Limited dorsal myeloschisis (LDM) is a condition in which the separation of the neuroectoderm from the cutaneous ectoderm during primary neural tube formation results in localized disjuncture, causing a continuous cord-like connection and spinal cord tethering. We reported a case of cervical LDM with a wart-like cutaneous appendage that was treated with excision after long-term follow-up. The patient was an 18-year-old girl. A wart-like cutaneous appendage was noted over the nape of the neck since birth. Computed tomography showed spina bifida in the cervical and thoracic spines, and spinal magnetic resonance imaging (MRI) showed a cervical skin lesion and an enlarged dural sac in the dorsal thoracic spinal cord. At 18 years of age, the patient occasionally experienced numbness in her left hand and was referred to our outpatient clinic due to a new high signal intensity in the dorsal cervical spinal cord on a T2-weighted MRI. The MRI showed that a cord-like object was continuous intradural and dorsal to the spinal cord from a cutaneous lesion in the median cervical region, with a high signal in the same region. Symptomatic cervical spinal cord tethering due to a cord-like material was diagnosed, and the patient underwent resection. During surgery, the tract was removed from the cutaneous lesion into the dura mater as a single mass and untethered in the dorsal spinal cord. The histological diagnosis was a pseudo-dermal sinus tract with no luminal structures or neural tissue present, as the cord-like substance was connective tissue containing small blood vessels. Based on the neuroimaging and pathological findings, the patient was diagnosed with cervical LDM. Neurological symptoms improved postoperatively. Herein, we reported a case of cervical LDM that was treated after long-term follow-up. The patient's symptoms improved immediately after surgery. Cervical LDMs are rare, and the timing of surgery for LDM should be considered according to the patient's condition.

Limited dorsal myeloschisis (LDM) is a rare closed neural tube defect characterized by the presence of a fibroneural rod connecting the spinal cord to the skin, and a focal closed skin defect. Distinguishing between open and closed forms of dysraphism is a major challenge, given their variable prognosis. However, the diagnosis of LDM in the antenatal period is difficult and the prognosis of children is little studied, although these data are vital in order to establish suitable prenatal advice and provide couples with the best possible support. We conducted a retrospective multicenter observational study from May 2010 to March 2023 on 5 reference centers attached to a prenatal diagnosis center: the university hospital centers (CHU) of Besançon, Dijon, Nancy, Reims and Strasbourg. A total of 21 cases of LDM suspected on reference ultrasonography were included. The ultrasound criteria used were standardized and corresponded to those described in the literature. In 76% of cases, MRI was performed to complement the obstetrical ultrasound. Amniocentesis was performed in over 50% of cases, and was always normal. Of the 21 cases initially suspected prenatally, there were 17 live births: 9 confirmed cases of LDM (52.9%) and 8 invalidated cases (47.1%), corresponding to another diagnosis. Of the 9 confirmed cases of LDM, 8 were isolated forms, and 1 was associated with a polymalformative syndrome (VACTERL). On reference ultrasonography, there were no significant differences in criteria between confirmed and invalidated LDM, apart from the fibroneural stalk described sonographically in 2 cases, both confirmed postnatally. Concerning the spinal level, there was a difference in involvement, with a predominance of the lumbar level in confirmed cases of LDM, whereas a sacral level was preferred among infirm cases. MRI was carried out in 76% of cases, and confirmed the diagnosis of LDM in 71% of confirmed cases in the postnatal period. Of the 5 requests for medical termination of pregnancy (MTP), 3 were accepted, but 2 were refused by the CPDPN. These two cases corresponded to a confirmed postnatal isolated LDM and a lipomyelomeningocele, both with a favorable prognosis and evolution. Postnatal follow-up averaged 32 months. No notable neurological abnormalities were noted. In terms of bladder and bowel function, urinary tract infections and constipation were common but rare (n=3/6; 50%) and not severe. No significant psychomotor retardation was reported. The 8 cases of invalidated LDM all corresponded to closed dysraphism. No diagnosis was corrected to open dysraphism. In contrast to myelomeningocele, our study confirms that limited dorsal myeloschisis (LDM) tends to have a good prognosis. However, given the risk of postnatal symptoms, particularly sphincter symptoms, management must be early and multidisciplinary. The place of MTP seems questionable. Prenatal counseling must be adapted in the light of these results, after multidisciplinary discussion, in order to communicate clear and appropriate information to future parents.

