Kazuyuki Takamura

Pemberton osteotomy for developmental dysplasia of the hip in older children.

The authors reviewed the results of the Pemberton osteotomy as treatment of developmental dysplasia of the hip in 17 hips treated after 7 years of age. Twelve hips required one or more concomitant surgical procedures. The average age at the time of the osteotomy was 9.3 years, and the average follow-up was 9.4 years. Using modified McKays clinical criteria, 14 hips were classified as excellent or good. Using Severins radiographic classification, 13 hips met class I-II criteria. Two patients who preoperatively showed Kalamchi and MacEwens group IV severe avascular necrosis, plus two patients whose necessary acetabular coverage was not achieved by the Pemberton osteotomy without femoral varus osteotomy, were found to meet Severins class III-IV criteria. Pemberton osteotomy can be an effective procedure for older children in whom progressive acetabular development is not expected, although this osteotomy may have to be combined with other operative procedures.

PAPSS2 mutations cause autosomal recessive brachyolmia

Background Brachyolmia is a heterogeneous group of skeletal dysplasias that primarily affects the spine. Clinical and genetic heterogeneity have been reported; at least three types of brachyolmia are known. TRPV4 mutations have been identified in an autosomal dominant form of brachyolmia; however, disease genes for autosomal recessive (AR) forms remain totally unknown. We conducted a study on a Turkish family with an AR brachyolmia, with the aim of identifying a disease gene for AR brachyolmia. Methods and results We examined three affected individuals of the family using exon capture followed by next generation sequencing and identified its disease gene, PAPSS2 (phosphoadenosine-phosphosulfate synthetase 2). The patients had a homozygous loss of function mutation, c.337_338insG (p.A113GfsX18). We further examined three patients with similar brachyolmia phenotypes (two Japanese and a Korean) and also identified loss of function mutations in PAPSS2; one patient was homozygous for IVS3+2delT, and the other two were compound heterozygotes for c.616-634del19 (p.V206SfsX9) and c.1309-1310delAG (p.R437GfsX19), and c.480_481insCGTA (p.K161RfsX6) and c.661delA (p.I221SfsX40), respectively. The six patients had short-trunk short stature that became conspicuous during childhood with normal intelligence and facies. Their radiographic features included rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, and mildly shortened metacarpals. Spinal changes were very similar among the six patients; however, epiphyseal and metaphyseal changes of the tubular bones were variable. Conclusions We identified PAPSS2 as the disease gene for an AR brachyolmia. PAPSS2 mutations have produced a skeletal dysplasia family, with a gradation of phenotypes ranging from brachyolmia to spondylo-epi-metaphyseal dysplasia.

Metatarsal lengthening by callus distraction for brachymetatarsia.

Twelve metatarsal lengthening procedures by callus distraction were performed in seven patients with brachymetatarsia. The mean age at the time of the surgery was 12.0 years (range, 11.1–14.5 years). The mean duration of follow-up was 5.2 years (range, 1.2–13.5 years). The bones were lengthened at a rate of 0.7 mm/day by a mean of 20 mm (range, 15–30 mm), which was 45% of their original length (range, 37–61%). The mean healing index was 73 days/cm (range, 41–98 days/cm). Corrective shortening osteotomy was performed in one case in which the metatarsophalangeal joint was dislocated due to excessive lengthening. In 10 of the remaining 11 cases, joint stiffness, narrowing of the joint space and some degree of plantar subluxation of the metatarsophalangeal joint were observed during distraction, but these were gradually resolved without either elongation of the tendon or metatarsophalangeal joint fixation with Kirschner wire.

Septic sacroiliitis in children.

We retrospectively reviewed the clinical, laboratory, and magnetic resonance (MR) imaging features of 8 patients with septic sacroiliitis. The age of the patients ranged from 4.3 to 15.2 years. None of the patients were accurately diagnosed before presentation. Misdiagnosis was largely caused by the wide variety of clinical symptoms including hip, back, knee, and abdominal pain, by low suspicion of the disease, and by negative radiographic findings. Magnetic resonance examination was performed in all patients and confirmed the diagnosis. All patients were treated with bed rest and intravenous antibiotics. Clinical and laboratory findings improved in all patients during antibiotic treatment, but MR findings showed a mixed response with resolution of effusions in the sacroiliac joint, muscular infiltration, and abscess formation, but progressive changes in signal intensity in the adjacent bone marrow of the sacrum and ilium. After treatment, the signal changes in the bone marrow persisted for 2 to 3 months.

Limb Salvage Treatment for Congenital Deficiency of the Tibia

Abstract: Nine limb salvage treatments were performed in 7 patients with congenital deficiency of the tibia. All feet showed equinovarus deformity and were centralized in a slightly equinus position by placing the distal end of the fibula into the posterior facet of the calcaneus. Tibiofibular fusion was performed in 4 patients with partial deficiency, and fibular transfer (fibular centralization; Brown procedure) in 5 with complete deficiency of the tibia. Callus distraction lengthening was performed repeatedly for leg-length discrepancy on either the femur or the centralized fibula. Satisfactory functional and cosmetic results were obtained in all limbs with partial deficiency, whereas in limbs with completely deficiency, none of the 5 knees treated by fibular transfer achieved a satisfactory functional result because of insufficient quadriceps strength, progressive knee flexion contracture, and persistent ligamentous instability. Nevertheless, in these 5 cases, all patients were ultimately able to withstand weight-bearing.

