SUMMARY

 

 

1. Mulvihill-Smith syndrome is a multi-system disease characterized by the following clinical features: 

IUGR 
Postnatal growth retardation 
Multiple pigmented nevi 
Microcephaly 
Reduced facial fat 
Genitourinary anomalies 
High pitched voice 
Hypodontia 
Recurrent infections 

 

2. Immunologic abnormalities include CD4 lymphopenia, decreased mitogen proliferation, and low IgG levels. The immunodeficiency may be progressive. 

 

3. The molecular cause of this syndrome has not been elucidated. 

 

4. Patients with specific antibody deficiency may benefit from prophylactic antibiotic therapy or immunoglobulin replacement therapy. 

 

 

 

 

                                                                                                                   

 

 

OVERVIEW

 

Mulvihill-Smith syndrome is a multi-system disease characterized by the following clinical features: 

IUGR 
Postnatal growth retardation 
Multiple pigmented nevi 
Microcephaly 
Reduced facial fat 
Genitourinary anomalies 
High pitched voice 
Hypodontia 
Recurrent infections 

 

     Immunologic abnormalities include CD4 lymphopenia, decreased mitogen proliferation, and low IgG levels. The immunodeficiency may be progressive. The molecular cause of this syndrome has not been elucidated. 

 

 

 

                                   

EVALUATION

 

The diagnosis of Mulvihill-Smith syndrome is currently made based on classic clinical features. 


Step 1: Immune Evaluation 

 

-IgG, IgM, IgA, 
-Specific antibody responses to vaccine antigens 
-Lymphocyte subset enumeration by flow cytometry (CD3, CD4, CD8, CD19, CD16/56) 
-In vitro T cell proliferation to Mitogens 

 

- Low IgG levels, CD4 lymphopenia, and decreased in vitro T cell proliferation in response to mitogens have been reported. 

 

 

 

 

                                                                           

 

RESOURCES

 

 

 

Literature Resources

 

1.  Bartsch 1994 
     Mulvihill-Smith syndrome - case report and review