title: [Caudal regression sequence: clinical-radiological case].
abstract: Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance.
authors.affiliation: Programa de Especialización en Pediatría, Universidad de Chile, Hospital San Borja Arriarán, Santiago, Chile. Electronic address: juanzepedatoro@gmail.com.
authors.forename: Juan
authors.initials: J
authors.lastname: Zepeda T
authors.affiliation: Unidad de Neonatología, Hospital San Borja Arriarán, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Mirna
authors.initials: M
authors.lastname: García M
authors.affiliation: Universidad Católica del Maule, Talca, Chile.
authors.forename: Jorge
authors.initials: J
authors.lastname: Morales S
authors.affiliation: Programa de Especialización en Pediatría, Universidad de Chile, Hospital San Borja Arriarán, Santiago, Chile.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Pantoja H
authors.affiliation: Servicio de Radiología, Hospital San Borja Arriarán, Santiago, Chile.
authors.forename: Aníbal
authors.initials: A
authors.lastname: Espinoza G
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D000328:Adult; D016640:Diabetes, Gestational / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008159:Lumbar Vertebrae; D008297:Male; D008588:Meningocele / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D011247:Pregnancy; D012445:Sacrococcygeal Region / Q000002:abnormalities* / Q000503:physiopathology; D016216:Ultrasonography, Prenatal / Q000379:methods*
keywords: Caudal regression syndrome; Congenital malformation; Diabetes mellitus; Gen HBLX9; HBLX9 gene; Malformación congénita; Síndrome de regresión caudal