CACP: eine seltene Differenzialdiagnose der juvenilen idiopathischen Arthritis

ZusammenfassungDas Kampodaktylie-Arthropathie-Coxa-vara-Perikarditis (CACP) -Syndrom ist eine seltene, autosomal-rezessive Erkrankung, die auf Mutationen im Proteoglycan-4-Gen zurückzuführen ist (OMIM #208250). Im Krankheitsverlauf steht eine progrediente, nicht inflammatorische Arthropathie im Vordergrund, wobei manche Patienten eine kardiale Beteiligung entwickeln. Berichtet wird über einen 3½-jährigen Jungen und ein 6-jähriges Mädchen, die unter der Diagnose einer therapieresistenten Rheumafaktor-negativen Polyarthritis mit intensiver antirheumatischer Behandlung erstmals im Deutschen Zentrum für Kinder- und Jugendrheumatologie vorgestellt wurden. Beide Patienten wiesen typische klinische Symptome eines CACP auf. Anhand anamnestischer Hinweise und einzelner diagnostischer Schritte konnte diese seltene Erkrankung zunächst eingegrenzt und in einem weiteren Schritt durch eine genetische Diagnostik bei beiden Kindern belegt werden.

Cemented Bipolar Hemiarthroplasty for Fracture

Ashley Cooper recognized fractures in the proximal femur distal to the insertion of capsule. He noted that they invariably united without difficulty often with external rotation and shortening leading to coxa vara. Till the 1940s the standard treatment was reduction of the fracture and immobilization in plaster spica or in traction. The long period of immobility required for this treatment carried considerable morbidity, particularly in elderly patients. In addition to problems of prolonged bed rest, reports about various management strategies were not satisfactory. The justification for early rehabilitation in this group was accurately summed up by this quotation by Evans. '' The very old patients who sustain this injury tolerate pain and immobility badly; their mental state is often precarious and is quick to develop bed sores or pulmonary complications. We believe that they should be treated as surgical emergency and the older and more feebler the patient the more urgent is the need for the operation" The aim of this prospective and retrospective study is to analyse the short term follow up results of cemented bipolar hemi arthroplasty in neck of femur fracture and unstable intetrochanteric fractures of the elderly done in our institution.

P095 Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome: a case report

Background Camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome is a rare genetic disorder with autosomal recessive transmission including camptodactyly, synovial hyperplasia-related arthropathy, progressive coxa vara deformity and non-inflammatory pericarditis. We report the observation of a case. Observation S.Y aged 8.5 years, from a consanguineous marriage, presented with a chronic arthropathy affecting wrists, knees and ankles that had been evolving for 6 years and currently, elbows are also affected. The history includes surgery for claw deformity of the hands at the age of 3. No similar cases in the family. Osteoarticular examination showed symmetrical swelling of the elbows, wrists (Fig. 1),knees (Fig. 2) and ankles (Fig. 3.The affected joints were neither red, painful nor warm on palpation, with normal mobility. The onset of symptoms could not be determined due to the indolence of the condition and the rest of the clinical examination was unremarkable. Discussion CACP syndrome is a more common condition in the Middle East and North Africa, with about 20 cases reported worldwide. This syndrome is still poorly understood and is often confused with juvenile idiopathic arthritis. It should be suspected in the presence of any congenital claw deformity of the hands (camptodactyly) with a chronic non-inflammatory arthropathy, which are constant signs. Coxa-vara and pericarditis (found respectively in 60 and 30% of cases) should be systematically sought. The consanguinity reported in the literature is also present in our case. However, there are no similar cases in siblings. The diagnosis is important, thus avoiding the initiation of unnecessary treatments such as corticosteroids, DMARDs or biotherapy. Biology no inflammatory syndrome, FAN negatives. Standard X-ray of the pelvis presence of a coxa-vara on the right Joint ultrasound common tenosynovitis of the extensors of the fingers, effusion with synovial hypertrophy without a Doppler catch of the elbows, knees and ankles Myelogram without abnormality. Cardiac ultrasound without pericarditis. The diagnosis of CACP was made in view of: a history of camptodactyly, chronic non-inflammatory arthropathy and coxa-vara. Analgesic treatment was instituted in case of pain, with cardiac monitoring by ultrasound every 6 months. Conclusion CACP syndrome is a rare disease often confused with juvenile idiopathic arthritis. Congenital camptodactyly and non-inflammatory arthropathy are very evocative of the diagnosis. The absence of similar cases in siblings makes our observation special.

