We posted previously about Tarsila, a little Brazilian girl with a long and complicated medical history (post here). Tomorrow, October 14, Tarsila turns two. She now has five teeth, and lately she even tries to talk, get up and grab whatever objects she can find. She seems to have a bit more strength, especially in her legs. Her mother, Monica, writes on her blog, What is the Matter with Tarsila?, that Tarsila is a happy child and keeps on smiling.
But Tarsila’s disease remains undiagnosed. Since the onset of symptoms she has had countless medical exams. Although diseases like biotinidase deficiency and Wilson syndrome have been discarded, the results of the exams were not conclusive. At this point, the clinical observations seem to indicate that Tarsila suffers from Menkes Syndrome, a genetic disease that affects copper levels in the body.
Some of the symptoms Tarsila presents are typical of Menkes: the sparse and coarse hair, the hypotonia, the growth failure, and the deterioration of the nervous system. However, more sophisticated tests are needed in order to confirm the diagnosis.
Up to now, only six cases have been described in girls, most of them due to a spontaneous genetic mutation. Each girl is unique in the development the disease, and the symptoms are variable. Monica is now looking for a confirmation of this diagnosis.
We all wish you a happy birthday, Tarsila. May this day bring to you all the things that make you smile.
Do you know of any cases similar to Tarsila’s or any other girl diagnosed with Menkes Syndrome?