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1.  Terminal myelocystocele--a case report. 
Journal of Korean Medical Science  1996;11(2):197-202.
Terminal myelocystocele is a rare form of occult spinal dysraphism in which the hydromyelic caudal spinal cord and the subarachnoid space are hemiated through a posterior spina bifida. A 1.5 month old boy presented with a large lumbosacral mass and urinary incontinence. The magnetic resonance imaging, operative findings and pathological findings revealed a low lying conus with a dilated central canal dorsally attached to the subcutaneous tissue. Ventral subarachnoid space was enlarged and herniated through the laminar defect of the sacrum. The lesion was typical of a terminal myelocystocele. The clinical features are different from those of myelomeningocele in many aspects. Though the incidence is low, terminal myelocystocele should be included in the differential diagnosis of congenital lesions presenting as a lumbosacral mass.
PMCID: PMC3053929  PMID: 8835771
2.  Imaging of terminal myelocystoceles. 
This article presents a retrospective analysis of the presentation, imaging studies, and associated findings in 20 children with surgically and histologically proven terminal myelocystoceles. All 20 children presented at birth with a black mass; 13 had cloacal extrophy. The patient population was comprised of 15 girls and 5 with ambiguous genitalia: Of the imaging studies, 8 had plain radiographs, 6 myelography-computed tomography, 11 ultrasound, and 14 magnetic resonance. The associated findings included Chiari I (eight patients), Chiari II (one patient), hydromyelia (three patients), hydrocephalus (three patients), and vertebral segmentation anomalies (six patients). Magnetic resonance imaging was the best imaging modality to diagnose and evaluate children with a myelocystocele. Magnetic resonance imaging demonstrated the classic findings: a terminal cyst of the central canal of the spinal cord that is tethered and herniated with arachnoid and cerebrospinal fluid through an area of spinal dysphria onto the back as a mass.
Images
PMCID: PMC2608070  PMID: 8803433
3.  Cervical myelocystocele: Case report and review of literature 
Dysraphisms involving cervical region are very rare and there are very few series describing their follow-up in literature. Here, we report a 6-year-old boy who underwent postnatal “cosmetic” repair of posterior cervical cystic lesion and presented to us with a large recurrence with syringohydromyelia and tethering. Tethered cord should be suspected in the presence of meningocele and intact neurology. Treatment protocols of such complicated cervical spinal dysraphisms should include intradural exploration and detethering, with an aim to prevent neurological deterioration in future.
doi:10.4103/1817-1745.84410
PMCID: PMC3173918  PMID: 21977091
Cervical myelomeningocele; recurrence; tethered cord
4.  An unusual case of 4 level spinal dysraphism: Multiple composite type 1 and type 2 split cord malformation, dorsal myelocystocele and hydrocephalous 
The authors here have reported a rare case of a child with a complex spina bifida with two different levels of split cord malformation (SCM) type 1 and single level type 2, a non terminal myelocystocele, coccygeal dermal sinus, bifid fatty filum and hydrocephalus, which substantiates the neuroenteric canal theory and have further tried to highlight the importance of complete Magnetic resonance imaging (MRI) screening of the whole spine and brain with SCM to rule out other associated conditions. The patient was admitted with a leaking myelocystocele with bilateral lower limb weakness. MRI of whole spine with screening of brain was done. Patient underwent 5 operations in the same sitting- (According to classification given by Mahapatra et al.) removal of SCM type 1a at D7-8; removal of SCM type1c at L2-3; removal of SCM type 2 at D10; repair of non terminal myelocystocele at D6-D10; low pressure ventriculoperitoneal shunt on right side with excision of dermal coccygeal sinus; and, excision of bifid fatty filum. The clinicoradiological findings in our patient further substantiate the multiple accessory neuroenteric canal theory in the development of composite type of SCM. The physical and neurological signs of SCM and nonterminal myelocystocele should prompt the neurosurgeon to consider performing the screening MRI of whole spine with brain to rule out other composite types of SCM and hydrocephalus.
