This is a newly described hereditary disorder with widespread systemic features.
Infants are usually diagnosed with severe anemia at the age of two months. The immune system is immature and most patients have periodic episodes of fever without evidence of an infection. The brain has multiple deficits and does not develop normally. As a result, developmental milestones such as speech and walking are delayed. Unsteadiness (ataxia) is frequently present. Seizures may occur and many children have hearing loss. In addition, the kidneys (kidney stones and loss of amino acids through the urine) and the heart (heart failure) are also involved. The retina in the eye has been observed to have abnormal pigmentation in a small number of individuals.
This is an autosomal recessive condition in which two mutations are necessary for the disease to develop. Parents, who carry only a single mutation, are clinically normal but if both carry it there is a 25% chance that each of their children will inherit this condition.
Pediatricians and hematologists are most likely to make the diagnosis. However, neurologists, immunologists, and ophthalmologists should be involved as well because of the serious and widespread occurrence of symptoms. The median survival age is only 4 years although one individual has reached the age of 19 years.