LDM is a distinct form of spinal dysraphism characterized by two important features: a focal "closed" midline defect and a fibroneural stalk that connects the skin lesion to the underlying cord. When a fluid-filled sac overlies the defect, it is classified as saccular LDM (s-LDM). The embryogenesis is incomplete disjunction between cutaneous and neural ectoderms - allowing persistence of a physical connection between the disjunction site and the dorsal neural tube. We aim to describe the prenatal features and perinatal outcomes of s-LDM. This study is a review of case records from January 2018 to April 2024. A lesion was classified as s-LDM if the following criteria were met: (a) fluid-filled saccular lesion in the midline of the fetal back overlying dysraphic spine; (b) echogenic stalk connecting the saccular lesion to the cord. Presence or absence of posterior fossa abnormalities (Chiari II malformation) was not required for the diagnosis or exclusion. Twenty-three cases of LDM were identified - 5 cervical, 3 lumbosacral, 1 lumbar, and 14 sacral. A fibroneural stalk was identified in all. Perinatal outcome was available in all but one. Ten patients (1 cervical, 3 lumbosacral, 6 sacral) underwent surgery after birth, two awaiting surgery at the time of writing this paper. Ten pregnancies underwent termination, and one was lost to follow-up. Additional prenatal findings included obliteration of cisterna magna in two fetuses, frontal bone scalloping in three, bilateral ventriculomegaly in two, underlying intraspinal lipoma in one, Blake pouch cyst in two, and low-placed conus in twenty fetuses. Head circumference was normal in all cases. s-LDM has unique sonographic features making it feasible for a definitive prenatal diagnosis. This is important since the postnatal surgical outcome is vastly different from myelomeningocele.

Closed spinal dysraphism (CSD) is a congenital condition caused by a failure in secondary neurulation during embryogenesis. CSD is associated with characteristic cutaneous stigmata often identified clinically. Rarely, such stigmata have been reported to occur with complex congenital intraspinal lipomas containing Pacinian corpuscle hyperplasia. Herein, we present our case of an asymptomatic 8-month-old female who presented with a midline lumbosacral acrochordon-like lesion. MRI revealed a midline lipomatous lesion at S2-S3 with a fibrovascular stalk likely continuous with the acrochordon. Given the absence of neurological symptoms concerning tethered cord syndrome (TCS), only the skin lesion was removed for cosmesis. Subsequent histopathological examination revealed numerous Pacinian corpuscles in a background of dermal collagen and subcutaneous adipose tissue. No features suggested a co-existent peripheral nerve sheath lesion (such as a neurofibroma). Given the spinal cord abnormalities, and the histologic features of a pure proliferation of Pacinian corpuscles, a diagnosis of the so-called "Pacinioma" was made. To the best of our knowledge, only four other cases of complex intraspinal lipomatous lesions containing Pacinioma in the setting of CSD with a tethered cord have been previously reported. This case highlights the complexity of the cutaneous stigmata of CSD.

Cervical saccular limited dorsal myeloschisis (LDM), previously so-called "cervical myelomeningocele," is a rare spinal dysraphism. Although the pathogenesis of true myelomeningocele is primary neurulation failure, LDM results from a delayed abnormality during the final stages of neurulation. The aim of the study was to evaluate the outcome of these patients and to assess the correlation of outcomes with the level and type of lesion. Also, pooled data from the literature on similar lesions were systematically reviewed. A retrospective study was conducted at Children's Medical Center (CMC), Tehran, Iran. Information of patients who underwent surgery between 2004 and 2020 (i.e., the recent series) was extracted and combined with data from a previously published series from the same center that were obtained between 2000 and 2003 (CMC series). The literature was reviewed for all published cases, to be combined with the CMC series for further analyses. Twenty-two patients were included in the recent series. Combined with 16 previously published cases, 38 patients with a mean ± SD age at surgery of 11.75 ± 28.64 months were included in the CMC series. The rates of neurological deficit, hydrocephalus, and Chiari malformation type II in the CMC series were 26.32%, 39.47%, and 28.95%, respectively. The lesions were at the upper levels in 17 (44.7%) and lower cervical levels in 21 (55.3%) patients, with 31 cases (81.58%) diagnosed with stalk-type lesions and 7 cases (18.42%) with myelocystocele-type lesions. At final follow-up, 31 patients (81.57%) achieved sphincter continence, and all 36 accessible patients were ambulated, consisting of 28 (73.68%) independent and 8 (21.05%) dependent ambulation patients. The rates of Chiari malformation type II and hydrocephalus were insignificantly higher in patients with upper-level lesions, but those of neurological deficit, ambulation, and sphincter continence were not associated with level. The rates of hydrocephalus (p < 0.01), Chiari type II malformation (p < 0.01), and neurological deficit (p = 0.04) were significantly higher in the myelocystocele group. In the systematic review, 24.77% of patients had neurological deficit. Binary logistic regression showed that older age at surgery (p = 0.03) and associated spinal anomalies (p = 0.04) were significant predictors of deficits. Chiari type II malformation was significantly (p < 0.001) and hydrocephalus was marginally (p = 0.06) more common in patients with myelocystocele-type lesions. The rate of Chiari malformation type II was higher in patients with upper-level lesions (p = 0.02). Patients with cervical saccular LDM had better outcome compared with those patients with true myelomeningocele in more distal areas. According to the current series, most patients obtained ambulation and voiding continence, regardless of the level or type of lesion. Hydrocephalus, Chiari type II malformation, and neurological deficit were more common in patients with myelocystocele-type lesions.