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Posterior lipomyelocele. (A) Image showing a skin-covered swelling in the lumbar region. (B) T2 axial and (C) T1 sagittal images and illustration (D) showing an intraspinal lipoma herniating into the subcutaneous fat through a posterior spina bifida.
Source publication
Background Spinal dysraphisms refer to the congenital abnormalities of the spine and spinal cord due to aberrations in the processes of gastrulation, primary neurulation, and secondary neurulation. Embryology of many complex spinal dysraphisms are yet poorly understood and there is no agreeable anatomical–clinicoradiological classification with inc...
Citations
... Histologically, dermoid cysts consist of keratinous debris and hair follicles and are coated with a dermis, which contains skin appendages such as hair and sebaceous glands. 1 While commonly affecting the head and scalp in the pediatric population, intraspinal dermoid is extremely rare, accounting for around 1.1% of intraspinal tumors. 2 Diastematomyelia is a congenital anomaly of the spine due to defective formation of the primitive notochord, giving rise to two notochordal processes. 3 Here, we report a case of an intradural extramedullary dermoid cyst in a child with lipomyelomeningocele and the presence of a diastematomyelia with tethering of the cord, emphasizing the pathologic investigations and surgical treatment. ...
... around 14.2% of the total cases, whereas posterior lipomyelomeningocele was found in 3.33% of cases, only 1.3% of spinal dysraphism was due to dermoid and Lumbar diastematomyelia was found in 6% of the cases. 3 To the best of our knowledge, there has not been a simultaneous concurrence of lumbar diastematomyelia, lipomyelomeningocele, and an intradural dermoid to date. ...
... Diastematomyelia arises due to a defect in midline integration of the primitive notochord, such that there are two notochordal processes, each inducing the formation of separate neural plates. 3 Although diastematomyelia is commonly found to be associated with vertebral abnormalities, our patient had no such findings except for a swelling in the back along with a hairy tuft. ...
Key Clinical Message
Diastematomyelia, tethered cord, intradural extramedullary dermoid tumor and lipomyelomeningocele such disease entities themselves are rare in their own form and concurrent presentation of all those pathological states in a single individual can be considered one of the rarest forms of spinal dysraphism globally. Moreover for prompt management with optimal prognosis needs refined neurosurgical intervention guided by intraoperative neuromonitoring so as to bring about the best quality of life in the patient.
... Spinal dysraphism (SD) is a collective term for congenital malformations of the spine and spinal cord. 1 It includes a wide range of congenital anomalies resulting from aberrations in the stages of gastrulation, primary neurulation and secondary neurulation. 2 Spinal dysraphisms have a prevalence of ~1 to 3 per 1000 live births with the lumbosacral spine being the most common site. 1 Spinal dysraphisms may lead to neurological impairment of varying severity including weakness of the extremities, incontinence of bowel and bladder, and sexual dysfunction, among others. 1 The diagnosis of SDs is quite challenging because of its wide spectrum and complex cascade of embryologic events. ...
... It was an extremely rare case of complex spinal dysraphism with hemimyelomeningocoele and hemilipomyelomeningocoele in the same patient. 1,2,3,4,5 To the best of our knowledge, no such case has been published in the literature to date. The patient was referred to a higher centre for further management. ...
Spinal dysraphism (SD) is a collective term for congenital malformations of the spine and spinal cord. It includes a wide range of congenital anomalies resulting from aberrations in the stages of gastrulation, primary neurulation and secondary neurulation. Spinal dysraphism may lead to neurological impairment of varying severity including weakness of the extremities, incontinence of bowel and bladder, sexual dysfunction, among others. Diagnosis of SDs is quite challenging because of its wide spectrum and complex cascade of embryologic events. Knowledge of normal embryology and proper understanding of imaging features of SD are important for early accurate diagnosis.
Contribution
This series of five cases describes the imaging spectrum of spinal dysraphism and highlights the embryological basis for their development, which could facilitate early correct diagnosis, surgical planning and reduced morbidity related to these malformations. It also includes an extremely rare case of complex spinal dysraphism (Type II diastematomyelia with right hemimyelomeningocoele and left hemilipomyelomeningocoele) with Chiari II malformation.
