Multiple Epiphyseal Dysplasia (earlier synonyms: Fairbank's Disease, Ribbing's disease, Epiphyseal dysostosis, Hereditary enchondral dysostosis)

Heather Wichman

Loyola

Dr. Norman

Children's

Abstract

5 year old boy struck by car presenting with leg pain and knee abrasions.

Keywords

epiphyseal abnormalities, femoral epiphysis, delayed growth of epiphysis, epiphysis hypoplasia, 1571, MEN, multiple epiphyseal dysplasia, Fairbanks disease


Publication Date: 2009-11-19

History

5 year old boy struck by car presenting with leg pain and knee abrasions.

Findings

Bilateral sclerotic, irregular, fragmented, hypoplastic femoral epiphyses. Irregular, fragmented, and hypoplastic patella.

Delayed bone age of the hand.

Diagnosis

Multiple Epiphyseal Dysplasia (earlier synonyms: Fairbank's Disease, Ribbing's disease, Epiphyseal dysostosis, Hereditary enchondral dysostosis)

DDx

Differential Diagnosis of epiphyseal abnormalities:

Mucopolysaccharidoses: epiphyseal fragmentation, metaphyseal flairing, platyspondyly bullet shaped metacarpals. Only epiphyseal fragmentation is seen in MED comparatively.

Meyer’s Dysplasia: Epiphyseal abnormalities involve the hips and resolution by age 6 usually seen.

Spondyloepiphyseal Dysplasia: includes platyspondyly, oral, ocular abnormalities not seen in MED.

Perthes: only hips and most often unilateral, if bilateral appearance of irregularity is not symmetric.

Hypothyroidism: includes wormian bones and osteoporosis.

Pseudoachondroplasia: includes abnormalities of the spine and metaphyses.

Discussion

Multiple Epiphyseal Dysplasia is a congenital chondrodysplasia secondary to aberrant endochondral ossification first described by Fairbanks in 1937. The epiphyseal cartilage of tubular bones are abnormally hypoplastic and irregular. Clinical manifestation leading to diagnosis occurs most often in early childhood or adolescence.

Inheritance can be autosomal recessive or dominant; the dominant form is the most common. The incidence of dominant multiple epiphyseal dysplasia is estimated to be at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal dysplasia is unknown. There are two main forms of the AD type of MED: Type I is caused by defective coding for cartilage oligomeric matrix protein. This is the more severe form with shorter stature and greater involvement of hands and feet. Type II is caused by defective coding for α 2 polypeptide chain in Type IX collagen. Recessive type results from mutation of diastrophic dysplasia sulfate transporter gene. The recessive type is associated with club foot, hand and foot involvement, scoliosis, cleft palate. A double layer patella is highly diagnostic of AR MED.

Clinical presentation:

Clinical presentation varies with age. Early childhood can include waddling gait, fatigue with long walks, difficulty climbing stairs or running. Stature may be normal or short. In older children and adolescence there is an increased incidence of slipped femoral capital epiphysis. Early osteoarthritis presents with joint pain most prominent in the knees and hips. Deformities such as coxa vara and genu vara/valgum can be seen.

Radiographic presentation:

Bilateral and symmetrical delay of long bone epiphyseal growth centers, most severe in lower extremities. Epiphyseal hypoplasia, flattening, irregularity, and fragmentation is seen in childhood. Premature osteoarthritis most severely involving the hips and knees is characteristic in adolescence or early adulthood.

References

  1. Goldman AB. Heritable Diseases of Connective Tissue. In Resnick ed. Diagnosis of Bone and Joint Disorders, 4th ed. Philadelphia: Saunders. 2002:4382-4448.
  2. Hooshang T. Lachman, S. Radioloty of syndromes, metabolic disorders, and skeletal dysplasias. 4th ed 1996 Mosby St. Louis pg 311
  3. Liora Harel, MD et.al. Meyer Dysplasia in the Differential Diagnosis of Hip Disease in Young Children. Arch Pediatr Adolesc Med. 1999;153:942-945.
  4. Rubenstein J. Fracture of Double Layered Patella in Multiple Epiphyseal Dysplasia. June 2006 Radiology: 239, 911-913.
  5. Virginia Commonwealth University Pediatric Radiology Case of the Week. WWW.pedsradiology.com

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