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[Infant with intracranial calcifications and retinopathy]
J Hidalgo-Sanz1, R Perez-Delgado2, I Garcia-Jimenez1
1HUMS. Hospital Universitario Miguel Servet, 50009 Zaragoza, Espana.
Revista De Neurologia
|September 28, 2019
Summary
Coats plus syndrome, a rare genetic disorder, presents with vision loss and neurological issues like intracranial calcifications. Early diagnosis via genetic testing is crucial for managing this severe condition.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- Intracranial calcifications have diverse etiologies, necessitating a broad differential diagnosis.
- While common causes are prioritized, rare genetic disorders like Coats plus syndrome must be considered.
Observation:
- A premature infant presented with retinopathy and later developed hemiparesis.
- Neuroimaging revealed extensive intracranial calcifications and cystic lesions, initially suspected as a neoplasm.
Findings:
- Coats plus syndrome was diagnosed based on the association of retinopathy and neurological findings.
- Genetic analysis identified novel heterozygous variants in the CTC1 gene, confirming the diagnosis.
Implications:
- This case highlights the importance of considering rare genetic conditions in complex pediatric presentations.
- Identifying new CTC1 variants expands the understanding of Coats plus syndrome genetics and diagnostics.
