Complex neural tube and skeletal malformations, resembling Chiari malformations, in two calves.

Two 1-day-old full-term female calves from different farms located in the Brazilian state of Rio Grande do Sul were unable to stand due to paresis of the pelvic limbs. Both calves had spina bifida on the spinal lumbar segment and were submitted to euthanasia due to poor prognosis. Postmortem examination revealed cerebellar herniation, caudal displacement of the brainstem, rostral deviation of the cranial nerves, caudal extension of occipital lobes, absence of dorsal lamina of lumbar vertebrae with exposed spinal cord, myelodysplasia, kyphosis, segmental spinal agenesis, renal fusion, muscular atrophy, and arthrogryposis. Histology highlighted myelodysplasia (syringomyelia and diplomyelia) and muscular atrophy. The reverse transcription-polymerase chain reactions for ruminant pestivirus were negative. Based on these lesions, the diagnosis of complex neural tube and skeletal malformations was made. A review of previous publications on calves diagnosed with these malformations, originally called Chiari or Arnold-Chiari malformations, revealed a wide range of nervous system and skeletal lesions. These variations amplified the uncertainty regarding whether all cases represent the same disorder and reinforced the importance of reconfiguring the terminology.

Neural tube defects: Prevalence, mortality, and maternal characteristics in two departmental hospitals in the northwestern region of Nicaragua, 2006-2018.

BACKGROUND: Congenital anomalies are the fifth most common cause of neonatal mortality in Nicaragua, and neural tube defects (NTDs) are the most common of all cases of lethality associated with a birth defect. Prevalence and mortality estimates are needed to propose effective intervention strategies that prevent NTDs over time. METHODS: A cross-sectional study was carried out in northwestern Nicaragua from January 2006 to December 2018. All cases of NTDs (anencephaly, spina bifida, and encephalocele) were registered in hospital surveillance systems, and the medical histories of the mothers and newborns were reviewed. Prevalence was calculated by considering the number of live births and stillbirths older than 20 weeks of gestation with NTDs, divided by the total number of live births and stillbirths in each study year. Neonatal mortality rate (NMR) for NTD, and case fatality for spina bifida was calculated. RESULTS: Two hundred fifty cases of NTDs were identified from 178,498 deliveries (177,316 live births and 1,182 stillbirths). The prevalence of NTDs during this time period was 14.01 (95% CI: 12.27-15.74) per 10,000 births. The prevalence of spina bifida (n = 140), anencephaly (n = 97), and encephalocele (n = 13) was 7.84, (95% CI: 6.54-9.14), 5.43 (95% CI: 4.30-6.45), and 0.73 (95% CI: 0.33-1.12) per 10,000 births, respectively. Mothers with fetus or newborns affected with NTDs did not use folic acid prior to conception, and 11% experienced periods of hyperthermia during the first trimester of pregnancy. NMR for NTDs was 0.55 per 1.000 livebirths. Case fatality for all NTDs and for spina bifida were 55% and 18%, respectively. CONCLUSION: The prevalence and mortality of NTDs in the northwestern region of Nicaragua present peaks and troughs during the study period. Spina bifida was the most frequent type of NTD. We believe that these findings could be of use by health policy makers to strengthen the primary prevention of NTDs in the region through the monitoring of the food fortification policy and folic acid supplementation to women of childbearing age. Additional etiologic studies of NTDs should be considered to identify additional prevention measures.

The First Case of Fetus in Fetu in Nicaragua: The Management Experience of the Pediatric Neurosurgery Team.

