Pregnancy in a woman with sacral agenesis from prenatal counseling to delivery: A case report.

Sacral agenesis or CRS (caudal regression syndrome) is a rare congenital condition involving approximately 1 in 25 000 live births (Sharma et al., 2015) and leading to the absence of lower sacral vertebral bodies and severe malformations of the pelvis. This condition is associated with an extreme reduction of the xipho-pubic distance and of the pelvic dimensions. It is reasonable to think that this might lead to an increased difficulty in obtaining a spontaneous pregnancy and to a consistently increased risk of maternal and perinatal complications. In literature, very little is known about pregnancy in patients with sacral agenesis and therefore on the appropriate way to counsel a patient with this condition who is trying to get pregnant (Greenwell et al., 2013). Although a case of pregnancy in a woman with sacral agenesis is mentioned in a book (J. Rogers, 2006) no cases of women with CRS carrying a pregnancy until a viable age for the fetus are reported in medical literature: as far as we know this is the first case reported in literature of a woman with this condition followed before and throughout the pregnancy with reported pre- and perinatal management, leading to a near-term pregnancy. This case could be useful for clinicians who are requested to counsel female patients with the same condition on the possibility of a pregnancy and possible outcomes.

Expansion of the phenotype of lateral meningocele syndrome.

Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding difficulties. Here, we report a girl with neurosensorial hearing loss, severe gastroesophageal reflux disease, congenital heart defects, multiple renal cysts, kyphosis and left-convex scoliosis, dysmorphic features, and mild developmental delay. Exome sequencing detected the previously unreported de novo loss-of-function variant in exon 33 of NOTCH3 p.(Lys2137fs). Following the identification of the gene defect, MRI of the brain and spine revealed temporal encephaloceles, inner ears anomalies, multiple spinal lateral meningoceles, and intra- and extra-dural arachnoid spinal cysts. This case illustrates the power of reverse phenotyping to establish clinical diagnosis and expands the spectrum of clinical manifestations related to LMS to include inner ear abnormalities and multi-cystic kidney disease.

Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National Birth Defects Prevention Study, 1997-2011.

Sacral agenesis is a rare birth defect characterized by partial or complete absence of the sacrum. We sought to (a) describe case characteristics, (b) estimate birth prevalence, and (c) identify risk factors for nonsyndromic sacral agenesis using data from the National Birth Defects Prevention Study (NBDPS). The NBDPS was a population-based, case-control study involving pregnancies with estimated dates of delivery from October 1997 through December 2011. We estimated birth prevalence using all NBDPS eligible cases. Using self-reported maternal exposure information, we conducted multivariable logistic regression analysis to identify potential risk factors overall and among women without diabetes. The birth prevalence of sacral agenesis was 2.6/100,000 live births. In the multivariable analysis, multifetal pregnancy, pre-existing Type 1 diabetes, and pre-existing Type 2 diabetes were positively and significantly associated with sacral agenesis, albeit estimates were imprecise. Preexisting Type 1 diabetes was the strongest risk factor (adjusted odds ratio = 96.6, 95% confidence interval = 43.5-214.7). Among women without diabetes, periconceptional smoking was positively and significantly associated with sacral agenesis. Our findings underscore the importance of smoking cessation programs among women planning pregnancy and the importance of better understanding the role of glycemic control before and during pregnancy when designing interventions for primary prevention of sacral agenesis.

Lipomeningocele associated with diplomyelia in a dog.

A 2-year-old male neutered mixed breed dog with a body weight of 30 kg was presented for evaluation of a soft subcutaneous mass on the dorsal midline at the level of the caudal thoracic spine. A further clinical sign was intermittent pain on palpation of the area of the subcutaneous mass. The owner also described a prolonged phase of urination with repeated interruption and re-initiation of voiding. The findings of the neurological examination were consistent with a lesion localization between the 3rd thoracic and 3rd lumbar spinal cord segments. Magnetic resonance imaging revealed a spina bifida with a lipomeningocele and diplomyelia (split cord malformation type I) at the level of thoracic vertebra 11 and 12 and secondary syringomyelia above the aforementioned defects in the caudal thoracic spinal cord. Surgical resection of the lipomeningocele via a hemilaminectomy was performed. After initial deterioration of the neurological status postsurgery with paraplegia and absent deep pain sensation the dog improved within 2 weeks to non-ambulatory paraparesis with voluntary urination. Six weeks postoperatively the dog was ambulatory, according to the owner. Two years after surgery the owner recorded that the dog showed a normal gait, a normal urination and no pain. Histopathological diagnosis of the biopsied material revealed a lipomeningocele which confirmed the radiological diagnosis.

