Síndrome de regresión caudal en diabetes materna: reporte de caso / Caudal regression syndrome in maternal diabetes: case report

Resumen ANTECEDENTES: La diabetes mellitus sigue siendo una enfermedad de gran prevalencia mundial; en México alcanza el 13.7% y, de este porcentaje, el 30% ignora que la padece. Esta circunstancia se ha asociado con complicaciones durante el embarazo: malformaciones congénitas por hiperglucemia en el primer trimestre del embarazo y el síndrome de regresión caudal, entre otras. A pesar de los avances en el diagnóstico y tratamiento de esta enfermedad metabólica, estas alteraciones siguen provocando discapacidad, de ahí la importancia de su identificación temprana en el embarazo. CASO CLÍNICO: Paciente de 35 años, primigesta, con diagnóstico de diabetes tipo 2 establecido en el primer trimestre del embarazo, con hemoglobina glucosilada de 7.6%. En el ultrasonido estructural se observaron datos compatibles con el síndrome de regresión caudal y alteraciones severas en las extremidades. Al nacimiento, a las 18 semanas, se confirmó la luxación importante de las extremidades inferiores. CONCLUSIÓN: En la primera consulta prenatal debe practicarse el tamizaje para diabetes, sobre todo en pacientes con alto riesgo. Luego del diagnóstico son importantes los ultrasonidos de segundo nivel para detectar anomalías. La educación a la paciente es decisiva para el adecuado control metabólico y prevención de complicaciones durante el embarazo.

Abstract BACKGROUND: Diabetes mellitus continues to be a disease of high prevalence worldwide; in Mexico it reaches 13.7% and, of this percentage, 30% are unaware that they suffer from it. This circumstance has been associated with complications during pregnancy: congenital malformations due to hyperglycaemia in the first trimester of pregnancy and caudal regression syndrome, among others. Despite advances in the diagnosis and treatment of this metabolic disease, these alterations continue to cause disability, hence the importance of early identification in pregnancy. CLINICAL CASE: 35-year-old primigravida patient with a diagnosis of type 2 diabetes established in the first trimester of pregnancy, with a glycosylated haemoglobin of 7.6%. Structural ultrasound showed data compatible with caudal regression syndrome and severe alterations in the extremities. At birth, at 18 weeks, severe dislocation of the lower extremities was confirmed. CONCLUSION: Screening for diabetes should be performed at the first prenatal visit, especially in high-risk patients. After diagnosis, second level ultrasound is important to detect abnormalities. Patient education is crucial for adequate metabolic control and prevention of complications during pregnancy.

Sirenomelia

Sirenomelia is a rare and fatal congenital defect characterized by varying degrees of lower limb fusion, thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary, and anorectal atresia. We report a case of baby, born with narrow chest, bilateral hypoplastic thumb, fused lower limbs with a single foot and 5 toes, absent external genitalia, imperforate anus and umbilical cord with single umbilical artery. When diagnosed antenatally, termination should be offered

Caudal regression syndrome: A rare case report with review of the literature

Caudal regression syndrome is a very rare neural tube disorder, in which the caudal vertebral column and spinal cord develop abnormally, causing substantial sensory and motor deficits, primarily in the legs. An abnormality in the spinal cord and nerve roots interacts with a section of lumbar, lumbosacral, or coccygeal spinal dysgenesis or agenesis. Here, we present a rare case of caudal regression syndrome in a 3-year-old male child who was brought to the pediatrics department with a serious complaint of urine dribbling since infancy. The infant was discovered with spina bifida, lumbar scoliosis, and cavus deformity in both feet during a routine health check. For which, a neurological opinion was taken. Plain X-ray revealed a partial sacral agenesis, MRI revealed anterior and posterior nerve roots of cauda equina divided into two bundles of fibers due to abnormal path. The lower back and both gluteal areas were underdeveloped. On the basis of radiological findings, a diagnosis of the syndrome was confirmed.

A case of diabetic fetopathy: caudal regression syndrome and associated anomalies

Uncontrolled periconceptional diabetes in mother' can give rise to severe malformation in the offspring. Author describe a case of' diabetic fetopathy' presenting as a case of' Caudal regression syndrome along with cardiovascular, gastrointestinal and genitourinary anomaly. Though most cases of Caudal regression syndrome are sporadic, it is the most specific lesion of diabetic fetopathy. Clinical presentation varies depending on the severity of the neurological lesion along with the presence of other anomalies, most commonly genitourinary malformation. The index case described here had a type IV lumbosacral agenesis with severe bilateral motor and sensory deficits along with D-Transposition of great arteries and Pyloric atresia. Such cases arise due to inadequate prenatal care of diabetic mother, which is not uncommon in developing country like India.

