Very rare disorder that usually affects infants
and young children. It is characterized by a failure to thrive, emaciation,
and normal linear growth. A history of normal development and weight gain is
normally followed by either a prolonged period of failure to gain weight or
weight loss. The individual may have anorexia or bulimia. Over time, loss of
body fat occurs and leads to an emaciated appearance. The child may have a
relatively large head compared with body weight. Overall development is
often slowed, but results of neurologic testing are normal. The eyes are
often affected, and the infant or child may present a strabismus, nystagmus,
papilledema, or blindness. The child may be unusually sleepy. The patient
usually behaves in a normal, alert, happy manner that is not in keeping with
the physical appearance. Growth hormone plasma level is usually higher than
normal.