41-year-old man with lack of genera­lised sweating who has been successfully treated with high dose pulse intravenous prednisolone. We have discussed his clinical and histopathological findings as well as the treatment options in view of the current literature.

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Acute effect of sphenopalatine ganglion block with lidocaine in a patient with SUNCT


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TÓTH Mónika, VÁRDI Katalin Borbála

[Aim of the study: Pompe disease is a rare mitochondrial disease, which is treated with enzyme replacement therapy. The authors examined the lifestyles of patients diagnosed with Pompe disease, and their knowledge regarding the illness. They compared this with the results of the regular checkups performed during the care process, in order to assess the patients’ compliance. Sample and methods: The research was conducted among patients suffering from Pompe disease, treated at the Rehabilitation Department of the Törökbálint Institute of Pulmonary Medicine (N=14). The survey of the patients’ knowledge took place in the form of personal interviews. The findings related to the regular enzyme replacement therapy were recorded and collated in the course of interviews conducted by telephone with the nurses of the centres administering the treatment. The data was processed using Microsoft Excel software. Results: In 2012 in Hungary the number of patients diagnosed with Pompe disease was 14 (12 adults, 2 children). The time elapsed from emergence of the first symptoms to the precise diagnosis in the case of all known patients (except in the case of one screened child) was an average of 13.4 years. Ten of the patients were receiving enzyme replacement therapy. The survey revealed that the conditions of the patients receiving the enzyme replacement therapy did not deteriorate. In the case of the female child, the decrease in CK levels was accompanied by growth and movement consistent with her age, and an improvement in vocalisation. Conclusions: For patients diagnosed with the once fatal Pompe disease, enzyme replacement therapy now offers the opportunity of a full life; and complementary treatments not only boost the effectiveness of the enzyme replacement, but also improve the patients’ subjective quality of life.]