A Case of Evolving Bilateral Sphenoidal Meningoencephaloceles: Case Report and Review of the Literature.

BACKGROUND: The evolution of sphenoid sinus meningoencephaloceles and cerebrospinal fluid (CSF) rhinorrhea is poorly understood. CASE DESCRIPTION: We present a case demonstrating the gradual evolution of encephaloceles from both the lateral walls of a previously normal sphenoid sinus in a patient with dural arteriovenous fistula; the CSF leak that developed after staged embolization of the dural arteriovenous fistula was managed by an endoscopic endonasal transpterygoid approach. CONCLUSIONS: We suggest that over a period of time, chronic elevation of intracranial pressure can result in gradual erosion of the lateral wall of the sphenoid with development of meningoencephaloceles and CSF leaks.

Sacral agenesis and neurogenic bladder: Long-term outcomes of bladder and kidney function.

BACKGROUND: Sacral agenesis (SA) is a rare congenital condition that refers to the absence of part or all of two or more lower sacral vertebral bodies. It can be associated with neurogenic bladder dysfunction that does not necessarily correlate with the level of spinal or skeletal defect. Patients with SA should undergo urodynamic studies (UDS) to guide lower urinary tract (LUT) management. OBJECTIVE: This review aimed to update the present institutional experience since 1981 of this rare patient population with detailed, long-term follow-up of bladder and kidney function. STUDY DESIGN: A single institution, retrospective, IRB-approved review was performed on patients born after January 1, 1981 with an isolated diagnosis of sacral agenesis without spina bifida, and followed with urologic involvement at Boston Children's Hospital. Records were reviewed for demographics, radiologic imaging, UDS including cystometrogram (CMG) and electromyography (EMG), surgery, and blood chemistries. Comparisons were made between groups of patients based on age at diagnosis, with specific focus on renal function and stability of neurogenic bladder lesion. RESULTS: Forty-three patients were identified: 23 female and 20 male. Thirty-seven children (86%) had a known age of diagnosis. Nineteen were diagnosed before 2 months old, including five who were diagnosed prenatally, 11 were diagnosed between 2 and 18 months, and seven were diagnosed after 18 months. All 43 had UDS, with 24 (55.8%) studied at the time of diagnosis (Summary Table). Twenty had serial full UDS, with 30% demonstrating neurourologic instability. None developed end-stage renal disease (ESRD) or required spinal cord detethering. DISCUSSION: Many children with SA appeared to be diagnosed prenatally or early in life; SA was mostly identified during evaluation of associated anomalies. Though UDS aid in urologic management, testing was not routinely utilized at the time of diagnosis. CONCLUSIONS: This review of long-term follow-up in SA patients showed stable LUT and renal function, with minimal risk of progression to ESRD.

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 sequence: clinical-radiological case]. / Secuencia de regresión caudal: caso clínico-radiológico.

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.

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined molecular basis. JHS/EDS-HT also presents with other connective tissue features affecting a variety of structures and organs, such as skin, eye, bone, and internal organs. However, most of these signs are present in variable combinations and severity in many other heritable connective tissue disorders. Accordingly, JHS/EDS-HT is an "exclusion" diagnosis which needs the absence of any consistent feature indicative of other partially overlapping connective tissue disorders. While both Villefranche and Brighton criteria include such an exclusion as a mandatory item, a systematic approach for reaching a stringent clinical diagnosis of JHS/EDS-HT is still lacking. The absence of a consensus on the diagnostic approach to JHS/EDS-HT concerning its clinical boundaries with similar conditions contribute to limit our actual understanding of the pathologic and molecular bases of this disorder. In this review, we revise the differential diagnosis of JHS/EDS-HT with those heritable connective tissue disorders which show a significant overlap with the former and mostly include EDS classic, vascular and kyphoscoliotic types, osteogenesis imperfecta, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, and lateral meningocele syndrome. A diagnostic flow chart is also offered with the attempt to support the less experienced clinician in stringently recognizing JHS/EDS-HT and stimulate the debate in the scientific community for both management and research purposes.

