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Congenital caudal spinal atrophy: a case report
H Tsukamoto1, M Inagaki, Y Tomita
1Division of Child Neurology, Tottori University Faculty of Medicine, Yonago, Japan.
Insights
A novel congenital condition, congenital caudal spinal atrophy, presents in infants with lower limb weakness and muscle wasting. This spinal cord abnormality affects anterior horn cells, leading to significant motor deficits.
Area of Science:
- Neurology
- Pediatric Neurology
- Developmental Biology
Background:
- Congenital neurological disorders can present with diverse motor impairments in newborns.
- Early diagnosis and understanding of rare pediatric conditions are crucial for effective management.
Observation:
- An infant exhibited symmetrical flaccid paraparesis affecting proximal and distal lower limb muscles, with ankle joint limitations.
- Clinical examination revealed no sensory deficits or sphincter control issues.
- Muscle CT showed severe pelvic and lower limb muscle atrophy; EMG indicated polyphasic giant potentials in hamstrings.
Findings:
- Motor and sensory nerve conduction velocities were normal.
- Spinal MRI demonstrated no structural abnormalities in the spinal cord or lower spine.
- The findings suggest a congenital segmental anterior horn cell abnormality in the lumbosacral spinal cord.
Implications:
- This case proposes a new diagnosis: congenital caudal spinal atrophy.
- Understanding this condition can aid in differentiating it from other causes of infantile lower limb weakness.
- Further research into the genetic and developmental basis of congenital caudal spinal atrophy is warranted.
Abstract:
An infant presented at birth with symmetrical flaccid paraparesis limited to lower legs and feet, and involving the proximal and distal muscle group. Limitation of the ankle joints was noticed. There were no sensory deficits to painful stimuli and no evidence of loss of sphincter control. Muscle CT revealed severe muscle atrophy in the pelvis and lower limbs, and electromyographic study of the bilateral hamstrings showed polyphasic giant potentials. Motor and sensory nerve conduction velocities were within normal limits, and the spinal MRI showed no structural abnormalities in the cord and the lower spine. These features suggest a congenital segmental abnormality at the anterior horn cell level in the lumbosacral spinal cord, which we propose to call "congenital caudal spinal atrophy".