Spina Bifida Occulta, Syringomyelia, and Diastematomyelia in aToddler: A Two-Year Case Report

Spinal dysraphisms are a heterogeneous group of congenital spinal cord anomalies resulting from defective neurulation. They include both open and closed forms, with spina bifida (SB) being the most clinically recognized. These conditions frequently coexist with other anomalies, such as syringomyelia and diastematomyelia, significantly complicating clinical presentation and management. We report the case of a male neonate born at term with a lumbar spinal defect consistent with SB occulta. Initial evaluation revealed a closed, skin-colored lesion with preserved neurological function. Early spinal magnetic resonance imaging (MRI) showed vertebral arch defects, a dorsal cystocele and syringomyelia at the L1-L2 level. The patient underwent early neurosurgical repair of SB at 5 days of age, followed by cyst drainage at 1 year of age when lower extremity weakness developed. Subsequent imaging revealed persistent syringomyelia and diastematomyelia, necessitating additional surgical intervention for spinal cord mobilization. The coexistence of these complex anomalies required multiple staged interventions and close longitudinal monitoring. Complex spinal dysraphism demands a multidisciplinary approach with early surgical management and long-term follow-up to prevent neurological deterioration. This case reinforces the importance of timely diagnosis and staged surgical intervention in improving patient outcomes.

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Publication Details

Journal
The Yale Journal of Biology and Medicine
Published
2026-03-31
DOI
https://doi.org/10.59249/nyjg9626
Primary Topic
Spinal Dysraphism and Malformations
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article
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article

Spina Bifida Occulta, Syringomyelia, and Diastematomyelia in aToddler: A Two-Year Case Report

Merlin Malal Chacko, Yousra Anwar, Avani Krishna Punnakkal Prabin
The Yale Journal of Biology and Medicine
Spinal Dysraphism and Malformations
article

Spina Bifida Occulta, Syringomyelia, and Diastematomyelia in aToddler: A Two-Year Case Report

Merlin Malal Chacko, Yousra Anwar, Avani Krishna Punnakkal Prabin
article en

Abstract

Spinal dysraphisms are a heterogeneous group of congenital spinal cord anomalies resulting from defective neurulation. They include both open and closed forms, with spina bifida (SB) being the most clinically recognized. These conditions frequently coexist with other anomalies, such as syringomyelia and diastematomyelia, significantly complicating clinical presentation and management. We report the case of a male neonate born at term with a lumbar spinal defect consistent with SB occulta. Initial evaluation revealed a closed, skin-colored lesion with preserved neurological function. Early spinal magnetic resonance imaging (MRI) showed vertebral arch defects, a dorsal cystocele and syringomyelia at the L1-L2 level. The patient underwent early neurosurgical repair of SB at 5 days of age, followed by cyst drainage at 1 year of age when lower extremity weakness developed. Subsequent imaging revealed persistent syringomyelia and diastematomyelia, necessitating additional surgical intervention for spinal cord mobilization. The coexistence of these complex anomalies required multiple staged interventions and close longitudinal monitoring. Complex spinal dysraphism demands a multidisciplinary approach with early surgical management and long-term follow-up to prevent neurological deterioration. This case reinforces the importance of timely diagnosis and staged surgical intervention in improving patient outcomes.

The Yale Journal of Biology and MedicineVol. 99(1)
Caucasus University (GE), Caucasus International University (GE), David Tvildiani Medical University (GE)
Good health and well-being
Openalex Percentile: Top 35%
Spinal Dysraphism and Malformations
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Spina Bifida Occulta, Syringomyelia, and Diastematomyelia in aToddler: A Two-Year Case Report — Merlin Malal Chacko, Yousra Anwar, et al. · The Yale Journal of Biology and Medicine (2026) | TGRS Research Map | TGRS