Snyder-Robinson syndrome
Autops. Case Rep
; 8(3): e2018031, July-Sept. 2018. ilus, tab
Article
em En
| LILACS
| ID: biblio-911906
Biblioteca responsável:
BR26.7
ABSTRACT
Snyder-Robinson syndrome, also known as spermine synthase deficiency, is an X-linked intellectual disability syndrome (OMIM #390583). First described by Drs. Snyder and Robinson in 1969, this syndrome is characterized by an asthenic body habitus, facial dysmorphism, broad-based gait, and osteoporosis with frequent fractures. We report here a pediatric autopsy of a 4 year old male with a history of intellectual disability, gait abnormalities, multiple fractures, and seizures previously diagnosed with Snyder-Robinson syndrome with an SMS gene mutation (c.831G>Tp.L277F). The cause of death was hypoxic-ischemic encephalopathy secondary to prolonged seizure activity. Although Snyder-Robinson syndrome is rare, the need to recognize clinical findings in order to trigger genetic testing has likely resulted in under diagnosis.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Deficiência Intelectual Ligada ao Cromossomo X
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Autops. Case Rep
Assunto da revista:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Brasil