Sirenomelia: A Detailed Fetal Autopsy Study.

Sirenomelia also known as mermaid syndrome, characterized by fused lower limbs, is a lethal and rare congenital abnormality. This is an extreme example of caudal regression syndrome caused by vascular steal of single umbilical artery. Sirenomelia is found approximately one in 100,000 live births and is usually fatal because of complications associated with pulmonary hypoplasia, abnormal development of the kidneys and urinary bladder. Most of the cases are associated with maternal diabetes and single umbilical artery. We report a case of sirenomelia terminated at 21weeks of gestation due to multiple congenital abnormalities. Antenatal scan of a25-year old primi revealed a single live fetus of 21 weeks gestation with severe olighydramnios, non-visualization of kidneys and bladder and lower part of the spine. This pregnancy was terminated and the specimen sent to the department of anatomy for fetal autopsy. On external examination,a tail like rudimentary single midline lower limb without foot was noted. There were no external genitalia and anal orifice. Internal examination revealed hypoplastic lungs, atrial septal and ventricular septal defects, aberrant right subclavian artery, hypoplastic abdominal aorta distal to the single umbilical artery, complete agenesis of urinary system, rectal agenesis and rudimentary indeterminate gonads. We would like to discuss the clinical features, etio- pathogenesis and review of literature of sirenomelia. Early diagnosis and termination of this lethal congenital anomaly results in minimizing the trauma related to the termination of pregnancy at advanced gestation.

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.

Caudal regression syndrome (sirenomelia) and its pathogenesis correlation: a case report.

Congenital anomaly characterized by an abnormal development of caudal region of the body with different degrees of fusion of lower extremities, bears resemblance of Sirenomelia or mermaid of Greek Mythology. This type of deformity is also known as Symmelia, Symposia, Sympus, Uromelia and Monopodia. It is associated with the single umbilical artery. It is associated with severe malformations of urogenital i.e. renal agenesis and absence of both internal and external genitalia. The aim of this study is to present, a rare congenital malformation Sirenomelia. In this context, we report a case of Sirenomelia illustrating the prenatal sonographic and pathological features. In our study 25 years old primigravida gave birth to still born full term baby, sex could not be identified. The specimen was collected from private nursing home at Ongole, no relevant history of consanguineous marriage or tobacco smoking or drugs taking etc. Fetal USG, X-ray & CT were taken after birth. Fetal autopsy was done; the gonad, thymus and umbilical cord were sent to histopathological examination. The etiopathogenesis and characteristic features of Sirenomelia were discussed with the findings and review of the literature.

Simpus Apus Sirenomelia – A case report of a rare congenital anomaly.

Sirenomelia, also known as “mermaid syndrome”, is a rare congenital deformity of uncertain etiology. Sirenomelia is characterized by complete or partial fusion of lower limbs, giving the appearance of the tail of a ‘mermaid’. This syndrome is almost always lethal due to associated congenital visceral abnormalities such as severe lung hypoplasia, and abnormalities of the kidneys, large intestines, and genitalia. We hereby, report a case of sirenomeila due to rarity of this condition and term live birth.

Caudal regression syndrome: a rare case report.

Caudal regression syndrome is a rare disorder characterised by abnormal development of structures in the caudal region of the embryo like lower lumbar and sacral vertebrae, urogenital and lower gastrointestinal system. It is secondary to abnormal development of mesoderm. Multiple hypotheses like genetic, metabolic and vascular hypoperfusion have been proposed as etiologies. It can be picked up in early second trimester by ultrasound. It has a higher incidence in diabetic pregnancies.

Agenesia sacra asociada a disrrafismo espinal e hidrocefalia / Sacra agenesia associated to spinal dysraphism and hydrocephaly

Introducción: la agenesia sacra es una malformación congénita rara que forma parte del síndrome de regresión caudal. Se caracteriza por un grupo de anomalías en las cuales la columna caudal está ausente. Esta enfermedad es la malformación más frecuente en los hijos de madres diabéticas, además se ha relacionado con otros factores predisponentes, como deficiencias de ácido fólico, de vitaminas, uso de insulina en el embarazo, e incluso, la hipoxia. Entre un 30-40 por ciento de pacientes con agenesia sacra completa, pueden tener asociado un mielomeningocele, y el desplazamiento de las raíces nerviosas empeora los trastornos neurológicos. En estos casos, la hidrocefalia, muchas veces también asociada a malformación Chiari tipo II, está ya presente al nacer. Caso clínico: se presenta el caso de un neonato con agenesia sacra asociada a disrrafismo espinal e hidrocefalia. La intervención quirúrgica fue precoz, se le colocó derivación ventrículo peritoneal y se realizó la reparación del defecto del tubo neural. La evolución posoperatoria fue favorable, aunque persistieron los déficits neurológicos preoperatorios. Conclusiones: no se hallaron factores predisponentes en este paciente y el análisis del cariotipo fue normal. Las anomalías óseas de miembros inferiores fueron las más llamativas, así como la presencia de hidrocefalia asociada a malformación Chiari tipo II y mielomeningocele. El tratamiento a estos casos requiere de un enfoque multidisciplinar, y la reparación quirúrgica del mielomeningocele debe ser precoz para conseguir una evolución favorable. Las formas graves pueden ocasionar una muerte temprana neonatal, en cambio, los niños que sobreviven, generalmente presentan inteligencia normal