doi:10.4103/1817-1745.84411
PMCID: PMC3173919  PMID: 21977092
4 level spinal dysraphism; non terminal myelocystocele; one stage surgery; spinal cord malformation
5.  Gluteal pseudophallus in a male child: A rare cutaneous marker of occult spinal dysraphism 
Congenital midline paraspinal cutaneous markers have been practically linked to the location and nature of neural-tissue lesions. One of the most interesting congenital midline paraspinal cutaneous markers has been the human tail in the lumbosacral region, with underlying spinal dysraphism. Human tails have many shapes and sizes and are usually localized to the lumbosacral region. After a complete neurological examination, the MRI is the most sensitive diagnostic modality to reveal the underlying occult spinal dysraphic state. Surgical excision is aimed at untethering of the spinal cord in symptomatic children and for aesthetic reasons in asymptomatic patients. Here we report an asymptomatic male child with normal external genitilia, whose tail is attached to the gluteal region like an adult phallus and investigations revealed an underlying spinal dysraphic state.
doi:10.4103/1817-1745.57343
PMCID: PMC3162781  PMID: 21887197
Gluteal pseudophallus; male child; occult spinal dysraphism
6.  A rare case of giant terminal lipomyelocystocele with partial sacral agenesis 
Terminal myelocystoceles (TMCs) are a rare form of occult spinal dysraphism. They constitute approximately 5% of skin covered lumbosacral masses. The TMC is composed of a low-lying conus medullaris with cystic dilatation of caudal central canal, a surrounding meningocele and a lipoma that extends from the conus to a subcutaneous fat collection. A 6-month-old female child presented with a large lumbosacral mass (14 cm × 12 cm × 10 cm) and weakness at the ankle joints since birth. Magnetic resonance imaging and computed tomography scan revealed a low-lying terminal lipomyelocystocele with holocord syrinx and partial sacral agenesis. The child was operated on successfully. This is an interesting and rare case of giant terminal lipomyelocystocoele with syrinx and a partial sacral agenesis. Terminal lipomyelocystocele should be included in the differential diagnosis of congenital lesions presenting as a lumbosacral mass and operated early.
doi:10.4103/1817-1745.111425
PMCID: PMC3680899  PMID: 23772247
Giant terminal lipomyelocystocoele; sacral agenesis; syrinx
7.  Multiple neural tube defects in the same patient with no neurological deficit 
Congenital deformities involving the coverings of the nervous system are called neural tube defects (NTDs). NTD can be classified as neurulation defects, which occur by stage 12, and postneurulation defects. Cervical meningocele and myelomeningocele are rare spinal dysraphic lesions. Unlike lumbosacral dysraphic lesions, there is often no neurologic deficits and thus the subtle features of cervical cord tethering may be overlooked on imaging. The presence of meningomyelocele and/or encephaloceles at multiple (two or more) sites along the vertebral axis is a very rare event occurring in <1% of cases. Less than 10 cases have been described in the published literature. We are reporting a case of multiple NTD in same patient with no neurological deficit.
doi:10.4103/1817-1745.66677
PMCID: PMC2964786  PMID: 21042511
Dermal sinus; meningomyelocele; neral tube defect; tethered cord
8.  The lumbosacral angle does not reflect progressive tethered cord syndrome in children with spinal dysraphism 
Child's Nervous System  2010;26(12):1757-1764.
Purpose
Our goal was to validate the hypothesis that the lumbosacral angle (LSA) increases in children with spinal dysraphism who present with progressive symptoms and signs of tethered cord syndrome (TCS), and if so, to determine for which different types and/or levels the LSA would be a valid indicator of progressive TCS. Moreover, we studied the influence of surgical untethering and eventual retethering on the LSA.
Methods
We retrospectively analyzed the data of 33 children with spinal dysraphism and 33 controls with medulloblastoma. We measured the LSA at different moments during follow-up and correlated this with progression in symptomatology.
Results
LSA measurements had an acceptable intra- and interobserver variability, however, some children with severe deformity of the caudal part of the spinal column, and for obvious reasons those with caudal regression syndrome were excluded. LSA measurements in children with spinal dysraphism were significantly different from the control group (mean LSA change, 21.0° and 3.1° respectively). However, both groups were not age-matched, and when dividing both groups into comparable age categories, we no longer observed a significant difference. Moreover, we did not observe a significant difference between 26 children with progressive TCS as opposed to seven children with stable TCS (mean LSA change, 20.6° and 22.4° respectively).
