Tarsila is a year-and-a-half-old Brazilian girl who suffers from an undiagnosed medical disorder. She cannot sit on her own or crawl, she still has no teeth, and she can only mutter some sounds.
Despite her young age, Tarsila has a vast and complicated medical history. She reached all her development milestones until she was seven months old. Soon after that, her parents noted that she was having problems sitting on her own. The first neurological exams indicated she had cerebellum atrophy and consequently hypotonia. Tarsila also has kinky hair, known in medical terminology as pili torti and trichorrexis nodosa, as well as some silvery hairs. Additionally, she has spots on the sclera, a couple of purple birthmarks on her back, and a deficiency in copper and ceruloplasmin.
All these symptoms seemed to indicate Tarsila that was affected by Menkes syndrome, a rare genetic disorder that is almost never found in females. But the genetic screening was negative for this mutation. The doctors that attend Tarsila seem to have exhausted their knowledge. Put together, the results of her medical exams don’t seem to relate to any known disease.
As this medical mystery seems far from being resolved, Tarsila’s mother, Monica, is trying to reach out in her blog What’s the matter with Tarsila? (O que e que a Tarsila tem? in Portuguese). Monica’s goal is to find a child a like Tarsila and maybe even a cure for her illness. “I made a blog to draw attention to Tarsila’s condition. I have uploaded photos, videos, medical reports and exams so other families with similar cases, as well as doctors and researchers, can have more clues.”
Do you know any case similar to Tarsila’s?

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