title: Sebastian syndrome: case report and review of the literature.
abstract: Macrothrombocytopenias (MTCP) are a heterogeneous group of disorders associated with thrombocytopenia and giant platelets, and may include other clinical or laboratory findings such as hereditary nephritis, sensorineural deafness, leukocyte inclusions, and cataracts. Patients with MTCP may have mild to moderate bleeding symptoms or be completely asymptomatic. The most recently described MTCP is the Sebastian syndrome (SS), which consists of thrombocytopenia with giant platelets and leukocyte inclusions. Only three previous reports about this syndrome have been published. Herein, we report the first African-American family with SS. The propositus is a 4-week-old male born to a mother carrying the diagnosis of chronic idiopathic thrombocytopenia purpura (ITP). His 4-year-old brother also has thrombocytopenia. There is no history of bleeding symptoms in any of the family members. The diagnosis was established by demonstrating thrombocytopenia with giant platelets and leukocyte inclusions on both peripheral smear and by electron microscopy. This report illustrates the importance of obtaining a family history when evaluating thrombocytopenia with special emphasis on a history of thrombocytopenia, renal disease, deafness, and cataracts. It is important to differentiate between MTCP and chronic ITP to avoid the unnecessary diagnostic studies, and, more critically, unneeded and potentially harmful therapy.
authors.affiliation: Department of Hematology/Oncology, Children's National Medical Center, George Washington University, Washington, DC, USA. gyoung@peds.umaryland.edu
authors.forename: G
authors.initials: G
authors.lastname: Young
authors.forename: N L
authors.initials: NL
authors.lastname: Luban
authors.forename: J G
authors.initials: JG
authors.lastname: White
mesh_terms: D000328:Adult; D044383:Black People; D001792:Blood Platelets / Q000473:pathology*; D048429:Cell Size; D004396:Coloring Agents; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007962:Leukocytes / Q000648:ultrastructure*; D008297:Male; D008854:Microscopy, Electron; D011247:Pregnancy; D013577:Syndrome; D013921:Thrombocytopenia / Q000473:pathology*; D001741:Black or African American
chemical_list: D004396:Coloring Agents