Transient Erythroblastopenia of Childhood Clinical Presentation

Updated: Sep 17, 2019
  • Author: Lennox H Huang, MD, FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Presentation

History

Most individuals with transient erythroblastopenia of childhood (TEC) present with gradually increasing pallor and no other symptoms despite the severity of the anemia.

Occasionally, parents report increased fatigue or decreased energy levels in children with transient erythroblastopenia of childhood.

Some isolated incidents of transient neurologic events and breath-holding spells have been reported in association with transient erythroblastopenia of childhood. [10, 9]

Other differential considerations (eg, aplastic crises, hyperhemolytic crises, sequestrations) typically present more acutely than transient erythroblastopenia of childhood. Fatigue and pallor develop over the course of days and are often associated with nonspecific viral symptoms, such as fever, malaise, lethargy, abdominal pain, or upper respiratory symptoms. Jaundice may also be a presenting symptom, especially in the context of a preexisting hemoglobinopathy such as sickle cell disease or hereditary spherocytosis.

Family history may reveal siblings with a history of anemia.

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Physical

Upon physical examination, patients are usually healthy except for findings commonly associated with anemia, such as skin and mucosal pallor, tachycardia, and, often, a cardiac flow murmur. [2] There is one isolated case report of TEC in association with ectopic atrial tachycardia. [11]

By contrast, the most common congenital anomalies associated with Diamond-Blackfan anemia include short stature, low birth weight, developmental delay, thumb malformations, craniofacial anomalies, and urogenital abnormalities. Examining for physical anomalies is important because they are found in as many as 70% of patients with Diamond-Blackfan anemia.

A complete neurologic examination is necessary because of case-report associations.

In patients with symptoms such as splenomegaly and icterus, consider other diagnoses such as a hemolytic-associated anemia or sequestration-associated anemia. A characteristic "slapped cheek" rash is often associated with parvovirus B19 infection and aplastic anemia. [12]

There is one isolated case report of transient erythroblastopenia of childhood in association with neonatal hepatitis. [13]

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Causes

The cause of transient erythroblastopenia of childhood is unknown. Viral and immunologic mechanisms may be involved.

Reports of seasonal clusters of incidents of transient erythroblastopenia of childhood, although suggestive of a viral etiology, are not statistically significant.

Only a handful of familial transient erythroblastopenia of childhood cases have been reported, and no apparent genetic link has been elucidated.

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