Fetus in fetu (FIF) is a rare congenital anomaly of asymmetric monozygotic twins, where the parasitic twin develops abnormally inside the body of the host twin. In most cases, it is incorporated into the sibling's abdomen, which frequently presents as a retroperitoneal mass. Currently, at least 200 cases have been reported worldwide, being this the first case in Nicaragua. We describe a case of a male newborn, born via cesarean section, with a history of multiple congenital malformations observed via ultrasound examination. At birth, a mass is observed on its dorsum that impresses a skull, but without the presence of bones, with three limbs, two upper and one lower, with an outline located transversely on the pelvic girdle and the presence of two male genitalia with agenesis of the testicles and an accessory kidney. A preoperative diagnosis of FIF and spinal dysraphism was made by computed tomography (CT) and magnetic resonance imaging (MRI). They shared a spinal cord and had the presence of an open spinal defect type meningocele with aberrant roots. After the diagnosis and discussion, the multidisciplinary team proceeded to surgery to perform the separation of the twin (FIF). The subsequent anatomopathological examination revealed that the fetus was anencephalic and had reliable FIF characteristics. The resection was performed followed by the closure of the 430 mL meningocele and complete separation of the spine and the parasitic twin. We present the first case of fetus in fetu in Nicaragua.

Terminal myelocystocele: Surgical management.

Background: The authors describe clinical and imaging findings, surgical technique, and outcomes in myelocystocele. Methods: We describe a surgical procedure performed in six patients, four males and two females, with myelocystocele treated at our hospital. We review the images obtained at the time of diagnosis and after surgery. The patients' age range was 12-56 months and had undergone surgery for terminal myelocystocele between 2015 and 2020. All patients had a large lumbar mass covered with healthy skin and presented spontaneous movements at birth. Two patients presented VACTERL syndrome. Results: A watertight closure of the soft tissues was performed in all cases. None of the patients presented postsurgical complications, such as cerebrospinal fluid leak or infection. All the patients had undergone excision of the meningocele sacs, the tethering bands were lysed, and the filum was detethered. The mean follow-up period was 34 (12-56) months. A motor deficit was seen in 2 patients (33.3%). Conclusion: Prenatal diagnosis and early corrective surgical intervention are recommended to prevent deterioration in neurological function. VACTERL association is a common condition and should be investigated.

Open fetal myelomeningocele repair at a university hospital: surgery and pregnancy outcomes.

PURPOSE: Myelomeningocele (MMC) is an open neural tube defect that causes great morbidity. Prenatal open repair is the standard treatment; however, there are many complications related to the procedure. This study reports preliminary findings of open in utero repair of MMC in a public tertiary hospital in Brazil and describes factors that could be associated with increased surgical morbidity. METHODS: Thirty-nine patients underwent open in utero repair of MMC from October 2015 to August 2019. The Clavien-Dindo classification of surgical complications and a classification system with the preterm definitions of the World Health Organization were used, respectively, for maternal and fetal complications. RESULTS: A total of 28 mothers (71.8%) and 31 fetuses (79.5%) experienced at least one minor to major complication. Three mothers (7.7%) had a severe grade 4 complication. Fetal complications grades 3 to 5 occurred in 13 fetuses (33.3%). Gestational age at surgery and at birth were 24.88 ± 1.16 weeks and 33.23 ± 3.68 weeks, respectively. Preterm delivery occurred in 30 patients (76.9%), membrane rupture in 18 patients (46.2%) and chorioamnionitis in 13 patients (33.3%). CONCLUSION: Open fetal surgery for MMC was performed at a Brazilian public tertiary care center, resulting in three grade 4 maternal complications. Relevant fetal complications were also present. The use of a standard classification system for complications renders studies more comparable and data more useful for counseling patients. Adjustments of perioperative procedures and long-term follow-up are needed to determine the real benefit of open in utero repair of MMC at our hospital.

An Unusual First-Trimester Ultrasound Presentation of the Acrania-Anencephaly Sequence: The "Turkish Turban" Sign.

A previously unrecognized first-trimester presentation of the acrania-anencephaly sequence is described. Ultrasound features included a constriction ring around the external base of the developing skull and an enlarged globular head, resembling a Turkish turban, with large cystic spaces replacing the brain. This constellation of findings was noted in 3 first-trimester fetuses. In 2 of them, it was possible to identify the amniotic membrane attached to the constriction ring. One case presented with anencephaly and fetal demise at 16 weeks. The other 2 women terminated the pregnancies and aborted anencephalic fetuses. This subtype of the acrania-anencephaly sequence could represent an earlier segmental rupture of the amnion, which subsequently entraps the developing fetal skull.

