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.

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.

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.

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.

[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.

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.

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.

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.

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.

Spinal cord herniation into pseudomeningocele after traumatic nerve root avulsion: case report and review of the literature.

We present an extremely rare case of traumatic spinal cord herniation due to a brachial plexus avulsion injury and provide a review of the literature of spinal cord herniation. Spinal cord herniation is an uncommon condition that can occur spontaneously or as a result of surgery or trauma. This condition often presents with symptoms and signs as Brown-Séquard syndrome. Traumatic pseudomeningoceles after a brachial plexus avulsion injury have been reported. But transdural herniation of the spinal cord into this pseudomeningocele is an extremely rare and poorly documented condition. There is only two reports of this condition in a thoracic case. The authors report the case of a 22-year-old man presented with a 2-year history of quadriplegia. He was involved in a motorcycle accident, 3 years prior to his presentation. Four years after the initial right brachial plexus injury, he was not able to walk independently. Magnetic resonance imaging (MRI) and computerized tomography (CT) myelography revealed a lateral pseudomeningocele arising from the right C6-7 and C7-T1 intervetebral foramen and cervical spinal cord herniation into this pseudomeningocele. The patient underwent primary closure of pseudomeningocele to prevent spinal cord reherniation. He can walk with cane and use left arm unrestrictedly at the 2-year follow-up examination. Spinal cord herniation following traumatic nerve root avulsion is extremely rare but it should be considered in the differential diagnosis of patients presenting with delayed myelopathy or Brown-Séquard syndrome.

Retropharyngeal pseudomeningocele formation as a traumatic atlanto-occipital dislocation complication: case report and review.

Retropharyngeal pseudomeningocele after atlanto-occipital dislocation is a rare complication, with only five cases described in the literature. It develops when a traumatic dural tear occurs allowing cerebrospinal fluid outflow, and it often appears associated with hydrocephalus. We present a case of a 29-year-old female who suffered a motor vehicle accident causing severe brain trauma and spinal cord injury. At hospital arrival the patient scored three points in the Glasgow Coma Scale. Admission computed tomography of the head and neck demonstrated subarachnoid hemorrhage and atlanto-occipital dislocation. Three weeks later, when impossibility to disconnect her from mechanical ventilation was noticed, a magnetic resonance imaging of the neck showed a large retropharyngeal pseudomeningocele. No radiological evidence of hydrocephalus was documented. Given the poor neurological status of the patient, with spastic quadriplegia and disability to breathe spontaneously due to bulbar-medullar injury, no invasive measure was performed to treat the pseudomeningocele. Retropharyngeal pseudomeningocele after atlanto-occipital dislocation should be managed by means of radiological brain study in order to assess for the presence of hydrocephalus, since these two pathologies often appear associated. If allowed by neurological condition of the patient, shunting procedures such as ventriculo-peritoneal or lumbo-peritoneal shunt placement may be helpful for the treatment of the pseudomeningocele, regardless of craniocervical junction management.

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.

Resection of a giant anterior sacral meningocele via an anterior approach: case report and review of literature.

BACKGROUND: An anterior sacral meningocele is a rare form of spinal dysraphism that is sometimes associated with syndromes such as Currarino and Marfan syndromes. These lesions rarely cause neurological complications, but meningitis, sepsis, obstetric problems, and bowel and bladder difficulties are common secondary conditions. The lesions can even be fatal. Because these lesions usually do not regress spontaneously, surgical treatment is the standard for symptomatic or growing masses. The dural defect can be repaired with a variety of anterior or posterior approaches. CASE DESCRIPTION: We present a case of a 16-year-old female patient with a giant nonsyndromic anterior sacral meningocele that we successfully treated using an open anterior approach. We discuss the treatment options and present a brief review of the literature. CONCLUSIONS: Although the posterior approach remains the treatment of choice for most lesions, we believe that the anterior laparotomy provides excellent exposure and is a safe alternative approach for the treatment of selected lesions. Patients with these lesions should be cared for by a multidisciplinary team.

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.

Efficacy of standard trauma craniectomy for refractory intracranial hypertension with severe traumatic brain injury: a multicenter, prospective, randomized controlled study.

To compare the effect of standard trauma craniectomy (STC) versus limited craniectomy (LC) on the outcome of severe traumatic brain injury (TBI) with refractory intracranial hypertension, we conducted a study at five medical centers of 486 patients with severe TBI (Glasgow Coma Scale score 0.05). The results of the study indicate that STC significantly improves outcome in severe TBI with refractory intracranial hypertension resulting from unilateral frontotemporoparietal contusion with or without intracerebral or subdural hematoma. This suggests that STC, rather than LC, be recommended for such patients.

Adult intranasal meningoencephalocele presenting as a nasal polyp.

We present an isolated purely intranasal meningoencephalocele, presenting as a nasal polyp in an adult, which is uncommon. Based on a review of the literature, we emphasize that nasal obstruction may be the only presenting symptom of an intranasal meningoencephalocele.

Outlook for the child with a cephalocele.

Specific information on the outcome for a child with a cephalocele can be difficult to find and interpret. To update outcome information for the child with a cephalocele, the investigators compared outcome of 34 infants from their institution with that of those in previously published series. For the infants from the investigators' institution, overall mortality was 29% and was confined to infants with posterior defects, which was consistent with other published series. Additional major congenital abnormalities were present in nearly half the infants, and these were an important factor in contributing to a poorer prognosis as well as whether the defect could be operatively reduced. Seizures and hydrocephalus were often secondary problems in those infants who did worse. In addressing outlook for the infant with the cephalocele, primary factors to be considered are operability and the presence of additional major abnormalities, both intracranial and extracranial.