Rett syndrome. the Puerto Rican experience
Rivera Reyes, L.; Toro Solá, M.A.
Boletin de la Asociacion Medica de Puerto Rico 82(6): 248-254
1990
ISSN/ISBN: 0004-4849 PMID: 2222681 Document Number: 700671
We have diagnosed and followed four Puerto Rican females with Rett Syndrome (RS). Their ages, when first examined, ranged from 10 months to 11 years. The classical symptoms of decreasing head size, onset of hand wringing movements with deterioration of milestones as well as EEG abnormalities were present in all. Case No. 1, considered our index case was evaluated by us and lost to follow-up for many years while residing in the mainland U.S.A. where multiple evaluations failed to give a definite diagnosis. Upon her return to Puerto Rico she was diagnosed by us in retrospect as having RS. These are the first Puerto Rican girls reported with RS and in doing so we hope for a better understanding of the syndrome by our medical community. Because of the devastating effects of RS, early diagnosis and parental counseling will be beneficial for patients and their families.
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