... (24) No obstante, existen otras posibles causas de obstrucción de LCE en este grupo de pacientes: la traslación vertical del tronco encefálico puede causar un aumento de la resistencia al LCR dentro del acueducto de Silvio. (25) Otros estudios sugieren que anomalías funcionales podrían contribuir a la génesis de una hidrocefalia de tipo comunicante, por ejemplo, la presencia anormal y distribución de glicosoaminoglicanos en las regiones ventriculares subependimales. (26,27) Es probable que la sumatoria de factores obstructivos y arreabsortivos, sean los responsables de la gran variabilidad clínica en los sujetos mielodisplásicos con hidrocefalia, explicando de esta forma también, la diferente respuesta al tratamiento. ...
Hydrocephalus occurs in 20% of patients with myelomeningocele at birth, reaching up to 85% after surgical repair. With the use of the endoscopic third ventriculostomy, the longterm morbidity and mortality inherent to the ventriculoperitoneal shunt can be avoided, making it an attractive alternative. A systematic review was carried out to evaluate the role of secondary endoscopic third ventriculostomy in myelodysplastic patients with hydrocephalus due to shunt malfunction. Thirteen articles were chosen, which included a total of 197 patients. The success rate presented a wide range (50-100%, average 69.9%). In conclusion, despite the limited evidence, secondary endoscopic third ventriculostomy can be considered an attractive alternative for the management of carefully selected myelodysplastic patients with hydrocephalus due to shunt malfunction. Studies with
greater statistical strength are needed to issue clear recommendations.
... Lipomyelomeningoceles are characterized by a subcutaneous fatty mass above the intergluteal crease that usually extends asymmetrically into one buttock. Because of the enlargement of the underlying subarachnoid spaces, the neural placode-lipoma interface is located outside the spinal canal, resulting in a posterior meningocele [ 6 ]. MRI scan revealed similar findings in our case. ...
Closed spinal dysraphism can present with diagnostic issues in settings with limited resources, when knowledge of the disorder and specialized radiological studies, such as magnetic resonance imaging (MRI), may not be readily available. Undiagnosed cases can develop serious neurological deficits. Here, we describe a case of dorsolumbar lipomyelomeningocele, a type of closed spinal dysraphism, presenting in a middle aged with paraplegia complicated by bed sores. A 38-year-old female with no significant past medical history experienced gradually progressive weakness of bilateral lower limbs over 9 years. On physical examination, patient had a soft swelling with hairy tuft over the lumbar spine, paraplegia, grade III bed sore over the gluteal region, and sensory loss below L1 sensory level. Her bowel and bladder sensation were decreased. The soft tissue swelling over her back was not evaluated appropriately before this presentation. MRI of the spine revealed dorsolumbar lipomyelomeningocele with tethered spinal cord.
... Lipomyelomeningoceles are characterized by a subcutaneous fatty mass above the intergluteal crease that usually extends asymmetrically into one buttock. Because of the enlargement of the underlying subarachnoid spaces, the neural placode-lipoma interface is located outside the spinal canal, resulting in a posterior meningocele [ 6 ]. MRI scan revealed similar findings in our case. ...
X-linked adrenoleukodystrophy is a rare inherited peroxisomal disorder that occurs due to a genetic mutation. This mutation impairs normal transport of very long-chain fatty acids (VLCFAs) into peroxisomes, hence impeding VLCFA breakdown leading to its accumulation in plasma and tissues of the body. Due to its X-linked inheritance, it classically affects young males with most cases diagnosed during childhood. There are characteristic MRI findings in brain which can aid in diagnosis of X-ALD. We hereby present a case of a 10-year-old boy who presented with neurological and behavioral deterioration with MRI findings suggestive of X-ALD. MRI not only aids in diagnosis of X-ALD but can also identify the pattern of brain involvement which serves an important role in prognosis and outcome of the disease.
