Drachtman Weinblatt Sitarz Syndrome

At a glance

It is a disease characterized by the combination of congenital neurologic anomalies and late-onset bone marrow hypoplasia.

Synonym

Marrow Hypoplasia Congenital Neurologic Anomaly Syndrome.

Incidence

Only two cases have been described in the literature.

Genetic inheritance

Inheritance could be autosomal recessive. Chromosome studies were normal and did not show increased fragility.

Diagnosis

Diagnosis is clinical based on the presence of neurologic anomalies combined with easy bruising. The diagnosis is confirmed by computed tomography or magnetic resonance imaging of the brain. Other laboratory investigations should include a complete blood count (nonmegaloblastic macrocytosis), and bone marrow biopsy that reveals hypocellular bone marrow with erythroid hyperplasia, reduced granulopoiesis, and quasi-absence of megakaryocytes.

Clinical aspects

The main feature of this syndrome is the late appearance (around age 4 years) of easy bruising with purpuric lesions and scattered petechiae as a result of a low platelet count. In addition, patients may present with acute bleeding as a consequence of minor trauma, which, in turn, leads to anemia. The other characteristic of this syndrome is the presence of neurologic anomalies, which seem to be quite variable (hemiparesis with dilated left ventricle and asymmetry of the peduncles, partial agenesis of the corpus callosum, hydrocephalus, Dandy-Walker Syndrome, developmental delay, and seizures). Congenital ocular anomalies include strabismus, optic nerve hypoplasia, and rotary nystagmus. No skeletal anomalies have been described in association with this syndrome. The disorder usually is not responsive to steroid therapy. Bone marrow transplant seems to be the only therapeutic solution.

Precautions before anesthesia

Obtain a complete blood count and consult a hematologist if necessary. Ensure that blood products are readily available before going to the operating room.

Anesthetic considerations

In the presence of bone marrow aplasia, it may be wise to avoid neuraxial anesthesia and the placement of central lines via the subclavian route. Good padding for positioning is advised. To decrease the formation of petechiae or bruises, less-frequent cycling of the blood pressure cuff is recommended if the patient is stable or when an arterial line is in place. Use sterile technique for catheter insertion because these patients may also be neutropenic.

Pharmacological implications

In order to not further compromise hemostasis, drugs that inhibit thromboxane A₂ synthesis (eg, acetylsalicylate, nonsteroidal anti-inflammatory drugs) or otherwise interfere with hemostasis should be avoided or used with caution only. Acetaminophen, although less potent, should be preferred instead.

Other conditions to be considered

• ☞Blackfan-Diamond Syndrome: Congenital hypoplastic anemia that manifests in the first year of life and has an increased risk for leukemia.

• ☞Fanconi ...