Surgical Repair of an Occipital Meningocele in a Foal.

There are no previous reports of cranial meningocele in horses. In this report, we present the case of a 1-day-old male Quarter Horse that was born with a mass in the occipital region. The newborn was brought to the veterinary hospital, and a meningocele was diagnosed. The patient then underwent surgical closure of the defect. After an initial favorable response, the patient displayed signs of infection. The antibiotic therapy was changed, and the patient's condition improved. On the 13th postoperative day, the patient exhibited ataxia, difficulty standing, and limb hypertonia. Hydrocephalus was suspected, and a cerebrospinal puncture was performed. Because of the lack of improvement after the puncture and the high turbidity of the obtained fluid, bacterial encephalitis was suspected and antibiotic therapy restarted. The patient was euthanized on the 14th postoperative day when no response to therapy was observed. Postmortem tomography and magnetic resonance imaging showed dilation of the encephalic ventricles with the presence of gas. On necropsy, bacterial encephalitis was confirmed, and multidrug-resistant Escherichia coli was isolated. This case suggests that surgical treatment of meningocele in horses is feasible; however, infectious complications may limit the long-term therapeutic success.

Prevalence of low folate deficiency after wheat flour supplementation - should we still measure serum folate?

OBJECTIVES: To determine the frequency of folic acid deficiency in consecutive serum folate determinations and to determine whether there was a significant decrease in serum folate deficiency after folate was added to wheat flour. METHODS: A retrospective descriptive observational study was performed of consecutive folate measurements at the Hospital Privado Universitario, Cordoba, Argentina. RESULTS: Two cohorts were analyzed: 1197 folate measurements between 2001 and 2008 (before supplementation) and 3335 folate measurements from 2009 to 2014 (after supplementation). Folate deficiency was found in 84/1197 (7%) subjects in the pre-supplementation group and in 58/3335 (1.73%) after supplementation. The prevalence of folate deficiency was 12% between 2001 and 2003 when folate was not added to flour compared to 4% in 2004-2007 (p-value < 0.0001) when folate was added to the flour but no widespread use was documented. CONCLUSIONS: In the studied population, the prevalence of serum folic acid deficiency after folate supplementation was low at 1.73%. There was a significant decrease in folate deficiency after folate was added to wheat flour. Given the low prevalence of folic acid deficiency observed in this and similar studies, and the observed change with supplementation, we conclude that routine measurement of serum folate is of limited clinical use.

Prevalence of low folate deficiency after wheat flour supplementation - should we still measure serum folate?

ABSTRACT Objectives: To determine the frequency of folic acid deficiency in consecutive serum folate determinations and to determine whether there was a significant decrease in serum folate deficiency after folate was added to wheat flour. Methods: A retrospective descriptive observational study was performed of consecutive folate measurements at the Hospital Privado Universitario, Cordoba, Argentina. Results: Two cohorts were analyzed: 1197 folate measurements between 2001 and 2008 (before supplementation) and 3335 folate measurements from 2009 to 2014 (after supplementation). Folate deficiency was found in 84/1197 (7%) subjects in the pre-supplementation group and in 58/3335 (1.73%) after supplementation. The prevalence of folate deficiency was 12% between 2001 and 2003 when folate was not added to flour compared to 4% in 2004-2007 (p-value < 0.0001) when folate was added to the flour but no widespread use was documented. Conclusions: In the studied population, the prevalence of serum folic acid deficiency after folate supplementation was low at 1.73%. There was a significant decrease in folate deficiency after folate was added to wheat flour. Given the low prevalence of folic acid deficiency observed in this and similar studies, and the observed change with supplementation, we conclude that routine measurement of serum folate is of limited clinical use.