Conclusions
We did not observe significant differences in LSA measurements for children with clinically progressive TCS as opposed to clinically stable TCS. Therefore, the LSA does not help the clinician to determine if there is significant spinal cord tethering, nor if surgical untethering is needed.
doi:10.1007/s00381-010-1281-0
PMCID: PMC2981732  PMID: 20857121
Lumbosacral angle; Spinal dysraphism; Tethered cord syndrome; Untethering
9.  Surgical Treatment of a Patient with Human Tail and Multiple Abnormalities of the Spinal Cord and Column 
Advances in Orthopedics  2010;2011:153797.
The dorsal cutaneous appendage, or so-called human tail, is often considered to be a cutaneous marker of underlying occult dysraphism. The authors present a case of human tail occurring in a 9-month-old infant with multiple abnormalities of the spinal cord and spine. Examination revealed unremarkable except for a caudal appendage and a dark pigmentation area in the low back. Neuroradiological scans revealed cleft vertebrae and bifid ribbon, split cord malformations, block vertebrae, and hemivertebra. Surgical excision of the tail and untethering the spinal cord by removal of the septum were performed. The infant had an uneventful postoperative period and was unchanged neurologically for 18 months of followup. To our knowledge, no similar case reports exist in the literature. The specific features in a rare case with a human tail treated surgically are discussed in light of the available literature.
doi:10.4061/2011/153797
PMCID: PMC3170723  PMID: 21991405
10.  Tethered Spinal Cord with Double Spinal Lipomas 
Journal of Korean Medical Science  2006;21(6):1133-1135.
Although lumbosacral lipoma is reported to occur in 4-8 of 100,000 patients, and 66% of lipomyelomeningoceles in young patients are accompanied by hypertrophic filum terminale, it is very rare to find two isolated spinal lipomas simultaneously. A 3 month-old baby girl was admitted to the hospital for a protruding, non-tender, soft, subcutaneous 2.5 cm mass of the lumbosacral area that had been present since birth. Simple radiography showed a spinal posterior arch defect from L3 to L5, and magnetic resonance imaging (MRI) demonstrated two isolated spinal lipomas, a transitional type from L3 to L5, and a terminal type below S1 without dural defect. The cornus medullaris was severely tethered descending to the S1, but there was no cerebellar or brain stem herniation on the MRI. We suggest that the presence of a combined spinal lipoma should be a point for careful differentiation in an infant with spinal lipoma.
doi:10.3346/jkms.2006.21.6.1133
PMCID: PMC2721945  PMID: 17179703
Lipoma; Spinal Dysraphism; Tethered Cord Syndrome; Neural Tube Defects
11.  Brain and spinal manifestations of Miller-Dieker syndrome 
Neurology. Clinical Practice  2013;3(1):82-83.
A 6-month-old infant with LIS1 17p13.3 deletion-positive Miller-Dieker syndrome (MDS) presented with increased seizures in the setting of a Pseudomonal and Enterococcal urinary tract infection and a buttock abscess associated with a lumbosacral dermal sinus tract. MRI of the neuraxis revealed lissencephaly (figure 1), a tethered cord without lipoma or other mass (figure 2A), and an infected lumbosacral dermal sinus tract. Communication with the spinal canal could not be appreciated (figure 2B). The dermal sinus was explored and found not to extend into the spinal canal. This tract was excised and the lateral abscess drained. Tethered cord release is planned upon resolution of infection.
doi:10.1212/CPJ.0b013e318278be63
PMCID: PMC3613215  PMID: 23634385
12.  Occult Spinal Dysraphism in the Presence of Rare Cutaneous Stigma in a Neonate: Importance of Ultrasound and Magnetic Resonance Imaging 
Case Reports in Medicine  2013;2013:468376.
