| Revista: | Belize journal of medicine |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000418611 |
| ISSN: | 2225-8116 |
| Autors: | Ríos Navarrete, Wendy1 |
| Institucions: | 1The Pediatric Center, Ciudad de Belice. Belice |
| Any: | 2013 |
| Període: | Ene |
| Volum: | 2 |
| Número: | 1 |
| Paginació: | 5-7 |
| País: | Belice |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | Perinatal hypophosphatasia is a rare and severe disease associated with a reduction in tissue non-specific alkaline phosphatase synthesis due to a deletion or a mutation of its gene located on chromosome 1. These patients present severe bone demineralization, low levels of alkaline phosphatase and increase of urinary and serum pyrophosphate and phosphoethanolamine. The condition can be lethal in utero or after birth due to inadequate bone support of the chest and skull, although patients with milder phenotypes can survive until adulthood. A case of a female patient is presented. She was 21 days old, of Mennonite origin, with a history of generalized tonic-clonic movements and irritability from the second day of life. She does not show improvement with phenobarbital treatment; therefore, x rays and laboratory tests are indicated. Perinatal hypophosphatasia is confirmed. The patient is stabilized and included in a group of experimental enzymatic treatment in Canada |
| Disciplines | Medicina |
| Paraules clau: | Genética, Hipofosfatasia, Movimientos tónico-clónicos, Hallazgos radiológicos |
| Keyword: | Genetics, hypophosphatasia, Tonic-clonic movements, Radiological findings |
| Text complet: | Texto completo (Ver PDF) |