Sternal segment dislocation in children

Three cases of sternal segment dislocation in children are described. The primary mechanisms were direct blow in a 4-year-old boy, indirect forces in a 3-year-old boy, and osteomyelitis in a 10-year-old boy. The two former cases were dislocated at the junction of the manubrium with the sternal body, and the latter case was at the junction of the first and second sternal segments. The dislocated segments were gradually rotated for approximately 2 weeks and were finally stabilized after rotation. While in the dislocated state, the patients were observed conservatively, although all the dislocated segments were remodeled. Surgical treatment of sternal segment dislocation is not inevitable.

High prevalence of acetabular retroversion in both affected and unaffected hips after Legg-Calvé-Perthes disease

BackgroundAcetabular retroversion is observed in hips after various pediatric hip diseases. This study sought to examine the frequency of acetabular retroversion in both affected and unaffected hips after Legg-Calvé-Perthes disease and its correlation with the prominence of the ischial spine.MethodsWe retrospectively investigated the version and morphological features of the acetabulum using pelvic radiographs after Legg-Calvé-Perthes disease (107 affected hips treated non-operatively and 72 unaffected hips from the contralateral side). The diagnosis of acetabular retroversion was made based on the presence of a positive cross-over sign on anteroposterior pelvic radiographs. The correlation between the presence of a positive cross-over sign and modified Stulberg classes, the onset age of Legg-Calvé-Perthes disease, radiographic parameters for acetabular dysplasia and the prominence of the ischial spine were examined.ResultsThe prevalence of a positive cross-over sign was 49.5 % (45 of 91 hips) in affected hips and 45.8 % (33 of 72 hips) in unaffected hips. Hips with a positive cross-over sign were significantly coexistent bilaterally. The prevalence of prominence of the ischial spine in the positive cross-over sign group was 71.4 % in the affected side and 81.8 % in the unaffected side, indicating a significant correlation between the cross-over sign and the prominence of the ischial spine in both affected and unaffected hips. The positive cross-over sign did not have any correlation with the parameters for acetabular dysplasia and the onset age, however, had a significant correlation with the severity of the femoral head deformity.ConclusionsHigh prevalence of acetabular retroversion in both affected and unaffected hips after Legg-Calvé-Perthes disease was demonstrated. Symmetric acetabular deformity and the coexistence of prominence of the ischial spine suggested the effects of the Legg-Calvé-Perthes disease lesions on the skeletal development of the whole pelvis. Further follow-up is needed to clarify the pathological significance of acetabular retroversion after Legg-Calvé-Perthes disease.

Operative reconstruction of the severe sequelae of infantile septic arthritis of the hip.

We retrospectively reviewed the results of operative reconstruction of 21 hips in 21 patients with severe sequelae due to infantile septic arthritis of the hip. Eleven hips were classified as Choi type IIIA, 4 as type IIIB, 1 as type IVA, and 5 as type IVB sequelae. The average age at the time of the first surgery was 4.2 years, and the average follow-up period was 8.9 years. Successful results were obtained in 8 of the 11 type IIIA hips by means of a combination of open reduction, femoral varus osteotomy, and pelvic osteotomy. However, only 2 of the 4 type IIIB hips treated by femoral valgus osteotomy and/or bone grafting and 2 of the 6 types IVA and IVB hips treated by greater trochanter arthroplasty had successful results.

Partial physeal growth arrest treated by bridge resection and artificial dura substitute interposition.

We treated four cases of partial physeal growth arrest by resecting the bone bridge and interposing an expanded polytetrafluoroethylene membrane, which has minimal tissue response. We evaluated three cases with sufficiently long follow-up. No apparent recurrence of the bone bridge and no limb length discrepancy occurred in any of the cases. No remodeling after the operation occurred. In one case, which underwent this operation and corrective osteotomy of the proximal tibia, slight recurrence of the varus deformity occurred which was detected only by radiographs, and did not compromise the alignment of the leg. There were no complications.

Surgical treatment of hip dislocation in amyoplasia-type arthrogryposis.

We reviewed our clinical and radiographic results in the operative treatment of five unilateral and six bilateral hip dislocations in 11 patients with amyoplasia-type arthrogryposis. The mean age at surgery was 1.8 (range, 1.1–3.2) years. Femoral and/or pelvic osteotomies were combined with an open reduction. The mean follow-up period was 12.7 (range, 5.2–23.2) years. Nine patients were community walkers and two were household walkers. The range of motion and the St Clair hip score of the bilateral hips were not significantly different from those of the unilateral hips. Successful reduction increases the ambulation potential in both unilateral and bilateral hip dislocations.