Secuencia de regresión caudal: caso clínico-radiológico / Caudal regression sequence: clinical-radiological case

El síndrome de regresión caudal es una malformación congénita poco frecuente que abarca un gran espectro de formas de presentación. Caracterizado por el compromiso musculoesquelético caudal, se puede asociar a defectos neurológicos, gastrointestinales, renales y genitourinarios. Aunque su etiología aún no se encuentra aclarada, se ha asociado a la presencia de diabetes materna y a mutaciones en el gen homeobox HBLX9. Su diagnóstico se basa en un buen estudio ecográfico prenatal, un examen físico detallado y estudio imagenológico posnatal con radiografía y/o resonancia magnética. El síndrome de regresión caudal requiere un manejo multidisciplinario en el cual el control metabólico de la diabetes gestacional constituye la mejor medida preventiva disponible en la actualidad. Se presenta el caso e imágenes de un recién nacido de término de sexo masculino, hijo de madre diabética pregestacional con mal control metabólico y diagnóstico ecográfico prenatal de malformación de columna lumbar, huesos iliacos y extremidades inferiores. Nace en buenas condiciones y se confirma el diagnóstico de síndrome de regresión caudal mediante estudio radiográfico y resonancia magnética compatibles.

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.

Sirenomelia: A case report

Caudal regression syndrome is a congenital malformation described by various degrees of developmental failure, which the most extreme and rare form is known as sirenomelia or mermaid syndrome. The associated malformations comprise anorectal, vertebral, urological, genital, and lower limb anomalies. We reported pathological findings of sirenomelia in a female stillborn with breech presentation that was born by normal vaginal delivery at 35 weeks of pregnancy following an uneventful pregnancy of a 31-year-old woman. Physical examination at birth showed normal facies, fusion of the lower limbs with bilateral presence of hip, knee, and ankle joints, sacral meningocele, omphalocele, agenesia of female external genitalia, of anus, and of cervical vertebrae. The sirenomelia etiology is still unknown but there are suggestions of genetic and teratogenic factors involvement that were not identified in the present case. The association with the agenesis of cervical vertebrae is rare and only one case described previously in the literature was reported

Sacrococcygeal treatomas in Rawalpindi-Islamabad: poor pickup and referral rate. A retrospective study and review of literature

Sacrococcygeal teratoma is the commonest solid tumor in neonates. Early identification and intervention is important, as the incidence of malignancy rises sharply with age. We retrospectively reviewed these cases presenting to the Islamabad Children's Hospital over a period of four years. A large number [50%] of patients presented late and 29% of these had malignant change. This underscores the need for good pickup and referral services