Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome.
J Pediatr Hematol Oncol
; 32(6): 494-6, 2010 Aug.
Article
en En
| MEDLINE
| ID: mdl-20661159
ABSTRACT
SUMMARY:
A preterm neonate, born to consanguineous parents, presented with respiratory distress, intracerebral hemorrhage, and a silvery-gray sheen of the hair and eyelashes. Griscelli syndrome (GS) type 3 was diagnosed after the detection of a novel homozygous mutation of the melanophilin gene. Thus, only the hypopigmentation, but not the patient's other clinical features, were attributable to this form of GS. Differential diagnosis of the various forms of GS must be performed as early as possible as GS2 is associated with a life threatening but curable immune disorder.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Dificultad Respiratoria del Recién Nacido
/
Hemorragia Cerebral
/
Piebaldismo
/
Proteínas Adaptadoras Transductoras de Señales
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
/
Humans
/
Newborn
Idioma:
En
Año:
2010
Tipo del documento:
Article