RESUMO
We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.
Assuntos
Genes Recessivos , Doenças do Cabelo/genética , Deficiência Intelectual/genética , Unhas Malformadas/genética , Adolescente , Adulto , Aminoácidos/análise , Cobre/análise , Cistina/análise , Feminino , Cabelo/análise , Humanos , Masculino , México , Microscopia Eletrônica , Linhagem , Síndrome , Zinco/análiseRESUMO
A family is described with hypoplasia of the anterior iris stroma, no angle anomalies, and no glaucoma. The pedigree is suggestive of an autosomal dominant mode of inheritance. This is compared to the main peripheral malformations of the anterior chamber cleavage syndrome and other disease entities with similar iris changes. The pedigree represents a point on the continuum of mesoectodermal dysgenesis or anterior chamber cleavage syndrome.
Assuntos
Câmara Anterior/embriologia , Iris/anormalidades , Adulto , Criança , Pré-Escolar , Anormalidades Congênitas/genética , Ectoderma , Feminino , Humanos , Iris/embriologia , Iris/patologia , Masculino , Mesoderma , Linhagem , SíndromeRESUMO
A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).
Assuntos
Variação Genética , Intolerância à Lactose , Mucopolissacaridose IV/genética , Sulfatases/metabolismo , Adolescente , Feminino , Galactosamina/metabolismo , Humanos , Mucopolissacaridose IV/diagnóstico por imagem , Mucopolissacaridose IV/enzimologia , Radiografia , Pele/enzimologiaRESUMO
Three patients with typical features of mannosidosis and deficiency of alpha-mannosidase activity, who were examined ophthalmologically, had similar lenticular opacities. Corneal opacities were absent. Chamber angle and striking ophthalmoscopic anomalies occurred in two young patients who had normal electroretinograms. Two patients had strabismus. Conjunctival biopsy specimens morphologically confirmed the lysosomal nature of this disorder.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/complicações , Manifestações Oculares , Manose/metabolismo , Catarata/complicações , Pré-Escolar , Túnica Conjuntiva/patologia , Feminino , Humanos , Masculino , Manosidases/deficiênciaAssuntos
Erros Inatos do Metabolismo dos Carboidratos/etiologia , Dissacaridases/deficiência , Degeneração Hepatolenticular/tratamento farmacológico , Manosidases/deficiência , Penicilamina/efeitos adversos , Complicações na Gravidez/tratamento farmacológico , Erros Inatos do Metabolismo dos Carboidratos/induzido quimicamente , Feminino , Degeneração Hepatolenticular/complicações , Humanos , Recém-Nascido , Latirismo/induzido quimicamente , Penicilamina/administração & dosagem , Penicilamina/uso terapêutico , GravidezRESUMO
We have presented 2 affected sibs-a male and female-with unaffected parents and sib from a small remote northern Mexican village. The syndrome includes mental deficit, brittle hair with decreased cuticular layer and an apparently collapsed cortex. The patients' hair contains decreased sulfur content and increased concentrations of trace elements as determined by x-ray fluorescent spectroscopy. Studies are underway to evaluate other apparently similarly affected children from the village where our family originated.