Case Presentation A 27-year-old female patient, primigravida, with no pathological clinical history, and a low risk first-trimester screening for aneuploidy and preeclampsia. Morphological ultrasound was performed at 21 weeks of gestational age, revealing a cystic structure at the lumbosacral spine with bone alteration. Myelomeningocele was suspected, but no associated Chiari type II anomaly was observed. Additional Fetal Magnetic Resonance Imaging (Fetal MRI) was requested. Findings At 24 weeks, an obstetric ultrasound was made identifying a cystic image at the lumbosacral level with the absence of a placode. An osseous spur protruding into the medullary canal was observed, dividing the medullary cone in two. Suspicious fatty tissue suggestive of a lipoma was also noted. Fetal MRI confirmed the ultrasound findings, consistent with diastematomyelia (DM) associated with closed meningocele, lipoma, and medullary canal ectasia. Discussion Dysraphism are congenital malformations of the spinal canal, with a prevalence of 1 to 3 per 1000 live births, and the lumbosacral spine being the most commonly affected site. DM is a closed-type dysraphia in which there is a splitting of the spinal cord into two halves separated by a fibrous, cartilaginous, or bony septum. Clinical manifestations are variable and are typically related to orthopedic problems, urinary or fecal incontinence, and characteristic cutaneous abnormalities. When isolated, DM tends to have a favorable prognosis, but approximately one-third of affected patients have an accompanying dysraphism. Current recommendations include early postnatal surgery to prevent further complications. Conclusion DM is a rare disorder of spinal development that can be diagnosed prenatally through imaging. Precise identification of the lesion and the exclusion of other associated structural malformations are crucial for prognosis.
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Meeting name:
SPR 2024 Annual Meeting & Postgraduate Course
, 2024
Authors:
Pelizzari Mario,
Montalvetti Pablo,
Joulia Vulekovich Lara,
Ledesma Ricardo
Keywords:
diastematomyelia,
Fetal MRI,
Ultrasonography