Fetal Myelomeningocele Repair through a Mini-Hysterotomy.

OBJECTIVE: To present the feasibility of fetal myelomeningocele (MMC) repair through a mini-hysterotomy and to describe the perinatal results from our initial experience. METHODS: A descriptive study of cases of fetal MMC correction via mini-hysterotomy performed between 2014 and 2016. RESULTS: Forty-five women underwent fetal surgery and 87% (39/45) delivered. A complete multilayer correction of the MMC was possible in all cases. There were no maternal, fetal or neonatal deaths. No maternal or fetal complications occurred from fetal MMC correction until maternal hospital discharge. The average gestational age (GA) at surgery was 24.5 weeks (standard deviation, SD: 1.7; range: 20.7-26.9). The median hysterotomy length was 3.05 cm (SD: 0.39; range: 2.50-3.50). One patient (1/39; 2.6%) experienced chorioamniotic separation. Nine patients (9/39; 23.1%) had premature preterm rupture of membranes at a median GA of 34.1 weeks (range: 31.1-36.0). The average GA at delivery was 35.3 weeks (SD: 2.2; range: 27.9-39.1). Ninety-five percent (37/39) of our patients had an intact hysterotomy site at delivery. Ventriculoperitoneal shunt placement was necessary for 7.7% (3/39) of the neonates. CONCLUSION: Fetal MMC repair is feasible through a mini-hysterotomy. This approach appears to be associated with reduced risks of very preterm delivery and maternal, fetal and neonatal complications.

Polimorfismo C677T del gen de la metilentetrahidrofolato reductasa en madres de niños afectados con defectos del tubo neural / C677T polymorphism of the methylentetrahydrofolate reductase gene in mothers of children affected with neural tube defects.

Los defectos del tubo neural (DTN) son las alteraciones congénitas más frecuentes del sistema nervioso central. El mecanismo de transmisión hereditario de los DTN aislados es multifactorial, se debe a la interacción de factores ambientales y genéticos. El polimorfismo 677C>T del gen de la metilentetrahidrofolato reductasa (MTHFR) ha sido implicado como factor de riesgo para DTN. El objetivo de este trabajo fue investigar la asociación del polimorfismo 677C>T del gen de la MTHFR como factor de riesgo en los DTN. Se analizaron muestras de ADN de 52 madres con antecedente de al menos un hijo con DTN y de 119 madres controles. A través de la reacción en cadena de la polimerasa se amplificó un fragmento de 198 pb, el cual se sometió a digestión con la enzima HinfI. La frecuencia alélica de la MTHFR en los grupos problema y control fue de 51,92% y 34,45%; para el alelo T y 48,08% y 65,55%; para el C respectivamente. Se encontró diferencia significativa entre las frecuencias del alelo T y del alelo C (p: 0,002), así como entre las frecuencias genotípicas (p: 0,007) al ser comparadas en ambos grupos. El odds ratio (OR) para el genotipo TT vs CC se estimó como OR: 4,9 [IC 95%: 1,347-6,416] p: 0,002; CT+TT vs CC: OR: 2,9 [IC 95%: 1,347-6,416] p: 0,005; TT vs CT+CC: OR: 2,675 [IC 95%: 1,111-6,441] p: 0,024. Los presentes datos aportan una asociación significativa entre el polimorfismo 677C>T de la MTHFR y riesgo aumentado en las madres con antecedente de hijos con DTN.

