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Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

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Snyder-Robinson syndrome.

Rachel Starks¹, Patricia Kirby¹, Michael Ciliberto²

¹University of Iowa Hospitals and Clinics, Department of Pathology. Iowa City, IA, United States of America.

Autopsy & Case Reports

|September 22, 2018

Summary

This summary is machine-generated.

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Snyder-Robinson syndrome, a rare X-linked intellectual disability, is caused by spermine synthase deficiency. This case highlights key clinical features and the importance of genetic testing for accurate diagnosis.

Area of Science:

Genetics
Neurology
Pediatrics

Background:

Snyder-Robinson syndrome is an X-linked intellectual disability syndrome characterized by specific physical and neurological features.
It is caused by deficiency of the spermine synthase (SMS) enzyme.

Observation:

A pediatric autopsy of a 4-year-old male with diagnosed Snyder-Robinson syndrome is presented.
The patient exhibited intellectual disability, gait abnormalities, multiple fractures, seizures, and an SMS gene mutation (c.831G>T:p.L277F).

Findings:

The cause of death was hypoxic-ischemic encephalopathy, a complication of prolonged seizure activity.
This case underscores the characteristic clinical presentation of Snyder-Robinson syndrome.

Implications:

Keywords:

Intellectual Disability Mental Retardation, X-linked Snyder-Robinson syndrome Spermine Synthase

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Early recognition of clinical findings is crucial for timely genetic testing and diagnosis of this rare syndrome.
Increased awareness may help reduce underdiagnosis of Snyder-Robinson syndrome.