Occult spinal dysraphism is defined as a group of dystrophic conditions below an intact cover of dermis and epidermis. Ultrasonography using linear transducers is a fast, inexpensive, and effective method that makes it possible to view the content of the vertebral canal and bone structures. Magnetic resonance imaging (MRI) is reserved for elucidating the type of dysraphism and for planning corrective surgery. We present a case of a five-day-old female neonate who presented cutaneous stigmas (in the lumbar region, hands, and feet), in whom ultrasonography demonstrated dysraphism in the lumbar region. MRI confirmed the type of dysraphism and enabled surgical planning.
doi:10.1155/2013/468376
PMCID: PMC3677004  PMID: 23762072
13.  Tethered Cord Syndrome Secondary to the Unusual Constellation of a Split Cord Malformation, Lumbar Myelomeningocele, and Coexisting Neurenteric Cyst 
We describe a seminal case report of a child with a tethered cord syndrome secondary to the unusual constellation of a split cord malformation, lumbar myelomeningocele, and coexisting neurenteric cyst. A 17-year-old adolescent girl with a several-month history of myelopathy and urinary incontinence was examined whose spinal MRI scan demonstrated a type II split cord malformation with a large bone spur and an intradural neurenteric cyst in addition to lumbar myelomeningocele. Untethering of the spinal cord was achieved via a lumbar laminectomy. Pathological examination confirmed the intradural cyst to be a neurenteric cyst. Postoperatively there was stabilization of the neurological symptoms. Prophylactic surgery with total resection of the neurenteric cyst when feasible and spinal cord un-tethering appears to be associated with excellent outcomes.
doi:10.1155/2012/635029
PMCID: PMC3443571  PMID: 22991678
14.  Dorsal intramedullary spinal epidermoid cysts: Report of two cases and review of literature 
Indian Journal of Orthopaedics  2007;41(4):395-397.
Intramedullary epidermoid cysts of the spinal cord are rare tumors, especially those not associated with spinal dysraphism. About 50 cases have been reported in the literature. Of these, only seven cases have had magnetic resonance imaging (MRI) studies. We report two cases of spinal intramedullary epidermoid cysts with MR imaging. Both were not associated with spina bifida. In one patient, the tumor was located at D4 vertebral level; while in the other, within the conus medullaris. The clinical features, MRI characteristics and surgical treatment of intramedullary epidermoid cyst are presented with relevant review of the literature.
doi:10.4103/0019-5413.37005
PMCID: PMC2989522  PMID: 21139798
Cysts; epidermoid; intramedullary; magnetic resonance imaging
15.  Spinal congenital dermal sinus--experience of 5 cases over a period of 10 years. 
Spinal congenital dermal sinus (CDS) is a rare entity which supposedly results from the failure of the neuroectoderm to separate from the cutaneous ectoderm during the process of neurulation. The lesions are most frequent at the lumbosacral followed by the occipital region. CDS of the thoracic region is very rare. The patients with spinal CDS present with meningitis and/or mass effect from the associated inclusion tumor. They are usually dermoid or epidermoid cysts. Teratoma is rarely associated. The authors experienced 5 cases of spinal CDS over a 10 year period. Of the 5 cases, 2 were at thoracic and 3 were at lumbosacral levels. Dermoid cyst, epidermoid cyst and teratoma were associated in one case each. Two cases presented with neurological deficit and meningitis while an additional case presented with neurological deficit and a history of probable meningitis. Pain was present in 2 cases. Magnetic resonance imaging played an important role in the diagnosis of the lesion and planning of surgery. All the cases showed a good response to surgery even though one patient had persistent neurological deficit.
PMCID: PMC3053715  PMID: 8305142
16.  MRI diagnosis of diastematomyelia in a 78-year-old woman: Case report and literature review 
Polish Journal of Radiology  2010;75(2):82-87.
Summary
Background:
Diastematomyelia is a rare congenital malformation of the spinal cord, which belongs to the group of occult spinal dysraphisms. This disorder consists in the separation of the spinal cord into two parts in the sagittal plane (hemicords). Diastematomyelia may coexist with other spinal dysraphisms, such as myelomeningocele, meningocele, spinal lipoma, neuroenteric cysts or dermal sinuses and vertebral abnormalities, such as hemivertebrae, butterfly vertebrae or scoliosis.
Case Report:
We reported a case of a woman with a congenital defect of the spinal cord, in the form of diastematomyelia, which was diagnosed at the age of 78. The patient had been complaining of back pain for many years. The X-ray radiograms showed the fusion of vertebra L3–L4, defective fusion of posterior spinal bony elements L5–S1. Moreover, abnormal hair growth (hypertrichosis) in the lumbar region was found. The separation of the spinal cord was only diagnosed in MR imaging which was performed at the age of 78.
