MRI at birth: cervical myelocystocele associated with hydromyelia and lipoma 

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Context 1

... 35-year-old pregnant woman was referred to the obstetric department for further investigations following prenatal assessment of a fetal cervical mass observed on routine ultrasound imaging (US) investigation at 25 weeks of gestation (WG). The US showed a posterior homogeneous cervical mass (15×25 mm; Fig. 1). The malformation was not seen on the first US, performed at 15 WG. Fetal karyotype was normal. Fetal magnetic resonance (MRI) confirmed the ultrasonographic findings and led us to suspect the diagnosis of CMC (Fig. 2). Differential diagnoses such as cervical meningocele or cervical myelomeningocele were subsequently ruled out. There was neither Chiari malformation nor hydrocephalus. Prenatal counselling was requested, and it was decided to pursue the pregnancy. The mother ’ s choice for delivery was caesarean section, which was performed at term. Apgar scores were 10/10 at 1 and 5 min, respectively. The neonate was noted to have a 4×3 cm midline purplish soft tissue mass in the posterior midcervical region with dystrophic skin (Fig. 3). Neurological examination at birth was unremarkable. MRI performed soon after birth demonstrated hydromyelia and a lipoma associated to the malformation (Fig. 4). Surgical management was delayed until 2 months of life. The aim of surgery was to remove the mass and to untether the spinal cord (the spinal cord was tethered posteriorly and after surgery fell into a more anterior position). Histopathological examination confirmed the diagnosis of CMC. Postoperative period was uneventful, and the child was discharged from the hospital at day 6. Two years after, the child has a normal neurological examination, and MRI shows an untethered spinal cord and the persistence of a mild degree of hydromyelia at the level of the malformation (Fig. 5). This case belongs to the wide spectrum of occult spinal dysraphisms. CMC is an extremely rare condition, and only 15 cases are reported throughout the literature [2, 4, 8 – 12]. Among them, only a few cases of CMC benefited from a prenatal diagnosis [4, 9, 10], but none of them provided detailed information about it. Our case suggests a combination of these two subtypes of myelocystoceles: a hydromyelic cavity is seen on MRI (Fig. 4), but the CMC shares all other characteristics of “ Rossi type I ” malformation. We have so far no embryological explanation for this combination of two forms of myelocystoceles Talking about associated malformations, there was neither hydrocephalus nor Chiari II or other malformation in our case. Our newborn did not present with hydrocephalus, but it is of no doubt that closure of this type of malformation may precipitate hydrocephalus. This point needs thus to be assessed in the follow-up. We delayed the operation until 2 months because there was no emergency to perform it soon after birth (no CSF leak, skin-covered malformation, normal neurological examination) and to gain some weight. Our plan was excision of the subcutaneous lump and excision of the myelocystocele and the fibroneurovascular stalk. The defect into the dura was then exposed, the spinal cord was carefully untethered, and closure of the different layers was performed. To our opinion, these children have to be operated on early in life, in the first months. Some children may, however, need a second operation [5]. This case adds to the existing literature in that it shows for the first time antenatal images of an extremely rare spinal dysraphism case. To our knowledge, we hereby report the first published case of cervical myelocystocele with documented prenatal diagnosis. Moreover, this case seems to us a combination of the two major forms described in the literature. Long-term follow-up of CMC is extremely important when considering the risk of late neurological ...

Context 2

... 35-year-old pregnant woman was referred to the obstetric department for further investigations following prenatal assessment of a fetal cervical mass observed on routine ultrasound imaging (US) investigation at 25 weeks of gestation (WG). The US showed a posterior homogeneous cervical mass (15×25 mm; Fig. 1). The malformation was not seen on the first US, performed at 15 WG. Fetal karyotype was normal. Fetal magnetic resonance (MRI) confirmed the ultrasonographic findings and led us to suspect the diagnosis of CMC (Fig. 2). Differential diagnoses such as cervical meningocele or cervical myelomeningocele were subsequently ruled out. There was neither Chiari malformation nor hydrocephalus. Prenatal counselling was requested, and it was decided to pursue the pregnancy. The mother ’ s choice for delivery was caesarean section, which was performed at term. Apgar scores were 10/10 at 1 and 5 min, respectively. The neonate was noted to have a 4×3 cm midline purplish soft tissue mass in the posterior midcervical region with dystrophic skin (Fig. 3). Neurological examination at birth was unremarkable. MRI performed soon after birth demonstrated hydromyelia and a lipoma associated to the malformation (Fig. 4). Surgical management was delayed until 2 months of life. The aim of surgery was to remove the mass and to untether the spinal cord (the spinal cord was tethered posteriorly and after surgery fell into a more anterior position). Histopathological examination confirmed the diagnosis of CMC. Postoperative period was uneventful, and the child was discharged from the hospital at day 6. Two years after, the child has a normal neurological examination, and MRI shows an untethered spinal cord and the persistence of a mild degree of hydromyelia at the level of the malformation (Fig. 5). This case belongs to the wide spectrum of occult spinal dysraphisms. CMC is an extremely rare condition, and only 15 cases are reported throughout the literature [2, 4, 8 – 12]. Among them, only a few cases of CMC benefited from a prenatal diagnosis [4, 9, 10], but none of them provided detailed information about it. Our case suggests a combination of these two subtypes of myelocystoceles: a hydromyelic cavity is seen on MRI (Fig. 4), but the CMC shares all other characteristics of “ Rossi type I ” malformation. We have so far no embryological explanation for this combination of two forms of myelocystoceles Talking about associated malformations, there was neither hydrocephalus nor Chiari II or other malformation in our case. Our newborn did not present with hydrocephalus, but it is of no doubt that closure of this type of malformation may precipitate hydrocephalus. This point needs thus to be assessed in the follow-up. We delayed the operation until 2 months because there was no emergency to perform it soon after birth (no CSF leak, skin-covered malformation, normal neurological examination) and to gain some weight. Our plan was excision of the subcutaneous lump and excision of the myelocystocele and the fibroneurovascular stalk. The defect into the dura was then exposed, the spinal cord was carefully untethered, and closure of the different layers was performed. To our opinion, these children have to be operated on early in life, in the first months. Some children may, however, need a second operation [5]. This case adds to the existing literature in that it shows for the first time antenatal images of an extremely rare spinal dysraphism case. To our knowledge, we hereby report the first published case of cervical myelocystocele with documented prenatal diagnosis. Moreover, this case seems to us a combination of the two major forms described in the literature. Long-term follow-up of CMC is extremely important when considering the risk of late neurological ...