We describe a case of young boy with limping gait and bilateral hip pain. Skeletal survey and routine blood analysis were done. Subsequent radiographs of lumbar spine and pelvis were performed to reach to the final diagnosis.
A thirteen-year-old boy presented with pain in bilateral hips and limping since one year. Principal abnormalities on examination were short stature with particular shortening of the spine in relation to the limbs but no obvious kyphosis or scoliosis was seen. He had painful limitation of hip movements. Routine blood tests were normal. Skeletal survey was done. Radiographs of anteroposterior and lateral lumbar spine views shows (Fig 1a, b) platyspondyly (flattened vertebral bodies) with characteristic superior and inferior "humping" seen better on lateral view. Anteroposterior radiograph of pelvis involving both the hip joints reveals (Fig 2) expansile femoral head and neck shortening with areas of sclerosis and lucency, mild coxa vara and evidence of premature osteoarthritis beginning in young adulthood.
Spondyloepiphyseal dysplasia tarda (SEDT) belongs to osteochondrodystrophies result from structural defects in type II collagen (3) refers to deformed vertebrae and distorted epiphyseal ends of long bones(1, 2). SED tarda, the X-linked recessive condition occurs only in male subjects and generally becomes evident between the ages of 5 and 10 years because of impaired spinal growth, in addition autosomal dominant and autosomal recessive forms also occur. Patients with SEDT have disproportionately short stature with a short trunk. At birth, affected males are normal in length and achieve normal body proportions. Progressive joint and back pain with osteoarthritis ensues. They have normal motor and cognitive milestones. The extremities and face are normal. The cardinal radiographic features of spine are platyspondyly with mounds of dense bone in the central and posterior parts of the superior and inferior vertebral end plates (1,2).Odontoid hypoplasia or os odontoideum may cause atlantoaxial instability, but is more common in the congenital type (5).Molecular genetic testing reveals a mutation in SED locus (chromosomal locus Xp22.2-p22.1) in >80% of affected males with a clinical diagnosis(3). Such genetic testing is available on research basis only. The differential diagnosis of spondyloepiphyseal dysplasia tarda may be confused with Legg Calve Perthes disease. However in spondyloepiphyseal dysplasia tarda the involvement is symmetrical, while in bilateral perthes disease involvement is asymmetric with one hip more radiographically affected than the other. Mucopolysaccharidoses type IV (Morquio-Brailsford disease) shows coxa valga, corneal clouding, cardiac and visceral involvement, atlantoaxial instability. In Multiple epiphyseal dysplasia there is no significant vertebral changes, Mild end plate changes but intervertebral disc spaces are well preserved (4).
Spondyloepiphyseal dysplasia tarda (SEDT)
Based on the provided lateral lumbar spine and anteroposterior pelvic X-ray images, the following key features are observed:
1. Lumbar Vertebral Bodies: A notable flattening of the vertebral bodies (platyspondyly) is present, with increased density visible in the central region of the superior and inferior endplates, presenting a “hill-shaped” change.
2. Hip Joints: Bilateral hip joints show developmental abnormalities in the femoral head shape and joint space, with symmetrical changes. There is no clear unilateral collapse or large-scale necrosis.
3. Others: No obvious signs of fractures or soft tissue swelling are noted in the pelvis and surrounding tissues. The overall structural abnormalities in both the spine and hip joints appear relatively symmetrical.
Considering the patient’s sex, age of onset (around 5–10 years), bilateral hip pain with limping, and spinal imaging features (vertebral flattening with increased density in the central and posterior portions of the endplates), there is a strong indication of Spondyloepiphyseal Dysplasia Tarda (SEDT). This condition is often X-linked recessive, mainly affecting boys, with spinal and joint symptoms typically presenting during school age. Hence, SEDT is the most likely diagnosis in this case.
1. Conservative Treatment:
• Early management may include non-steroidal anti-inflammatory drugs (NSAIDs) to alleviate joint and lower back pain.
• Physical Therapy and Bracing: For lumbar instability or abnormal posture, bracing or lumbar support could be considered. In cases with significant joint symptoms, weight-bearing should be reduced.
2. Surgical Indications:
• If severe joint deformities or spinal deformities with neurological symptoms occur, surgical correction or joint replacement may be considered.
• If atlantoaxial instability with spinal cord or nerve root compression risk is present, surgical intervention should be evaluated.
3. Rehabilitation and Exercise Prescription (FITT-VP Principle):
• Frequency: 3–5 times per week of mild to moderate intensity rehabilitation exercises.
• Intensity: Guided by absence or minimal pain, maintaining a heart rate increase within a tolerable range.
• Time: 20–30 minutes per session, increasing gradually based on the patient’s condition. It can be split into two segments of 10–15 minutes each to avoid overexertion.
• Type: Emphasize low-impact exercises such as swimming, stationary cycling, and range of motion activities; avoid high-impact or strenuous contact sports.
• Progression: Gradually increase the duration or slightly raise the intensity as spinal and hip pain improves. When safe, incorporate core muscle strengthening exercises to support spinal stability.
• Precautions: Patients with skeletal developmental abnormalities should avoid high-intensity or repetitive impact on the spine and hips. If discomfort arises during exercise, stop immediately and seek professional advice.
This report is based solely on the provided images and clinical information for reference purposes and cannot replace a formal in-person consultation or professional medical opinion. If you have further questions or if the condition changes, please visit a qualified medical institution in a timely manner.
Spondyloepiphyseal dysplasia tarda (SEDT)
