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[Sirenomelia: a case report].

Revista medica del Instituto Mexicano del Seguro Social·2024
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[Craniorachischisis: a case report].

Christian Emmanuel Rodríguez-Partida1, Iván André Guzmán-Amador1, Félix José Molina-Aguiar1

  • 1Instituto Mexicano del Seguro Social, Hospital General Regional No. 1, Departamento de Ginecología y Obstetricia. Mérida, Yucatán, México.

Revista Medica Del Instituto Mexicano Del Seguro Social
|March 11, 2022
PubMed
Summary

Craniorachischisis, a severe neural tube defect, is a rare and fatal condition. Early diagnosis is crucial for managing pregnancies involving this severe congenital anomaly.

Keywords:
AnencephalyFolic AcidNeural Tube DefectsSpinal Dysraphism

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Area of Science:

  • Obstetrics and Gynecology
  • Developmental Biology
  • Medical Imaging

Background:

  • Neural tube defects (NTDs) are complex congenital anomalies with multifactorial origins.
  • NTDs arise from failed closure of the neural tube, affecting the central nervous system and surrounding structures.
  • These defects encompass a wide spectrum of severity and involve various tissues including skin, bone, and spinal cord.

Observation:

  • A case report details a 36-year-old woman at 25.3 weeks gestation with a history of anencephaly in a prior pregnancy.
  • The current pregnancy was characterized by suboptimal prenatal care.
  • Obstetric ultrasound confirmed a diagnosis of craniorachischisis.

Findings:

  • Craniorachischisis represents an extremely rare and severe form of neural tube defect.
  • The condition is characterized by a failure of neural tube closure, resulting in exposed neural tissue.
  • Diagnosis via second-trimester ultrasound is critical for understanding the prognosis.

Implications:

  • Craniorachischisis is universally considered incompatible with life, necessitating early diagnosis and management planning.
  • This case underscores the importance of advanced prenatal imaging in identifying severe congenital anomalies.
  • Understanding the presentation and prognosis of craniorachischisis is vital for genetic counseling and obstetric decision-making.