RESUMO
We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor development, paroxysmal dystonic postures and movements of limbs, hypokinesia) due to tyrosine hydroxylase deficiency. High blood prolactin and low homovanillic acid in cerebrospinal fluid suggested the diagnosis. Genetic analysis revealed 3 new missense mutations on tyrosine hydroxylase gene: [c.752C>T(p.P251L) and c.887G>A(p.R296Q] harbored by the father and c.836G>T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q.
Assuntos
Mutação de Sentido Incorreto/genética , Transtornos Psicomotores/genética , Tirosina 3-Mono-Oxigenase/genética , Pré-Escolar , Distonia/sangue , Distonia/líquido cefalorraquidiano , Distonia/complicações , Distonia/genética , Testes Genéticos , Ácido Homovanílico/líquido cefalorraquidiano , Humanos , Masculino , Prolactina/sangue , Transtornos Psicomotores/sangue , Transtornos Psicomotores/líquido cefalorraquidiano , Transtornos Psicomotores/complicações , Tirosina 3-Mono-Oxigenase/deficiênciaRESUMO
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. Since 1970, when Haberland and Perou had described the first patient, 54 cases of ECCL have been reported in literature. We report on three new boys with ECCL. In addition to their typical dermal, ocular and central nervous system anomalies, one of them had a spheno-ethmoidal osseous lesion. Histopathological evaluation confirmed the benign nature of the lesion and was consistent with fibrous dysplasia. The aim of our study is to review clinical records and brain imaging studies of these three new patients with ECCL and compare these findings with those reported in literature to better define the phenotypic spectrum and radiological findings in ECCL.
