Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5

Hypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, "bird-headed" facial features, and microcephaly with various structural brain abnormalities. Two siblings presented with short stature and small head circumference and were diagnosed with SCKL 5. The younger sister had HH with CPP and experienced a slipped capital femoral epiphysis during treatment. The 2 siblings had the same genetic variant but showed different phenotypes, which has not been reported previously; this study also as presents the first cases of SCKL5 diagnosed by genetic confirmation in Korea.

Midterm Results of Total Hip Arthroplasty Using the VerSys Fiber Metal Tapered Femoral Stem / 대한고관절학회지

PURPOSE: We evaluated the clinical and radiological results of patients who received the cementless VerSys fiber metal tapered stem for total hip arthroplasty. MATERIALS AND METHODS: Thirty seven hip joint replacements(31 patients) were evaluated over a minimum four year period following the procedure with an average follow-up period of 56 months(48-96 months). The mean patient age was 47.9 years old. Clinical results were analyzed using Harris hip scores, incidence of thigh pain and radiographic analysis was used to assess fixation of the stem, stress shielding, cortical hypertrophy and radiolucent lines around the femoral stem. RESULTS: The average Harris hip score was 90.7 points(82-99 points). Thigh pain was noticed in 6 hips(16%). Proximal femoral bone resorption by stress shielding was observed in 32 hips(86.5%). Cortical hypertrophy was noticed in 16 hips(43.2%) and was statistically correlated with stress shielding of 2nd degree or more according to the Engh classification. Stable bone ingrowth at the last follow-up was seen in 36 hips(97.2%). CONCLUSION: Cementless total hip arthroplasty using the cementless VerSys fiber metal tapered stem demonstrated excellent midterm clinical results as well as excellent radiologic results for stable fixation and endosteal new bone formtion. However, long term follow-up evaluation will be required because of the high rates of proximal bone resorption by stress shielding.