Neural tube defects (NTD) are the most common congenital anomalies of the central nervous system, with a multifactorial pattern of inheritance, presumably involving the interaction of several genetic and environmental factors. The methylenetetrahydrofolate reductase (MTHFR) gene 677C>T polymorphism has been implicated as a risk factor for NTD. The main objective of this research was to investigate the association of the 677C>T polymorphism of the MTHFR gene as a genetic risk factor for NTD. Molecular analysis was performed in DNA samples from 52 mothers with antecedent of NTD offspring and from 119 healthy control mothers. Using the Polymerase Chain Reaction, a 198 bases pairs fragment was digested with the restriction enzyme HinfI. 677T MTHFR allele frequencies for the problem and the control groups were 51.92% and 34.45%, respectively, and 677C MTHFR allele frequencies were 48.08% and 65.55%, respectively. There were significant differences in allele (p: 0.002) and genotype (p: 0.007) frequencies between these two groups. The odds ratio (OR) to the TT genotype vs the CC genotype was estimated as OR: 4.9 [95% CI: 1,347-6.416] p: 0.002; CT+TT vs CC: OR: 2.9 [95% CI: 1.347-6.416] p: 0.005; TT vs CT+CC: OR: 2.675 [95% CI: 1,111-6.441] p: 0.024. The data presented in this study support the relationship between MTHFR 677C>T polymorphism and risk in mothers with antecedent of NTD offspring.

Iniencephaly: Case Report.

The iniencephaly involves a variable defect in the occipital bone, resulting in a large foramen magnum, partial or total absence of the cervical and thoracic vertebrae, accompanied by incomplete closure of arcs and/or vertebral bodies, significant shortening of the spinal column and hyperextension of the malformed cervicothoracic spine; the individual's face is deviated upward, the mandibular skin is directly continuous with anterior thorax due to the absence of neck. Its incidence is about 1:1000-1:2000 births, so this is a pretty rare neural tube defect. We present a case of iniencephaly in association with cardiovascular, spinal cord, and intracranial malformations that ended demonstrating the low survival of patients affected with this condition.

Asociación entre diastematomielia y meduloepitelioma: reporte de un caso y revisión de la literatura / Association between diastematomyelia and medullo epithelioma: case report and literature review

Aim: Case report of association between diastematomyelia and medulloepithelioma. Method: 14-year-old patient with lower back pain and recent neurological deficit in extremities. CT and MRI scans of the thoracolumbar spine revealed a diastematomyelia. Intraoperative examination confirmed the presence of a spinal dysraphism and associated tumor, which was almost completely resected. Result: Histopathological and immunohistochemical findings were consistent with medulloepithelioma. Her postoperative course was uneventful. Conclusion: Diastematomyelia may manifest during adolescence as lower back pain and neurological deficit. The association of this malformation with a neoplasia is extremely rare; the present case describes concomitance with medulloepithelioma.

Reporte de un caso de asociación de diastematomielia y meduloepitelioma. Método: Paciente de 14 años con dolor lumbar y déficit neurológico en extremidades de reciente instalación. En TAC y RNM de columna dorsolumbar se pesquisa una diastematomielia. La exploración intraoperatoria, comprueba la presencia de una disrafia espinal y un tumor asociado al defecto, que se reseca casi en su totalidad. Resultado: Los hallazgos histopatológicos e inmunohistoquímicos son concordante con meduloepitelioma. La paciente tuvo un postoperatorio satisfactorio. Conclusión: La diastematomielia se puede manifestar durante la adolescencia como dolor lumbar y déficit neurológico. La asociación de esta malformación, con una neoplasia es muy poco frecuente, el presente caso describe la concomitancia con un meduloepitelioma.

Dietary intake of choline and neural tube defects in Mexican Americans.

BACKGROUND: Low maternal intake of dietary choline and betaine (a choline derivative) has recently been investigated as a possible risk factor for neural tube defects (NTDs). METHODS: This case-control study examined the NTD risk associated with choline and betaine in 409 Mexican-American women who gave birth during 1995 to 2000 in the 14-county border region of Texas. RESULTS: Using data from the food frequency questionnaire and the lowest quartiles of intake as the reference categories, a protective association was suggested between higher intakes of choline and betaine and NTD risk although the 95% confidence intervals for all risk estimates included 1.0. For choline intake in the second, third, and fourth quartiles, adjusted odds ratios were 1.2, 0.80, and 0.89, respectively. Betaine appeared more protective with odds ratios of 0.62, 0.73, and 0.61, respectively, for the second, third, and fourth quartiles of intake. CONCLUSION: Study findings suggest that dietary betaine may help to prevent NTDs.

