Hyperkyphosis and Diffuse Platyspondyly in a 20-Year-Old Woman with Laron Syndrome: A Case Report

Abstract

Background: Laron syndrome (LS) is a rare genetic disorder caused by
mutations in the growth hormone receptor gene. It is characterized
by severe dwarfism resistant to growth hormones, metabolic
abnormalities, and an increased risk of developing type 2 diabetes.
Patients with LS often present with spinal abnormalities, including
hyperkyphosis. However, hyperkyphosis and diffuse platyspondyly are
unusual features in patients with LS; to our knowledge, no case has
been reported to date.
Case Report: This report presents the case of a 20-year-old
woman with LS who visited the orthopedic outpatient clinic with
hyperkyphosis. She received an LS diagnosis during childhood, and
her family members also had hyperkyphosis. The patient reported a
gradual worsening of her condition, accompanied by back pain and
difficulty in daily activities. Physical examination showed increased
thoracic curvature and reduced height. Radiographic investigations
included long spine radiographs, a computed tomography scan, and
magnetic resonance imaging. The radiographs revealed kyphosis
with flattened vertebral bodies, and the magnetic resonance imaging
demonstrated degenerative changes and spinal cord assessment.
Diffuse platyspondyly, kyphosis centered around the T11 level, and
degenerative changes were observed.
Conclusion: The case report highlights hyperkyphosis in a patient
with LS and emphasizes the importance of further investigation
for hereditary skeletal dysplasia. This case report contributes to the
understanding of the musculoskeletal manifestations of LS, specifically
hyperkyphosis and spinal abnormalities. Further research is warranted
to explore the underlying mechanisms and develop targeted treatment
strategies for individuals with LS and its associated spinal deformities.