Conclusions:
Diastematomyelia is mostly diagnosed in the prenatal period or in children; much less often in adults. This disorder has to be taken into account in differential diagnosis in patients with X-rays revealing defects of the spine in the form of hemivertebrae, butterfly vertebrae or the fusion of vertebrae, especially when there are additional skin lesions in the back area, at the level of the diagnosed osseous anomalies.
PMCID: PMC3389875  PMID: 22802781
diastematomyelia; spinal dysraphism; hypertrichosis; MRI
17.  Dermoid cyst: A rare intramedullary inclusion cyst 
Asian Journal of Neurosurgery  2012;7(2):81-83.
Intramedullary dermoid cysts are rare tumors, especially those not associated with spinal dysraphism. Only six cases have been reported in the literature. Of these, only two cases have had magnetic resonance imaging studies. We report a case of an 18-year-old female patient, who presented with progressive weakness of both the lower limbs and wasting of both the upper limbs. Magnetic resonance imaging (MRI) showed an intramedullary lesion extending from C3 to D2 with peripheral enhancement on contrast. Decompression of the cystic contents with partial removal of cyst wall was done. Hair with oily cholesterol and keratin debris was encountered. Histopathology confirmed the diagnosis of dermoid cyst. This case adds to the previous reported cases of the rare and uncommon intramedullary space occupying lesions of the spinal cord.
doi:10.4103/1793-5482.98651
PMCID: PMC3410166  PMID: 22870157
Intramedullary cysts; intramedullary tumors; intraspinal dermoid cysts
18.  Child with a Tail 
Spina Bifida occulta usually presents with some cutaneous stigmata e.g. hair patch, sinus, lipoma, hyperpigmented skin and very rarely a congenital tail. A congenital tail may and may not be associated with spina bifida occulta and tethered cord. A four month old male child presented with congenital tail which was associated with spinal dysraphism and caused tethering of the cord itself. The tail and tethering lesion were excised successfully.
PMCID: PMC3863831  PMID: 24381838
Spina bifida; Spinal dysraphism; Congenital tail; Tethered spinal cord
19.  Tethered cord with tandem lipomyelomeningoceles, split cord malformation and thick filum 
Lipomyelomeningocele, a closed neural tube defect, usually occurs in lumbosacral area as a single lesion but can be associated with other spinal dysraphism. We report an infant with a very rare presentation of tandem lumbosacral lipomyelomeningoceles, thick filum terminale and split cord malformation.
doi:10.4103/1817-1745.123665
PMCID: PMC3888036  PMID: 24470813
Lipomyelomeningocele; split cord malformation; tandem lesion
20.  Spinal dysraphism and cavovarus foot deformity: a case report 
Neurological impairment secondary to spinal dysraphism most commonly presents as unilateral cavovarus foot in children. The deformity usually develops in the growing child around the age of five or six. The presence of a cavovarus foot of unknown origin in a child should lead to a complete neurological examination, including an assessment of the spine for spinal dysraphism. The early recognition of pathology may prevent severe neurological sequelae. A case of lipomyelomeningocele is presented to illustrate that cord damage in children with spinal dysraphism can present initially as a cavovarus foot.
Images
PMCID: PMC2484823
spinal dysraphism; lipomyelomeningocele; cavovarus foot
21.  Magnetic resonance imaging in neurological disorders. 
Archives of Disease in Childhood  1990;65(9):922-929.
To investigate the role of magnetic resonance imaging (MRI) in neurological disorders, 115 children were studied in two groups. Group A (78 patients) was studied by paired computed tomography and MRI cranial scans. Group B (37 patients) was studied by paired computed tomography assisted myelography (CTM) and MRI spinal scans. In group A, the scans were generally equivalent for supratentorial tumours and for investigating fits, hydrocephalus, benign intracranial hypertension, and cerebral atrophies, but MRI scanning was superior for posterior fossa tumours and cysts. In group B, MRI scans were superior for intramedullary spinal tumours, spinal dysraphic problems with tethering or syrinx, and were complementary to CTM in diastematomyelia.
Images
PMCID: PMC1792112  PMID: 2221962
22.  Limited access surgery for 360 degrees in-situ fusion in a dysraphic patient with high-grade spondylolisthesis 
European Spine Journal  2011;21(3):390-395.
