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Jarcho-Levin syndrome (JLS) is a congenital dysostosis characterized by multiple vertebral and intrinsic rib abnormalities. JLS and neural tube abnormalities rarely occur together. There have been few cases of JLS associated with a split spinal cord malformation (diastematomyelia). A dorsal dermal sinus is a tract from the skin that may end in soft tissue, epidural space, or most commonly intradural. We report the case of a 5-day-old male neonate with JLS who presented with respiratory distress immediately after birth. A chest radiograph revealed multiple bilateral asymmetric rib deformities and irregular rib fusions, multi-level segmentation defects of the thoracic vertebrae, and associated dextroconvex scoliosis of the thoracic spine. He was subsequently diagnosed with diastematomyelia, a dorsal dermal sinus, and tethered cord on ultrasound. The infant succumbed to respiratory distress from superimposed pneumonia. JLS is rarely associated with distematomyelia, and there are only ten reports worldwide. We presented the eleventh case of JLS with type 2 diastematomyelia. In addition, this is the first reported case of co-occurrence with a dorsal dermal sinus.

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.

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. [ABSTRACT FROM AUTHOR]

We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed.

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Spinal dysraphism refers to a group of congenital malformations affecting the spine and the spinal cord. Although there are several varieties, all have one thing in common, i.e., faulty closure of midline structures at embryogenesis. Rarely, these anomalies are associated with spinal inclusion cysts. Lipomyelocele (LMC) is a type of spinal dysraphism wherein the neural elements along with fat herniate through a posterior defect in the spine. A vast majority of these anomalies are seen in the lumbosacral region, and their occurrence in the cervical region is extremely rare. A 45-year-old female patient presented with swelling over the nape of her neck since birth, with recent-onset paresthesia and unsteady gait. On local examination, a soft fluctuant swelling with blackish discoloration of skin was noted at the nape of the neck. Radiographs revealed congenital C4–C5 block vertebra with defect in posterior elements from C4 to C6. Magnetic resonance imaging revealed a cervical LMC with extramedullary intradural congenital inclusion cyst. Other notable findings were dorsal dermal sinus in cervical region, low lying tethered cord, and aberrant right subclavian artery. In our literature review, we could find only 1 case report of a cervical LMC and no cases reported of cervical LMC with congenital inclusion cyst. Herein, we report a case of a cervical LMC with a spinal inclusion cyst. [ABSTRACT FROM AUTHOR]

Dorsal dermal sinus (DDS) is an uncommon type of occult spinal dysraphism most often located in the lumbar region. Patients present either due to secondary infection or compression of neural structures by an associated dermoid or epidermoid cyst. We report a rare case of 2-year-old child who presented with progressive paraparesis with magnetic resonance imaging of spine showing a thoracic DDS with an infected intramedullary dermoid cyst. Partial excision of the dermoid cyst and resection of the sinus opening was done with partial clinical improvement postsurgery. [ABSTRACT FROM AUTHOR]

We report the MRI dorsolumbar spine of 10-year child who was referred to the Civil Hospital in June 2016 with symptoms of backache for last one month and birth history of congenital discharging sinus. Magnetic Resonance Imaging of his spine revealed type A diastematomyelia, multilevel vertebral segmentation anomalies, anterior and posterior spina bifida and tethered cord,along with dorsal dermal sinus and lipomyelocele. Magnetic Resonance Imaging (MRI) is the investigation of choice for diagnosing occult spinal dysraphisms.1 We present the rare case of triple occult spinal dysraphic anomaly of different embryological origin in a single patient. [ABSTRACT FROM AUTHOR]

Caudal Duplication Syndrome (CDS) is a rare congenital anomaly and has an the association between malformations and duplications of the gastrointestinal and genitourinary systems and neural tube defects. We report a rare case of caudal duplication syndrome, a disorder associating partial or complete duplication of the spine or spinal cord and of other caudal structures, such as urogenital tract and variable degrees of neurological dysfunction. Also associated with caudal regression in the form of sacro-coccygeal agenesis. [ABSTRACT FROM AUTHOR]

Dorsal dermal sinus, a congenital abnormality associated with spinal dysraphism, can serve as a path for spread of infection inside the spinal thecal sac with its sequelae. Intramedullary abscess formation is an uncommon complication and only about 20 cases have been reported in the English literature. We report MR appearances of three new cases. [ABSTRACT FROM AUTHOR]