Tratamiento mediante punción guiada por TC de un meningocele intrasacro oculto doloroso: caso clínico y revisión de la literatura / Treatment by CT-guided aspiration in a painful hidden intrasacral meningocele: case report and review of literature

Casos clínicos: Presentamos una paciente de 43 años con historia clínica de dolor sacro incapacitante 8/10 en la escala de EVA de 8 meses de evolución. No se apreciaban alteraciones sensitivas ni pérdida del control de esfínteres. Realizó consulta en múltiples hospitales. Se le practicaron una tomografía computadorizada (TC) lumbar que puso de relieve un hemangioma en L5, una resonancia magnética (RM) de pelvis en la que se evidenció rotura muscular grado I del glúteo mayor izquierdo y una lesión quística en el sacro que se interpretó como quiste de Tarlov. Recibió tratamiento analgésico y antiinflamatorio sin mejoría. Se le realizaron dos bloqueos facetarios e incluso un bloqueo del músculo piriforme izquierdo, todo ello sin resultados. En nuestro centro se practicó una RM lumbo-sacra que puso de relieve la lesión quística de localización central y lateral derecha en canal espinal sacro a la altura de la transición S2-S3. Era de alta señal en T2 y de baja señal en T1. Según la clasificación de Nabors correspondía a un meningocele intrasacro oculto. Discusión: El meningocele intrasacro oculto (quiste meníngeo extradural tipo lB de la clasificación de Nabors) es una entidad poco frecuente que se presenta generalmente entre la tercera y cuarta década de la vida, como un cuadro clínico insidioso de dolor en extremidades inferiores, con o sin síntomas radiculares, disfunción de esfínteres y alteraciones sensitivas. El tratamiento habitual de este tipo de lesiones es la intervención quirúrgica. En nuestro caso se realizó punción y evacuación del quiste sacro guiado por TC obteniéndose unos 2 cc de un líquido sero-hemático. La evolución posterior fue de mejoría notable del dolor sacro que paso a ser de 3/10 en la escala de EVA. En la revisión de la literatura que hemos efectuado este es el primer caso en que se trata un meningocele intrasacro oculto doloroso mediante punción evacuadora guiada por TC (AU)

Case reports: We report a 43-year old patient with a history of disabling pain sacrum 8/10 on the VAS of 8 months. No sensory disturbances were noted or loss of bowel control. Consultation conducted in multiple hospitals. She underwent a computed tomography (CT) lumbar that highlighted a hemangioma in L5, a magnetic resonance imaging (MRI) of the pelvis which showed muscle breakdown grade I of the left maximus gluteus, and a cystic lesion in the sacrum, which was interpreted as a Tarlov cyst. She received analgesic and anti-inflammatory treatment with no improvement. She also goes through two facet blocks and even a lock in the left piriformis, all without results. In our center we practised a lumbosacral MRI which highlighted a cystic lesion localized in central and right lateral sacral spinal canal at the level of S2-S3 transition. It was high signal on T2 and low signal on T1. Discussion: According to Nabors classification, this lesion corresponds to a hidden intrasacro meningocele. The hidden intrasacro meningocele (extradural meningeal cyst type classification LB Nabors) is a rare entity that usually develops between the third and fourth decade of life, as an insidious clinical lower extremity pain, with or without radicular symptoms, bowel dysfunction and sensory disturbances. The usual treatment of these lesions is surgical intervention. In our case puncture and evacuation guided by CT of the sacral cyst was performed, yielding about 2 cc of a sero-hematic fluid. The postoperative course was a remarkable improvement, and the sacral pain happened to be 3/10 on the VAS. In the literature that we have reviewed, this is the first case in which a hidden painful intrasacro meningocele is evacuated by CT-guided puncture (AU)

Giant intrasacral meningocele: a case report.

A peculiar case of intrasacral meningocele and spinal cord tethering is reported. Contents of the intrasacral meningocele and importance of CSF flow analyses with MRI are discussed. Demonstration of CSF flow from the thecal sac to meningocele in the CSF flow MR imaging may be helpful for determining the possibility of meningocele growth. In this report, we have presented the determination of CSF flow as a new surgical indication in this type of cases.

Characteristics and management of occult intrasacral extradural cyst in children.

Occult intrasacral extradural cyst is a rare entity. Since little about this lesion has been reported in the literature, this study herein demonstrates by cases some of the clinical features and surgical treatment of occult intrasacral extradural cyst in children. A series of 4 children, 2 boys and 2 girls aged from 4 years and 6 months to 11 years, with occult intrasacral extradural cyst were reviewed. All patients underwent neurological examinations and magnetic resonance imaging. Of these 4 patients two had urinary incontinence in daytime, one frequent micturition, and one numb in saddle area. There were no abnormal findings on physical or laboratory examination. Whole excision of the cyst and ligation of the tract between the cyst and thecal sac were performed for all the patients. No complications such as cerebrospinal fluid leakage and infection were found after operation. All cases made complete recovery and have been asymptomatic at follow-up. The clinical and radiological features of occult intrasacral extradural cyst are characteristic in children. Magnetic resonance imaging is the choice of investigation and surgery is curative.

