Thrombocytopenia absent corpus callosum syndrome: third case of a distinct clinical entity.
Thrombocytopenia absent corpus callosum, characterized by refractory thrombocytopenia, agenesis of the corpus callosum, hypoplastic cerebellum, abnormal facies, and developmental delay, represents a relatively newly described clinical entity. An 18-month-old girl with agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, hypotonia, and severe developmental delay presented with thrombocytopenia. She had a distinctive facies with microcephaly, broad nasal root with upturned nose, small upper lip, and micrognathia. A bone marrow aspirate and biopsy showed normal cellularity with dysplastic megakaryocytes. Thrombocytopenia absent corpus callosum is compared with other conditions characterized by congenital non-immune thrombocytopenia.
Khabbaze
Y
Y
Division of Pediatric Hematology/Oncology and Stem Cell Transplantation, Schneider Children's Hospital, Albert Einstein College of Medicine at the Long Island Jewish Medical Center, New Hyde Park, New York 11040, USA.
Karayalcin
G
G
Paley
C
C
Shende
A
A
Valderrama
E
E
Lipton
J M
JM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D061085:Agenesis of Corpus Callosum; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D013921:Thrombocytopenia / Q000151:congenital*; D014057:Tomography, X-Ray Computed