Impacto de la fortificación de la harina de trigo con ácido fólico en los defectos del tubo neural, en Lima, Perú / Impact of fortifying wheat flour with folic acid on neural tube defects in Lima, Peru

Introducción: En los últimos años, estudios observacionales en algunos países de América Latina y el mundo demostraron una asociación favorable entre la fortificación de la harina con ácido fólico y la reducción de casos con defectos del tubo neural (DTN). Objetivos: Determinar la tasa de incidencia global (TIG) de DTN y su reducción en el periodo posfortificación (2006-2010) de la harina de trigo con ácido fólico. Diseño: Observacional, descriptivo y retrospectivo. Lugar: Instituto Nacional Materno Perinatal INMP, Lima, Perú. Participantes: Recién nacidos entre los años 2006-2010. Intervenciones: Se revisó 88 236 historias clínicas de recién nacidos. Se obtuvo promedios, desviación estándar, frecuencias absolutas y relativas; la tendencia de las incidencias fue medida con Prais Winsten. Se calculó el IC 95% para la TIG con la prueba de Poissón. Principales medidas de resultados: Tasa de Incidencia global de DTN. Resultados: Hubo 77 historias de RN con DTN, que representaron una TIG de 8,73 por 10 000 (IC 95%: 6,9 a 10,9), siendo la incidencia más alta 15,6 x 10 000 (IC 95%: 10,2 a 22,9) el año 2006 y la más baja 7,6 por 10 000 (IC95%: 4,1 a 13,0) el año 2010. Las incidencias de los tipos DTN fueron: espina bífida 6,7 por 10 000 (IC 95%: 5,1 a 8,6), anencefalia 1,9 por 10 000 (IC 95%: 1,1 a 3,1) y encefalocele 1 por 10 000 (IC 95%: 0,1 a 0,6). Conclusiones: La incidencia de los DTN en el INMP disminuyó a 8,7 por 10 000 RN en el periodo posfortificación (2006-2010) de la harina de trigo con ácido fólico, evidenciando impacto positivo de la intervención.

Introduction: Observational epidemiologic studies conducted during the past years in several countries reported favorable association between wheat flour fortified with folic acid and reduced cases of neural tube defects (NTD). Objectives: To determine the global incidence rate (GIR) of neuronal tube defects (NTD) and their reduction in the post-fortifying phase (2006-2010) of wheat flour with folic acid. Design: Observational, descriptive and retrospective study. Setting: Instituto Nacional Materno Perinatal -INMP, Peru. Participants: Neonates. Interventions: We reviewed 88 236 medical histories of neonates born between 2006 and 2010 and average, standard deviations, absolute and relative frequencies were obtained. NTD trend was measured statistically by Prais Winsten. Poisson test was used to measure 95% CI for GIR of NTD. Main outcome measures: Global incidence rate (GIR) of NTD. Results: A total of 77 medical histories were found to have NTD, representing a GIR of 8.7 per 10 000 (95% CI: 6,9-10,9) neonates. The highest incidence of 15.6 per 10 000 (95% CI: 10.2-22.9) was found in 2006 and the lowest 7.61 per 10 000 (95% IC: 4,1-13,0) in 2010. Incidences by NTD types were: spina bifida 6.7 per 10 000 (95% CI: 5.1-8.6), anencephaly 1.9 per 10 000 (95% CI: 1.1-3.1), and encephalocele 1 per 10 000 (95% CI: 0.1-0.6). Conclusions: NTD incidence at INMP decreased to 8,7 x 10 000 neonates during 2006-2010 after use of wheat flour fortified with folic acid, which provides positive evidence of the intervention impact.

