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Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Hinrichs T, Superti-Furga A, Scheiderer WD, Bonafé L, Brenner RE, Mattes T - BMC Musculoskelet Disord (2010)

Bottom Line: In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state.Carrier status was confirmed in the DNA of the patient's parents.Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Sports Medicine and Sports Nutrition, University of Bochum, Bochum, Germany.

ABSTRACT

Background: Multiple epiphyseal dysplasia (MED) is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms.

Case presentation: We report on a 27-year-old male patient suffering from clinical symptoms of autosomal recessive MED with habitual dislocation of a multilayered patella on both sides, on the surgical treatment and on short-term clinical outcome. Clinical findings were: bilateral hip and knee pain, instability of femorotibial and patellofemoral joints with habitual patella dislocation on both sides, contractures of hip, elbow and second metacarpophalangeal joints. Main radiographic findings were: bilateral dislocated multilayered patella, dysplastic medial tibial plateaus, deformity of both femoral heads and osteoarthritis of the hip joints, and deformity of both radial heads. In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state. Carrier status was confirmed in the DNA of the patient's parents. The mutation could be considered to be the reason for the patient's disease. Surgical treatment of habitual patella dislocation with medialisation of the tibial tuberosity led to an excellent clinical outcome.

Conclusions: The knowledge of different phenotypes of skeletal dysplasias helps to select genes for genetic analysis. Compared to other DTDST mutations, this is a rather mild phenotype. Molecular diagnosis is important for genetic counselling and for an accurate prognosis. Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

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Preoperative x-ray (skyline view (60° flexion)) of both knees demonstrating subluxation of both patellae.
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Figure 5: Preoperative x-ray (skyline view (60° flexion)) of both knees demonstrating subluxation of both patellae.

Mentions: Indication for surgery was ongoing recurrent pain and swelling, as well as giving way, with limitation in daily activities without improvement due to conservative treatment. Chronic patella dislocation was treated surgically by medialisation ot the tibial tuberosity in the "Blauth technique" [20] in combination with medial capsular lamination according to Insall et al. [21] starting with the more symptomatic left side. The opposite side was treated one year later. On the left knee with previous surgery a release in the lateral scar was additionally necessary. Patellar cartilage showed minimal degeneration, grade 1-2 according to Outerbridge and Dunlop [22] on both sides. Cartilage in the dysplastic femoral trochlea was macroscopically in normal condition. Medialisation was adjusted intraoperatively until flexion without dislocation was possible to 90°. The osseous chip was shifted about 1 to 1.5 cm medially, placed in a prepared bony groove and fixed with two bi-cortical screws (Figure 5). Flexion at the end of surgery was possible in both knees up to 120°. No additional treatment of the multilayered patella was performed.


Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.

Hinrichs T, Superti-Furga A, Scheiderer WD, Bonafé L, Brenner RE, Mattes T - BMC Musculoskelet Disord (2010)

Preoperative x-ray (skyline view (60° flexion)) of both knees demonstrating subluxation of both patellae.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2902411&req=5

Figure 5: Preoperative x-ray (skyline view (60° flexion)) of both knees demonstrating subluxation of both patellae.
Mentions: Indication for surgery was ongoing recurrent pain and swelling, as well as giving way, with limitation in daily activities without improvement due to conservative treatment. Chronic patella dislocation was treated surgically by medialisation ot the tibial tuberosity in the "Blauth technique" [20] in combination with medial capsular lamination according to Insall et al. [21] starting with the more symptomatic left side. The opposite side was treated one year later. On the left knee with previous surgery a release in the lateral scar was additionally necessary. Patellar cartilage showed minimal degeneration, grade 1-2 according to Outerbridge and Dunlop [22] on both sides. Cartilage in the dysplastic femoral trochlea was macroscopically in normal condition. Medialisation was adjusted intraoperatively until flexion without dislocation was possible to 90°. The osseous chip was shifted about 1 to 1.5 cm medially, placed in a prepared bony groove and fixed with two bi-cortical screws (Figure 5). Flexion at the end of surgery was possible in both knees up to 120°. No additional treatment of the multilayered patella was performed.

Bottom Line: In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state.Carrier status was confirmed in the DNA of the patient's parents.Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Sports Medicine and Sports Nutrition, University of Bochum, Bochum, Germany.

ABSTRACT

Background: Multiple epiphyseal dysplasia (MED) is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms.

Case presentation: We report on a 27-year-old male patient suffering from clinical symptoms of autosomal recessive MED with habitual dislocation of a multilayered patella on both sides, on the surgical treatment and on short-term clinical outcome. Clinical findings were: bilateral hip and knee pain, instability of femorotibial and patellofemoral joints with habitual patella dislocation on both sides, contractures of hip, elbow and second metacarpophalangeal joints. Main radiographic findings were: bilateral dislocated multilayered patella, dysplastic medial tibial plateaus, deformity of both femoral heads and osteoarthritis of the hip joints, and deformity of both radial heads. In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S) was found at the homozygote state. Carrier status was confirmed in the DNA of the patient's parents. The mutation could be considered to be the reason for the patient's disease. Surgical treatment of habitual patella dislocation with medialisation of the tibial tuberosity led to an excellent clinical outcome.

Conclusions: The knowledge of different phenotypes of skeletal dysplasias helps to select genes for genetic analysis. Compared to other DTDST mutations, this is a rather mild phenotype. Molecular diagnosis is important for genetic counselling and for an accurate prognosis. Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

Show MeSH
Related in: MedlinePlus