Myotonic dystrophy (MD): autosomal dominant (AD) disease manifested by multisystem abnormalities including myotonia, weakness, cardiac involvement, gastrointestinal dysmotility, inverted V-shaped upper lip.
Noonan syndrome with multiple lentigines (NSML): AD, multisystem disease characterised by multiple lentigines, hypertrophic cardiomyopathy, short stature, and dysmorphic facial features. Formerly LEOPARD syndrome.
Common variable immunodeficiency (CVID): most common symptomatic primary immunodeficiency disorder in adults characterised by recurrent infections, autoimmune diseases and malignancies, low IgG and IgA, and/or IgM levels and impaired vaccine response.
Case report of clinical history and laboratory data.
A 29-year old woman with family occurrence of NSML and MD1 was checked up because of her sister was treated for celiac disease (CD). She suffered from recurrent sinusitis, respiratory infections, leucopenia, thrombocytopenia, CD and AI thyroiditis, low IgG and IgA, impaired vaccine response were found. Diagnosis of CVID was set up and subcutaneous Ig replacement therapy was started. Patient´s daughter is treated with NSML and MD1, son with NSML, MD1 and extreme hypertrophic cardiomyopathy. His prognosis is unfavourable.
Genetic analyses: Pathogenic variant of PTPN11 gene, trinucleotide expansion in DMPK gene, and microduplications of 22q11 and 2q13q14.2 were observed in the family.
Simultaneous occurrence of NSML and MD1 is very rare. This is the first reported case of CVID with NSML and MD1. The relationship of NSML and MD1 to CVID remains undefined, further immunological evaluation in this population is necessary. Active search for hypogammaglobulinemia, especially CVID in patients with recurrent infections is warranted.