Neuroradiology Case of the Week

Case 42

Kalpesh C. Patel, MD and P-L Westesson, MD, PhD, DDS

Clinical Presentation: The patient is an 11-year-old female who was found unresponsive.

Radiological Findings: CT scan of the head demonstrates a large intraparenchymal hemorrhage involving the right temporal lobe and right frontal and parietal lobes (Figs. 1A-C). The hemorrhage caused mass effect with midline shift and effacement of the right lateral ventricle. There is some tendency for enlargement of the left temporal horn suggesting the beginning of a hydrocephalus. There is some degree of subfalcine herniation. The suprasellar system is still present.

Figure 1A-C: Demonstrates an intraparenchymal hemorrhage in the frontal, parietal and temporal lobes.

Diagnosis: Intraparenchymal hemorrhage in an 11 year old female

Differential Diagnosis:  Trauma, vascular malformation, vasculitis (aspergillosis and cocaine or amphetamine use), infectious endocarditis with septic emboli, herpes encephalitis, anticoagulation therapy, hemorrhagic neoplasm, bleeding disorders, and hypertensive hemorrhage are unlikely in this age group.

Discussion: Intraparenchymal hemorrhage is exceedingly rare in pediatric patients. This patient was diagnosed with Fanconi’s anemia, which is one of the most common genetic forms of aplastic anemia, an autosomal recessive disorder characterized by a progressive pancytopenia, diverse congenital abnormalities and a predisposition to malignancy.
    It is a recessive disorder, this means that if both parents carry the mutation each of the children has a 25% chance of inheriting this disorder. Fanconi’s anemia occurs equally in males and females and it is found in all ethnic groups. It is primarily a blood disease, but it may affect other systems of the body. Many patients develop leukemia and older patients are very likely to develop head and neck, esophageal, gastro-intestinal, and anal cancers.
   There are associated anomalies involving the thumb and arm being misshapen, missing or duplicated. Skeletal anomalies of the hip, spine and ribs (kidney problems including missing or horseshoe kidneys), skin discoloration, small heads and eyes, mental retardation, small reproductive organs in males, defective tissues separating the chambers of the heart.
   The definitive test for Fanconi’s anemia is a chromosome breakage test.

References:

1. Auerbach AD, Schroeder TM. First announcement of the Faconi’s anemia international register. Blood 1982;60:1054.