A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review - Scorecard - MDSpire
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A homozygous splice-site variant in SAMHD1 shows variable expressivity of Aicardi-Goutières Syndrome Type 5: a case report and literature review
Clinical Scorecard: A case report and literature review on a homozygous splice-site variant in SAMHD1 revealing variable expressivity in Aicardi-Goutières Syndrome Type 5
At a Glance
Category
Detail
Condition
Aicardi-Goutières Syndrome Type 5 (AGS5)
Key Mechanisms
Loss-of-function variants in the SAMHD1 gene
Target Population
Pediatric patients with early-onset neurodevelopmental delay
Care Setting
Pediatric neurology and genetics
Key Highlights
AGS5 is characterized by microcephaly, leukodystrophy, and developmental delay.
Phenotypic heterogeneity includes atypical systemic manifestations.
A homozygous splice-site variant in SAMHD1 was identified in affected siblings.
Affected individuals presented with neurodevelopmental delay but lacked spasticity and seizures.
Importance of considering AGS in children with congenital microcephaly.
Guideline-Based Recommendations
Diagnosis
Whole-exome sequencing to identify pathogenic variants in SAMHD1.
Management
Supportive care focusing on developmental and educational needs.
Monitoring & Follow-up
Regular neurodevelopmental assessments and supportive therapies.
Risks
Potential for variable expressivity and atypical presentations.
Patient & Prescribing Data
Children with congenital microcephaly and neurodevelopmental impairment.
No specific treatments; management is supportive.
Clinical Best Practices
Consider genetic testing in cases of unexplained neurodevelopmental delay.
Monitor for developmental milestones and provide early intervention services.
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