Age / Sex : 19 / M

Chief complaint: both hip pain

1) What is your impression?

Two weeks later, you can see the final diagnosis with a brief discussion of this case.

(Quiz는 quiz일 뿐이오니 답안은 한개만 보내주시기 바라오며, 복수의 답안을 보내주시는 분은 정답이 포함되어 있더라도 부득이 semi-correct answer로 처리토록 하겠습니다.)

Courtesy: 황지영(Ji Young Hwang), 이화여대목동병원(Ewha Womans University School of Medicine Mokdong Hospital)

Multiple epiphyseal dysplasia (MED)

Discussion

Findings: Pelvis AP, Whole leg scannogram, Hip MRI

Bilateral symmetric irregularities
and fragmentations are seen in both femoral heads. Acetabular fossa is well
developed with normal acetabular index. There is no joint effusion in both hip
joints.    

Femoral neck is shorten with high
position of greater trochanter of femur and coxa vara deformity.

Flattening and irregularity are seen
in femoral condyle, bilaterally. Wedge shaped distal epiphyses are seen in
tibia and fibula with slant of tibiotalar joint.   

Hip MRI shows contour irregularity
in both femoral heads without evidence of bone marrow edema.

Differential Diagnosis:  1.
Legg-Calve-Perthes disease, bilateral  

2. Pseudoachondroplasia

Diagnosis:
Multiple epiphyseal dysplasia (MED)

Discussion:

Multiple epiphyseal dysplasia (MED)
is rather well delineated molecularly and proves that radiology does not play
the definitive role in every case. Some cases of typical MED are cartilage
oligomeric protein (COMP) gene defects on chromosome 19. Autosomal dominant
form more common.

The milder type (Ribbing MED) may
entail only hip involvement and can be confused with bilateral
Legg-Calve-Perthes disease and Meyer dysplasia. Differentiation MED from
bilateral Legg-Calve-Perthes disease and Meyer dysplasia is possible because
almost all patients with MED have clinically significant short stature. Many
patients with MED later go through an asymptomatic phase of avascular necrosis
of the femoral head.

The severe type (Fairbanks MED) has
involvement of all the long bone epiphyses to some degree. MED manifests after
about 2 years of age but is mostly diagnosed in an adolescent or young adult. Most
common symptoms are difficulty walking (waddling gait), joint pain, fatigue
after exercise, short stature (but not dwarfism). Involvement is always
bilateral and symmetric.

Radiologic findings are small,
irregular, flattened ossification centers (epiphyses) in extremities and
Schmorl’s nodes in spine of young adults.

References:

1. Lachman
RS. Skeletal dysplasia. In Slovis TL,
Adler BH, Bloom DA, et al. Caffey’s
pediatric diagnostic imaging. Philadelphia: Elsevier, 2008: 2631-2635