ABSTRACT
Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO being more common leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of non-malignant TCIRG1-associated osteopetrosis have been reported. 24-year-old female patient came to us with limp gait, hip pain in both sides, and severe stiffness. She had suffered many fractures, bilateral hip osteoarthritis, right leg was 2 cm shorter compared with left leg. Whole Exome Sequencing was conducted, the result and subsequent Sanger's sequencing shown the patient had a compound heterozygous genotype at TCIRG1 (c.1194dup, p.Gly399ArgTer and c.334G>A, p.Gly112Arg), these two variants found were not previously reported. Sanger's sequencing revealed two other siblings whom suffer the same disorder had similar genotype to the proband; the parents were found to be heterozygous. This is the first case of TCIRG1-associated osteopetrosis reported in Vietnam and one of the few cases of nonmalignant TCIRG1-associated osteopetrosis, in which detailed clinical and genetic work-up were performed.
Subject(s)
Osteopetrosis , Vacuolar Proton-Translocating ATPases , Adult , Female , Humans , Mutation , Osteopetrosis/diagnosis , Osteopetrosis/genetics , Siblings , Vacuolar Proton-Translocating ATPases/genetics , Vietnam , Young AdultABSTRACT
BACKGROUND: "False patellar duplication" is a situation where there are two pieces in the position of a knee-joint like patella. It can derive from cartilage tumors, soft tissue tumors, or gout tumors, or due to the heterotopic ossification, forming a sub patella in the knee joint. CASE REPORT: A woman, 57 years old, healthy history, she has hospitalized for right knee joint pain since 2 years. Diagnosis: the synovial osteochondromatosis of the right knee. We decided to conduct and arthroscopy and removal. After 18 months surgery, the patient knee joint is currently good, range of motion (ROM) (-10)°- 0°-160°, Lysholm Knee Scoring Scale 85/100 point. CONCLUSION: This is the second case in the world and the first case in Vietnam. This is an experience in the process of diagnosis, arthroscopic treatment and differentiation from the "double patellae" status.
ABSTRACT
BACKGROUND: The femoral rotation angle is important element in total knee replacement (TKR). AIM: To measure this angle, we determine through the axes: the transepicondylar axis (cTEA and sTEA), the posterior condylar axis (PCA), the anteroposterior axis (APA - Whiteside axis). METHODS: Measuring the angles created by the four axes: cTEA, sTEA, PCA and APA in magnetic resonance imaging (MRI); determining the femoral rotation angle and application TKR. RESULTS: the angle between APA and cTEA: 90.41° ± 3.35°, the angle between APA and sTEA: 94.47° ± 3.31°, the angle between APA and PCA: 96.40° ± 4.59°, the angle between cTEA and sTEA: 4.00° ± 1.02°, the angle between cTEA and PCA: 6.53° ± 2.55°, the angle between sTEA and PCA: 3.48° ± 1.91°. CONCLUSION: The angle between sTEA and PCA is the angle that best represents the femoral rotation angle. However, in case of sTEA or PCA is difficult to identify, it can be measure via the APA or cTEA. These angles don't differ by age, gender and place of knee joint.