Introduction: sacra agenesia is a rare congenital malformation as part of the caudal regression syndrome. It is characterized by a group of anomalies in which the caudal cord is absent. This disease is the most common malformation found in children from diabetic mothers but it has also been related to other predisposing factors such as folic acid deficiencies, vitamin deficiencies, use of insulin at pregnancy and even hypoxia. Thirty to forty percent of patients with complete sacra agenesia can also have myelomeningocele, and the displacement of nerve roots worsens the neurological disorders. In these cases, hydrocephaly, many times associated to Chiari malformation type II, is also present at birth. Clinical case: a neonate with sacra agenesia associated to spinal dysraphism and hydrocephaly. Surgical intervention was performed early, a peritoneal ventricular derivation was placed and the neural tube defect was repaired. The post-surgery evolution was favorable, but the preoperative neurological deficits persisted. Conclusions: there were no predisposing factors in this patient and the analysis of the cariotype was normal. The bone anomalies of the lower members were the most remarkable aspects as well as the hydrocephaly associated to Chiari malformation type II and myelomeningocele. The treatment of these cases requires multidisciplinary approach and surgical repair of the myelomeningocele at early phase to achieve favorable evolution. The most severe forms can cause early neonatal death; however, those surviving children generally present normal intelligence coefficient

Secuencia de displasia caudal: Estudio clínico y radiológico de un paciente / Caudal dysplasia sequence: Clinical and radiological study of a patient

La secuencia de displasia caudal (SDC), denominada también síndrome de regresión caudal y síndrome de agenesia sacra, es una malformación congénita poco frecuente, que incluye principalmente agenesia con extensión variable de cuerpos vertebrales distales lumbosacrococcígeos y/o sacrococcígeos. En este trabajo se presentan criterios diagnósticos por imagen, clasificación y estudio de un caso clínico.

Caudal dysplasia sequence (CDS), also called caudal regression syndrome and syndrome of sacral agenesis is a rare congenital malformation, which includes agenesis with variable extension of lumbo-sacral-coccygeal distal and sacrococcygeal vertebral bodies. In this article we review diagnostic criteria, classification and report a clinical case.

Sirenomelia: A Rare Entity

Sirenomelia also called as Mermaid Syndrome, is a rare congenital malformation of uncertain aetiology. It is characterised by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformation. It should be suspected in antenatal period in cases presenting with severe oligohydramnios and intra-uterine growth retardation. Here, we report a case of sirenomelia in a 26th weeks foetus.

Sirenomelia: A Rare Entity.

Sirenomelia also called as Mermaid Syndrome, is a rare congenital malformation of uncertain aetiology. It is characterised by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformation. It should be suspected in antenatal period in cases presenting with severe oligohydramnios and intra-uterine growth retardation. Here, we report a case of sirenomelia in a 26th weeks foetus.

A Case of Caudal Regression Syndrome Diagnosed by Prenatal Ultrasonography / 대한산부인과학회지

Caudal regression syndrome is rare malformative syndrome characterized by lower vertebral agenesis, accompanied by abnormalities of the pelvis, lower extremities and urogenital malformation. Although the cause is not clear, hyperglycemia during the organogenesis may be important teratogen. Strict evaluation of diabetes and its control in preconception and early pregnancy are important to prevent this malformation. And ultrasonography in the first trimester should be recommended for early detection of this syndrome. We report a case of caudal regression syndrome detected by prenatal ultrasonography of the gestational diabetic mother.

A Case of Caudal Regression Syndrome in the Newborn of the Diabetic Mother / 대한산부인과학회잡지

The Caudal regression syndrome is characterized by sacrococcygeal or lumbosacrococcygeal agenesis, of variable extent, most often accompanied by multiple musculoskeletal abnormalities of the pelvis and legs. It is rare fetal complication of diabetic pregnancy. Although the exact teratogenic mechanism is not known, hyperglycemia appears to play a crucial role as a teratogen. Strict control of diabetes preconceptually and in early pregnancy is presumed to reduce the risk of occurrence. We report a case of caudal regression syndrome detected by pelvic radiography and MRI in the newborn of the diabetic mother.