Back to Search
Start Over
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: A further manifestation of an increased risk for autoimmune disorders?
- Publication Year :
- 2008
-
Abstract
- Glycogen storage disease type Ib (GSD Ib, OMIM 232220) is an inborn disorder of glucose metabolism, caused by mutations in the G6PT gene, encoding a glucose 6-phosphate transporter (G6PT). GSD Ib is mainly associated with fasting hypoglycaemia and hepatomegaly. Most GSD Ib patients also show neutropenia and neutrophil dysfunction and therefore are at risk of developing severe infections and inflammatory bowel disease (IBD). An increased risk for autoimmune disorders, such as thyroid autoimmunity and Crohn-like disease, has also been demonstrated, but no systematic study on the prevalence of autoimmune disorders in GSD Ib patients has ever been performed. We describe a 25-year-old patient affected by GSD Ib who developed 'seronegative' myasthenia gravis (MG), presenting with bilateral eyelid ptosis, diplopia, dysarthria, severe dysphagia, dyspnoea and fatigue. The repetitive stimulation of peripheral nerves test showed signs of exhaustion of neuromuscular transmission, particularly evident in the cranial area. Even in the absence of identifiable anti-acetylcholine receptor antibodies, seronegative MG is considered an autoimmune disorder and may be related to the disturbed immune function observed in GSD Ib patients.
- Subjects :
- Adult
congenital, hereditary, and neonatal diseases and abnormalities
Neuromuscular Junction
Neuromuscular transmission
Autoimmunity
Disease
Glycogen Storage Disease Type I
Neutropenia
medicine.disease_cause
Risk Assessment
Inflammatory bowel disease
Ptosis
Risk Factors
Myasthenia Gravis
Glycogen Storage Disease Type Ib
Genetics
Blepharoptosis
Humans
Medicine
Peripheral Nerves
Fatigue
Genetics (clinical)
Neurologic Examination
business.industry
Immunoglobulins, Intravenous
nutritional and metabolic diseases
medicine.disease
Myasthenia gravis
Dyspnea
Treatment Outcome
Immunology
Female
Steroids
Cholinesterase Inhibitors
medicine.symptom
Deglutition Disorders
Respiratory Insufficiency
business
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....73f9690fa8f94a5a8b9b60464a252de3