Craniovertebral junction stenosis in Lenz-Majewski syndrome

Area of Science:

• Pediatric Neurology
• Medical Genetics
• Neurosurgery

Background:

• Lenz-Majewski syndrome is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and developmental delays.
• Craniovertebral junction (CVJ) stenosis is a narrowing of the bony canal at the base of the skull where it meets the spine.
• Communicating hydrocephalus is the buildup of cerebrospinal fluid in the brain, while cervical myelopathy involves spinal cord compression in the neck.

Observation:

• This report details a case of a young girl diagnosed with Lenz-Majewski syndrome.
• The patient presented with significant craniovertebral junction stenosis, progressing rapidly in early childhood.
• This stenosis led to the development of communicating hydrocephalus and cervical myelopathy.

Findings:

• Progressive craniovertebral hyperostosis was identified as the life-threatening complication.
• Surgical intervention at 2 years of age provided initial success but was ultimately insufficient.
• The child experienced apneic spells and died suddenly at age 5 years.

Implications:

• This case highlights the critical need for vigilant monitoring of craniovertebral junction stenosis in children with Lenz-Majewski syndrome.
• Early detection and management of CVJ stenosis may reduce the significant morbidity and mortality associated with this condition.
• Further research into the specific mechanisms of craniovertebral hyperostosis in Lenz-Majewski syndrome is warranted.