Progressive high-grade spondylolisthesis can lead to spinal imbalance. High-grade spondylolisthesis is often reduced and fused in unbalanced pelvises, whereas in-situ fusion is used more often in balanced patients. The surgical goal is to recreate or maintain sagittal balance but if anatomical reduction is necessary, the risk of nerval damage with nerve root disruption in worst cases is increased. Spinal dysraphism like spina bifida or tethered cord syndrome make it very difficult to achieve reduction and posterior fusion due to altered anatomy putting the focus on anterior column support. Intensive neural structure manipulation should be avoided to reduce neurological complications and re-tethering in these cases. A 26-year-old patient with a history of diastematomyelia, occult spina bifida and tethered cord syndrome presented with new onset of severe low back pain, and bilateral L5/S1 sciatica after a fall. The X-ray demonstrated a grade III spondylolisthesis with spina bifida and the MRI scan revealed bilateral severely narrowed exit foramina L5 due to the listhesis. Because she was well balanced sagittally, the decision for in-situ fusion was made to minimise the risk of neurological disturbance through reduction. Anterior fusion was favoured to minimise manipulation of the dysraphic neural structures. Fusion was achieved via isolated access to the L4/L5 disc space. A L5 transvertebral hollow modular anchorage (HMA) screw was passed into the sacrum from the L4/L5 disc space and interbody fusion of L4/L5 was performed with a cage. The construct was augmented with pedicle screw fixation L4–S1 via a less invasive bilateral muscle split for better anterior biomechanical support. The postoperative course was uneventful and fusion was CT confirmed at the 6-month follow-up. At the last follow-up, she worked full time, was completely pain free and not limited in her free-time activities. The simultaneous presence of high-grade spondylolisthesis and spinal dysraphism make it very difficult to find a decisive treatment plan because both posterior and anterior treatment strategies have advantages and disadvantages in these challenging cases. The described technique combines several surgical options to achieve 360° fusion with limited access, reducing the risk of neurological sequelae.
doi:10.1007/s00586-011-1994-0
PMCID: PMC3296860  PMID: 22008862
High-grade spondylolisthesis; In-situ fusion; HMA screw; Tethered cord; Spina bifida
23.  Congenital dermal sinus in mid-dorsal spine with large intramedullary dermoid cyst in an 18-months-old child 
Intramedullary dermoid cyst is a rare entity. It is usually associated with spinal dysraphism and dermal sinus. Our case is an 18-months-old female child who presented with history of fever and mild difficulty in moving left leg. She had a sinus in mid dorsal spine since birth with history of intermittent discharge from it. On magnetic resonance imaging of spine she was diagnosed to have large intramedullary epidermoid/dermoid cyst in the D2-7 vertebral level with a sinus tract. A dermoid cyst along with the sinus tract was excised. Post-operative follow up period was uneventful with full recovery.
doi:10.4103/1817-1745.123663
PMCID: PMC3888035  PMID: 24470812
Dermal sinus; dermoid cyst; dorsal spine; intramedullary tumor
24.  Terminal myelocystocele with holocord syringomyelia: Short report 
doi:10.4103/1817-1745.117863
PMCID: PMC3783733  PMID: 24082944
25.  Spinal Intradural Extramedullary Mature Cystic Teratoma in an Adult 
Spinal intradural extramedullary teratoma is a rare condition that develops more commonly in children than in adults and may be associated with spinal dysraphism. We report a rare case of adult-onset intradural extramedullary teratoma in the thoracolumbar spinal cord with no evidence of spinal dysraphism and without the history of prior spinal surgery. The patient was a 38-year-old male whose chief complaint was urinary incontinence. X-ray images of the thoracolumbar spine showed the widening of the interpedicular distance and posterior marginal erosion of the vertebral bodies and pedicles at the T11, T12, and L1 level. Magnetic resonance imagings of the lumbar spine showed a lobulated inhomogeneous high signal intradural mass (87×29×20 mm) between T11 and L1 and a high signal fluid collection at the T11 level. Laminectomy of the T11-L1 region was performed, and the mass was subtotally excised. The resected tumor was histopathologically diagnosed as a mature cystic teratoma. The patient's symptom of urinary incontinence was improved following the surgery.
doi:10.3340/jkns.2008.44.5.334
PMCID: PMC2612572  PMID: 19119471
Spinal cord neoplasm; Mature teratoma

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