Methods: Retrospective chart review was performed.
Results: This patient had multiple congenital anomalies concerning for CHARGE syndrome (esotropia, pre-auricular pits, coarctation of the aorta), recurrent mild infections, failure-to-thrive, and onset of severe thrombocytopenia at 1 year. However, mutations in CHD7 and 22q11 were excluded. Thrombocytopenia was idiopathic and recalcitrant to corticosteroids, IVIG, rituximab and vincristine, but stabilized at 4 years following initiation of mycophenolate mofetil (MMF). Evaluation at 6 years showed profound hypogammaglobulinemia (IgG 47mg/dl, IgA <7mg/dl, IgM 25mg/dl) and non-protective vaccine titers, 5 years post rituximab. Monthly replacement gammaglobulin was initiated. With IVIG, thrombocytopenia improved, and so MMF was weaned. Within a few months, she developed massive splenomegaly (19cm), and large mediastinal lymphadenopathy. Evaluation for lymphoma was unrevealing. Laboratory assessment showed elevated vitamin B12 (1298pg/ml), elevated double negative T cells (98cells/ul), and elevated B220+ double negative T cells (79%), all consistent with ALPS. Genetic evaluation is pending. Once malignancy was excluded, MMF was re-started; lymphadenopathy and splenomegaly improved.
Conclusions: Medications administered for symptomatic palliation can unintentionally mask aspects of the presentation and obscure recognition of ALPS. MMF is an effective immunosuppressive agent in treating ALPS related lymphoproliferation.