Info

Radial x-ray

+

±

Clinodactyly/syndactyly

±

+

±

±

Enamel hypoplasia

±

Cardiac defects

±

±

±

±

±

Renal malformations

±

±

±

±

Cutaneous abnormalities

+

+

+a

+

Karyotypic abnormalities

+

Chromosome breaks

+

Abbreviations: TACC, thrombocytopenia agenesis of corpus callosum; TAR, thrombocytopenia absent radii; ATRUS, amegakaryocytic thrombocytopenia with radio-ulnar synostosis; FA, Fanconi anemia; AMT, amegakaryocytic thrombocytopenia; HH, Hoyeraal-Hreidarsson syndrome; DC, dyskeratosis congenital; WAS, Wiskott-Aldrich syndrome; BS, Bernard-Soulier syndrome; MH, May Hegglin anomaly; N, normal; Î, increased; 4, decreased; +, present; —, absent; ±, present occasionally. a Present at a mean age of 9 years.

Abbreviations: TACC, thrombocytopenia agenesis of corpus callosum; TAR, thrombocytopenia absent radii; ATRUS, amegakaryocytic thrombocytopenia with radio-ulnar synostosis; FA, Fanconi anemia; AMT, amegakaryocytic thrombocytopenia; HH, Hoyeraal-Hreidarsson syndrome; DC, dyskeratosis congenital; WAS, Wiskott-Aldrich syndrome; BS, Bernard-Soulier syndrome; MH, May Hegglin anomaly; N, normal; Î, increased; 4, decreased; +, present; —, absent; ±, present occasionally. a Present at a mean age of 9 years.

4. Purpura is present in the first few days of life or may be delayed for weeks. Hemorrhagic manifestations range from a few petechiae to severe and even fatal intracranial hemorrhage.

Hematologic Findings

1. The platelet counts usually range from 10,000 to 30,000/mm3.

2. The leukemoid blood picture frequently shows a total white blood cell count as high as 140,000/mm3.

3. The bone marrow examination reveals myeloid hyperplasia and an almost total absence of megakaryocytes.

Prognosis

1. If patients survive beyond the first year, the platelet count stabilizes and the prognosis is much better.

2. The condition is rarely premalignant with the development of acute leukemia.

Treatment

1. Transfusion of red cells for anemia and transfusion of platelet concentrates for severe bleeding are required for the thrombocytopenia.

2. Corticosteroids and splenectomy offer no constant benefit.

3. Allogeneic stem cell transplantation may be required for severe symptomatic patients.

Amegakaryocytic Thrombocytopenia with Radio-Ulnar Synostosis

Patients with amegakaryocytic thrombocytopenia with radio-ulnar synostosis (ATRUS) present with severe normocytic thrombocytopenia at birth. Bone marrow shows absence of megakaryocytes. These patients have skeletal abnormalities such as radio-ulnar synostosis, clinodactyly, and shallow acetabula. Some patients subsequently develop hypoplastic anemia and pancytopenia.

Congenital Hypoplastic Thrombocytopenia with Microcephaly

Three infants with this syndrome have been reported. The absence of other stigmata and the persistence of the thrombocytopenia beyond the first year of life excluded rubella syndrome as the basis for this association.

Thrombocytopenia Agenesis of Corpus Callosum Syndrome

Three female patients have been reported with thrombocytopenia, agenesis of corpus callosum, low birth weight, growth delay, and dysmorphic facial features.

Thrombocytopenia in Rubella Syndrome

Congenital cardiac defects, cataracts, deafness, thrombocytopenic purpura, jaundice, hepatosplenomegaly, and bone lesions occur. The platelet count is usually low, ranging from 10,000 to 50,000/mm3. Anemia with increased reticulocytosis and nucleated red cells has been observed and suggests a marrow response to widespread purpura or an associated hemolytic process. Bone marrow examinations reveal a decreased number of megakaryocytes.

Thrombocytopenia Associated with Trisomy Syndromes

Children with trisomy 13, trisomy 18, and trisomy 21 have been described with congenital hypoplastic thrombocytopenia.

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