Neurulation is a prenatal process by which the neural tube forms between the third and fourth weeks of gestation. Any disruption in this process leads to a neural tube defect, spina bifida being the most common neural tube defect. It is a rare congenital disease that affects the spine and brain development. There are four types of spina bifida, myelomenigocele being the most common and most severe. Spina bifida occulta is the second most common and mildest form. Spina bifida is a multifactorial disease, but folic acid deficiency is the clearest risk factor supported by many studies. Mothers with previous spina bifida children are in risk for recurrent occurrence. Spina bifida patients present with many symptoms depending on the extent of the lesions. Many cases present with the skin of the back abnormality like sac filled with meningeal cells or CSF. There are neurological, developmental, urological, cognitive, and orthopedic symptoms. Hydrocephalus is associated with most cases. This leads to developmental delays and disabilities. Many cases are diagnosed prenatally by measuring alpha-fetoprotein levels in the second trimester and regular fetal ultrasonography. The closed types not discovered prenatally. After birth, we can do more radiological tests to confirm the diagnosis and assess its severity. We can also look for other congenital abnormalities, particularly urinary abnormalities. Many studies show that taking folic acid in the first trimester reduces the risk of developing spina bifida. Surgical intervention is the first treatment option within 48 h of delivery. In cases of hydrocephalus, surgery and shunt placement is life-saving.
Segmental spinal dysgenesis is considered one of the rare types of congenital spinal malformations where there is agenesis or dysgenesis of the spinal cord. It more commonly affects the lumbar or thoracolumbar regions of the spine although it can affect any portion of the spine. It was believed that the defect in embryological development that leads to SSD was in primary neurulation, but data suggest now that these malformations occur in the stage of gastrulation. Patients with closed spinal dysraphism require extensive clinical assessment to suspect the presence of such conditions as they can often be entirely occult. For early detection of spinal congenital anomalies, prenatal screening provides a good opportunity for diagnosing and arranging the needed management plan by Spinal MRI or Ultrasound. Not only is MRI indicated for further characterizing the spine anomaly that is detected by US, but to also recognize any associated extracranial and cranial abnormalities that the ultrasound has not adequately evaluated and to confirm the diagnosis as a golden standard imaging modality prenatally and postnatally. Variety of clinical pictures could present. The variations are dependent on the degree of severity in addition to the level of defect and whether or not accompanied anomalies are present. The typical sign being a bony protuberance of kyphotic gibbus corresponding to the level of segmental abnormality. The degree of these neurological disorders depends on both the severity of spinal cord stenosis and how well the remaining segment of the spinal cord functions. The management plan also varies depending on many factors and an early surgical intervention is considered as one of the options that aim to establish and maintain the stability of the spine first and then relieving of cord compression which is recommended to maintain the balance of spinal growth and to avoid the development of rigid deformities and secondary structural curvatures.
INTRODUCTION: Central nervous system malformationsare frequently encountered anomalies owing to derangements in the neurulation process of spinal in the embryonic period. These are broadly categorized into 1) open spinal dysraphism and 2) closed spinal dysraphism, based on skin/sub cutaneous tissues coverage. Masquerading diseases may present with similar clinical presentation. Neuro-imaging plays an essential role in differentiating between neural tube defects and mimicking disease hence facilitate appropriate diagnosis and pre-surgical planning. OBJECTIVE: To assess the frequency of congenital central nervous system (CNS) malformations and masquerading diseases in the pediatric patients presenting with congenital posterior midline lumps at the head, neck and back using MRI brain and spine in the Radiology department of the national institute of child health (NICH). METHODS: Design: This is a descriptive, retrospective cross-sectional analysis. Setting: Radiology department of national institute of child health (NICH). Electronic data from November 2021 to October 2022 of MRI brain and spine of pediatric patients below 15 years presented with congenital posterior midline lumps were collected and analyzed on SPSS version 26. RESULTS: Total 201 pediatric patients were evaluated. There was a balanced gender distribution between male 91(45%) and female 110(54.7%). The most common presenting complaint was congenital lumbar posterior midline lump. Myelomeningocele was the most common diagnosis (61.2%) followed by lipomyelocele and lipomyelomeningocoele (4%). Notably, the most common association was found to be hydrocephalus (38.8%), syrinx (23.9%) and tethered cord (20.9%). Most prevalent masquerading disease was sacrococcygeal teratoma then macrocystic lymphatic malformation. Soft tissue hemangioma, hematoma and neurogenic tumor were also found in few patients. CONCLUSION: This study emphasizes the significance of neuroimaging detection of not only spinal dysraphism but other masquerading diseases as well. Early recognition of key imaging features of such malformations and mimicking diseases facilitates appropriate intervention hence plays acrucial role for therapeutic strategy and clinical outcome.
