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