Splenomegaly, Cytopenia, And Vision Loss

Description

Tantravahi et al. (2012) reported an apparently new syndrome involving massive splenomegaly, cytopenia, anhidrosis, chronic optic nerve edema, and vision loss.

Clinical Features

Tantravahi et al. (2012) studied a mother and 2 daughters, who were half-sisters, who had massive splenomegaly, cytopenia, anhidrosis, chronic optic nerve edema, and vision loss. The patients presented in the first decade of life with chronic optic nerve edema followed by slowly progressive vision loss, particularly central, and loss of color vision. In all cases, despite continued optic nerve head edema, lumbar puncture did not show elevated pressure. Although uveitis was seen in 2 patients, it was not present at all exams and testing for common causes of uveitis was negative. Disease progression was similar to a cone or cone-rod dystrophy, with electroretinography (ERG) showing loss of photopic (cone) responses with maintenance of scotopic (rod) responses into the teenage years in 2 patients; however, by ages 15 years to early twenties, all 3 patients had completely extinguished full-field ERGs. In addition, splenomegaly and mild pancytopenia developed in all 3 patients, at ages 9, 12, and 15 years; bone marrow evaluations were normal and splenectomy normalized their complete blood count values, indicating that the cytopenias were due to splenic sequestration. Splenic pathology showed congestion without infiltration or extramedullary hematopoiesis. Both daughters also reported migraine headaches and anhidrosis, and 1 also had episodic urticaria. Immunologic and autoimmune evaluations were negative.

Inheritance

Tantravahi et al. (2012) stated that the likely mode of inheritance of splenomegaly, cytopenia, and vision loss in the family they studied was autosomal dominant.