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Case Reports
. 2023 Jul 24;23(1):374.
doi: 10.1186/s12887-023-04166-z.

Fatal leukodystrophy in Costello syndrome: a case report

Virgilio E Failoc-Rojas  1 , Piero A Quiroz Ugaz  2 , Dante A Loconi León  2 , Sandra Zeña-Ñañez  3
Affiliations
Case Reports

Fatal leukodystrophy in Costello syndrome: a case report

Virgilio E Failoc-Rojas et al. BMC Pediatr. .

Abstract

Background: Costello syndrome (CS) is a rare genetic condition characterized by dysregulation of the signaling pathway, phenotypic alteration due to fetal macrosomia or growth retardation, facial abnormalities, loose skin, cardiovascular abnormalities, and a variable degree of intellectual disability.

Case presentation: We describe the case of a 20-month-old male patient with fetal macrosomia and polyhydramnios, presenting psychomotor development delay and growth limitation during the first months of life. CS was diagnosed at four months of age after detecting a variant of the HRAS gene c.35G > C (p.G12A). A clinical description of his condition was recorded throughout his life, including cardiovascular diseases, endocrine disorders, and recurrent infections. At 20 months of age, after presenting events of marked hypotonia and generalized seizures, brain magnetic resonance revealed symmetrical lesions of the infra- and supratentorial white matter in both cerebral hemispheres, which resulted in the diagnosis of cerebral leukodystrophy. The patient had a rapid and progressive deterioration that eventually led to death.

Conclusions: This is the first report of a case of CS in Peru. In addition, this is a case that presented with multisystemic conditions culminating in leukodystrophy, which is a rare event according to the literature.

Keywords: Costello syndrome; HRAS gene; Infant; Leukodystrophy; Multisystem involvement.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Weight-for-age centile values for the patient with Costello syndrome
Fig. 2
Fig. 2
Photograph of the patient showing facial appearance of Costello syndrome. A Thick eyebrows. B Ulnar deviation of hands. C Low-set ear, large pinna
Fig. 3
Fig. 3
Magnetic resonance imaging. Cross-sectional area of the brain of the patient with Costello syndrome. Infra and supratentorial white matter involvement. A T1-weighted sequence. B T2-weighted sequence
See this image and copyright information in PMC

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