Dados do Trabalho

Título

Diastematomyelia, Prenatal Diagnosis. Case Report

Descrição sucinta do(s) objetivo(s)

The objective of this presentation is to display and correlate imaging findings from fetal magnetic resonance (fMR) imaging and ultrasound (US) in a rare prenatal condition known as Diastematomyelia (DM).

História clínica

A 27-year-old female patient, primigravida, with no pathological clinical history, and a low-risk first-trimester screening for aneuploidies 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 fMRI was requested.

Discussão e diagnóstico

Dysraphism are congenital malformations of the spinal canal, with a prevalence of 1 to 3 per 1000 live births, with 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.
In this case, at 24 weeks of gestation, an obstetric US 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 DM associated with closed meningocele, lipoma, and medullary canal ectasia.

Conclusões

DM is a rare disorder of spinal development that can be diagnosed prenatally through imaging. When isolated, DM tends to have a favorable prognosis, but approximately one-third of affected patients have an accompanying dysraphism. Precise identification of the lesion and the exclusion of other associated structural malformations are crucial for prognosis. Current recommendations include early postnatal surgery to prevent further complications.

Palavras Chave

Prenatal; Fetal MRI; Diastematomyelia

Arquivos

Área

Medicina Fetal