Facultad de Medicina, Universidad Cesar Vallejo, Raúl Mata La Cruz s/n, Piura, 20001, Perú, Peru.
Universidad Nacional Pedro Ruiz Gallo, 391 Juan XXIII Avenue, Lambayeque, 14013, Perú, Peru.
BMC Pediatr. 2023 Jul 24;23(1):374. doi: 10.1186/s12887-023-04166-z.
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.
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.
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.
Costello 综合征（CS）是一种罕见的遗传性疾病，其特征为信号通路失调、由于胎儿巨大儿或生长迟缓引起的表型改变、面部异常、皮肤松弛、心血管异常以及不同程度的智力残疾。
我们描述了一名 20 个月大的男性患者的病例，该患者存在胎儿巨大儿和羊水过多，在生命的头几个月表现出精神运动发育迟缓且生长受限。在四个月大时，通过检测 HRAS 基因 c.35G>C（p.G12A）的变异，诊断出 CS。在他的一生中，对他的病情进行了临床描述，包括心血管疾病、内分泌紊乱和反复感染。在 20 个月大时，在出现明显的低张力和全身性癫痫发作后，脑部磁共振显示双侧大脑半球的皮质下和皮质下白质对称性病变，最终诊断为脑白质营养不良。患者病情迅速恶化，最终导致死亡。
这是秘鲁首例 CS 病例报告。此外，这是一例表现为多系统疾病最终导致脑白质营养不良的病例，根据文献报道，这种情况较为罕见。