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

Defecto del tubo neural, prolapso genital neonatal y polimorfismo de la metiltetrahidrofolato reductasa: presentación de un caso / NTD, neonatal genital prolapse and methylenetetrahydrofolate reductase polymorphism: case report

Se reporta el caso de una recién nacida femenina de 26 días de edad, con mielomeningocele toracolumbar, hidrocefalia y prolapso genital. En el Instituto de Investigaciones Genéticas de la Facultad de Medicina de la Universidad del Zulia, Maracaibo, se analizaron 6 muestras de ácido desoxirribonucleico, correspondientes a afectada, madre, padre y 3 controles. En esta familia se interrelacionan la anomalía congénita y los factores de riesgo genético y ambiental, lo que permitió adecuado asesoramiento genético.

We report the case of a female newborn 26 days old with thoracolumbar myelomeningocele, hydrocephalus and genital prolapse. In Genetic Research Institute of the Faculty of Medicine, University of Zulia, Maracaibo, 6 samples of oxyribonucleic acid corresponding to affected mother, father and 3 controls were analyzed. In this family are interrelated congenital anomaly and genetic risk factors and environmental, allowing appropriate genetic counseling.

Iniencefalia: primer caso reportado en Colombia y revisión de la literatura / Iniencephaly: first case reported in Colombia and literature review

Introducción: la iniencefalia es un defecto del tubo neural, de baja frecuencia, del cual no hay valores de prevalencia establecidos. Esta patología se caracteriza por un ensanchamiento del foramen magno, raquisquisis y retroflexión marcada de la cabeza. El objetivo de este artículo es reportar un caso con los hallazgos clásicos de iniencefalia, y revisar la literatura. Materiales y métodos: se presenta el caso de un recién nacido de sexo femenino, producto de madre primigestante de 14 años, que consultó a institución de tercer nivel de complejidad, que atiende pacientes en su mayoría de la red pública del suroccidente colombiano, con ecografía prenatal que mostró feto con defecto a nivel de vértebras cervicales y torácicas. Al recién nacido se le realizó autopsia y radiografías, en los que se evidenciaron anomalías clásicas de iniencefalia. Se realiza búsqueda en las base de datos Medline vía PubMed por medio de la palabra clave iniencephaly. Conclusión: la importancia de este reporte radica en sumar a la literatura un nuevo caso de iniencefalia asociado con meningocele e hipoplasia de radio y ulna, adicionalmente es el primero reportado en Colombia...

Introduction: iniencephaly is a rarely occurring defect of the neural tube, lacking established prevalence values to date. It is characterized by widening of the foramen magnum, rachischisis and marked retroflexion of the head. This article was aimed at reporting a case having classical findings of iniencephaly and providing a literature review. Materials and methods: the case of a newly born female is presented; her first-time mother was aged 14 and consulted a third level hospital mainly attending patients from the southwestern Colombian public healthcare network. The prenatal echography showed a fetus having a cervical/ thoracic vertebrae defect. The newborn was subjected to autopsy and radiographies, revealing classical anomalies regarding iniencephaly. A search was made of Medline databases via PubMed using the key word “iniencephaly”. Conclusion: this report’s importance lies in adding a new case of iniencephaly associated with meningocele and hypoplasia of the radius and ulna to the pertinent literature. It is the first case reported in Colombia...

Bullous aplasia cutis congenita: case report and review of the literature.

Aplasia cutis congenita is a rare condition characterized by the absence of skin and sometimes other underlying structures such as bone or dura. It can be a part of various syndromes and can be associated with multiple genetic diseases, malformation patterns, or a combination of all. It is even considered as a form frustre of a neural tube defect in several literatures. Bullous aplasia cutis congenita is a clinical subtype of the condition, with extremely few cases reported in the literature. It presents as a cystic or bullous lesion at birth, which eventually transforms into an atrophic, flat scar covered by a thin epithelium. Some cases present with a dark collar hair sign around the lesion, which can be even more indicative of an underlying neural tube defect. Management remains controversial and depends on the characteristics of the lesion, but conservative treatment is usually chosen.