De Sanctis-Cacchione syndrome in a female infant--case report
Amadeus Lima Rocha Caldas1, Mecciene Mendes Rodrigues2
1Health College of Pernambuco, Institute of Integral Medicine, RecifePE, Brazil, MD - Degree in medicine from Health College of Pernambuco - Institute of Integral Medicine (Faculdade Pernambucana de Saúde - Instituto de Medicina Integral Professor Fernando Figueira - FPS-IMIP) - Recife (PE), Brazil.
Abstract:
The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.
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