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Fatal leukodystrophy in Costello syndrome: a case report
Virgilio E Failoc-Rojas1, Piero A Quiroz Ugaz2, Dante A Loconi León2
1Facultad de Medicina, Universidad Cesar Vallejo, Raúl Mata La Cruz s/n, Piura, 20001, Perú, Peru. virgiliofr@gmail.com.
BMC Pediatrics
|July 24, 2023
Summary
Costello syndrome (CS) is a rare genetic disorder. This case highlights a rare presentation of CS with multisystemic conditions, including leukodystrophy, a finding not previously reported in Peru.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Costello syndrome (CS) is a rare genetic disorder.
- Characterized by RAS/MAPK pathway dysregulation.
- Associated with fetal macrosomia, growth retardation, facial abnormalities, cardiovascular issues, and intellectual disability.
Observation:
- A 20-month-old male presented with fetal macrosomia, polyhydramnios, psychomotor delay, and growth limitation.
- Diagnosed with CS at four months due to a HRAS gene variant (c.35G>C, p.G12A).
- Clinical course included cardiovascular diseases, endocrine disorders, recurrent infections, hypotonia, and seizures.
Findings:
- Brain MRI revealed symmetrical infra- and supratentorial white matter lesions, leading to a leukodystrophy diagnosis.
- The patient experienced rapid, progressive deterioration.
- This is the first reported case of CS in Peru.
Implications:
- This case underscores the potential for multisystemic manifestations in CS.
- The development of leukodystrophy in CS is a rare event, expanding the known clinical spectrum.
- Highlights the importance of early diagnosis and comprehensive management of genetic disorders.
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