Endoscopic repair of cerebrospinal fluid rhinorrhoea in a developing country.

The objectives of the study was to determine the causes and outcome of endoscopic repair of cerebrospinal fluid (CSF) leak in a developing country. A total of five patients were recruited in the study. The age of patients ranged from 8 to 65 years. Four patients were male and one was female. In two cases of iatrogenic injury, the first was in the sphenoid sinus. The second was following functional endoscopic sinus surgery (FESS). Fascia lata was used to repair all cases. Beriplast was used as sealing agent in four cases and clotted blood was used in remaining case. Despite the small number, CSF rhinor rhoea was resolved in all cases. The patients were followed up for 2.5 to 6.5 years. Endoscopic repair is a viable option even in developing countries. It is cost effective and has a very low morbidity rate with no mortality at all.

Encephalocystocele - uncommon diagnosis in prenatal medicine.

Encephalocystocele is a developmental malformation characterized by brain herniation accompanied with extracranial cystic protrusion of the ventricular system. This nosological unit is often overlooked and insufficiently classified merely as encephalocele. Herein, two exceptionally clear cases of the parieto-occipital cranioschisis with encephalocystocele and congenital hydrocephalus of the lateral ventricles are documented with 2-dimensional/3-dimensional sonographic images and the corresponding MRI findings. In both cases, prenatal diagnosis was confirmed by autopsy.

Spontaneous CSF Leaks.

Spontaneous cerebrospinal fluid rhinorrhea represents a distinct clinic entity that is likely a variant of idiopathic intracranial hypertension (IIH). Patients with spontaneous cerebrospinal fluid (CSF) leaks are generally middle-aged obese women with radiographic evidence of skull base defects, associated meningoencephaloceles, and empty sella syndrome, a common sign of increased intracranial pressure. Significant overlap exists in the characteristics of patients with spontaneous CSF leak and IIH. Endoscopic repair of the CSF fistula is the gold standard treatment for this condition, but emerging evidence supports the reduction of CSF pressure as an important adjuvant treatment in this patient population.

Management of giant pseudomeningoceles after spinal surgery.

BACKGROUND: Pseudomeningoceles are a rare complication after spinal surgery, and studies on these complex formations are few. METHODS: Between October 2000 and March 2008, 11 patients who developed symptomatic pseudomeningoceles after spinal surgery were recruited. In this retrospective study, we reported our experiences in the management of these complex, symptomatic pseudomeningoceles after spinal surgery. A giant pseudomeningocele was defined as a pseudomeningocele >8 cm in length. We also evaluated the risk factors for the formation of giant pseudomeningoceles. RESULTS: All patients were treated successfully with a combined treatment protocol of open revision surgery for extirpation of the pseudomeningoceles, repair of dural tears, and implantation of a subarachnoid catheter for drainage. Surgery-related complications were not observed. Recurrence of pseudomeningocele was not observed for any patient at a mean follow-up of 16.5 months. This result was confirmed by magnetic resonance imaging. CONCLUSIONS: We conclude that a combined treatment protocol involving open revision surgery for extirpation of pseudomeningoceles, repair of dural tears, and implantation of a subarachnoid catheter for drainage is safe and effective to treat giant pseudomeningoceles.

Traumatic spinal-cord herniation associated with pseudomeningocele after lower-thoracic nerve-root avulsion.

BACKGROUND: Traumatic spinal-cord herniation after nerve root avulsion is rare. We report on the first patient with spinal-cord herniation associated with pseudomeningocele in the lower conus medullaris region after nerve avulsion. CASE: This 72-year-old man presented with progressive pain in the left leg and motor weakness after two traumatic accidents. Constructive interference in steady-state (CISS) imaging showed the attachment of the spinal cord to the wall of a herniated pseudomeningocele and associated syringomyelia at the level of T12. At the time of surgery, a herniated pseudomeningocele was observed. The lateral portion of the spinal cord that had herniated into the pseudomeningocele was detached from its wall; this was followed by repair of the dural defect. A redundant nerve root was observed inside the pseudomeningocele, suggesting nerve root avulsion as the primary lesion. To facilitate cerebrospinal fluid drainage from the syringomyelia, we next performed dorsal root entry zone (DREZ)tomy to the pseudomeningocele. Postoperatively, he manifested significant clinical improvement. CONCLUSIONS: This is the first report of spinal cord herniation after nerve root avulsion in the conus medullaris region. CISS imaging is highly useful for the demonstration of spinal cord herniation, syringomyelia and pseudomeningocele. To restore neurological function in patients with progressive symptoms, we recommend surgical treatment.