Snyder-Robinson syndrome
Autops. Case Rep
;
8(3): e2018031, July-Sept. 2018. ilus, tab
Artículo
en Inglés
| LILACS
| ID: biblio-911906
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>T:p.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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Discapacidad Intelectual Ligada al Cromosoma X
Tipo de estudio:
Estudio diagnóstico
Límite:
Child, preschool
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Autops. Case Rep
Asunto de la revista:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Año:
2018
Tipo del documento:
Artículo
País de afiliación:
Estados Unidos
Institución/País de afiliación:
University of Iowa Hospitals and Clinics/US
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