Gamma 3 Long Nail for Complex Sub-Trochanteric Fractures: A Ten-Year Retrospective Study

Cephalomedullary nailing is considered the treatment of choice for trochanteric and subtrochanteric femoral fractures. The aim of this study was to report postoperative outcomes of one of the widely used trochanteric nail device, the Gamma 3 long nail. We retrospectively assessed 405 patients treated with Gamma 3 long nail in a single Level One Trauma Centre between 2010 and 2018. We finally included 261 ambulant patients with 65 years or older, a lowenergy trauma and a closed trochanteric or subtrochanteric femoral fracture. Clinical outcomes were evaluated using the Hip Fracture Functional Recovery Score (FRS), while radiological complications and failures were assessed on postoperative x-rays. More than two-thirds of patients had completed fracture consolidation within 4 months after surgery. Immediate full weight bearing was allowed postoperatively in 64.0% of patients. We reported a mortality of 24.5% at one year postoperatively. The leading clinical postoperative complication was anemia (69.3%), followed by deep venous thrombosis (7.7%). Coxa vara was observed in 73 patients (28%), followed by malreduction in flexion-external rotation of the proximal femoral fragment (26.8%). No case of lag screw cutout was reported. Our study indicated that last generation of Long Gamma nail is a reliable implant for trochanteric and subtrochanteric femoral fractures in the elderly patients, leading to high rate of bone union and reduced incidence of related complications. An excellent fracture reduction and prevention of postoperative varus malalignment are the main factors that can avoid the major postoperative complications and failures after Gamma 3 long nailing.

Single-stage surgical correction of a bilateral acquired coxa vara deformity in a young woman

A 23-year-old female-treated patient of osteomalacia and secondary hyperparathyroidism with hypophosphatemia presented with a 5-year history of bilateral groin pain and stiffness of both hips and difficulty in walking. Plain radiographs of the pelvis showed bilateral coxa vara deformity. She was managed surgically by a single-stage bilateral subtrochanteric corrective osteotomy with the internal fixation. After the osteotomy healing at 3 months, the patient was pain free and walked comfortably with an increased range of hip motion.

“Lessons from Rare Forms of Osteoarthritis”

Osteoarthritis (OA) is one of the most prevalent conditions in the world, particularly in the developed world with a significant increase in cases and their predicted impact as we move through the twenty-first century and this will be exacerbated by the covid pandemic. The degeneration of cartilage and bone as part of this condition is becoming better understood but there are still significant challenges in painting a complete picture to recognise all aspects of the condition and what treatment(s) are most appropriate in individual causes. OA encompasses many different types and this causes some of the challenges in fully understanding the condition. There have been examples through history where much has been learnt about common disease(s) from the study of rare or extreme phenotypes, particularly where Mendelian disorders are involved. The often early onset of symptoms combined with the rapid and aggressive pathogenesis of these diseases and their predictable outcomes give an often-under-explored resource. It is these “rarer forms of disease” that William Harvey referred to that offer novel insights into more common conditions through their more extreme presentations. In the case of OA, GWAS analyses demonstrate the multiple genes that are implicated in OA in the general population. In some of these rarer forms, single defective genes are responsible. The extreme phenotypes seen in conditions such as Camptodactyly Arthropathy-Coxa Vara-pericarditis Syndrome, Chondrodysplasias and Alkaptonuria all present potential opportunities for greater understanding of disease pathogenesis, novel therapeutic interventions and diagnostic imaging. This review examines some of the rarer presenting forms of OA and linked conditions, some of the novel discoveries made whilst studying them, and findings on imaging and treatment strategies.

Klippel–Trénaunay Syndrome and Developmental Coxa Vara in the Same Limb: A Case Report with a Review of the Literature

We present a case of a 14-year-old girl who was first treated when she was 4 years old. She had progressive limping of the left lower limb from the age of 3 years. She was diagnosed to have developmental coxa vara of the left hip and treated by a subtrochanteric valgus osteotomy of the left femur. Later, she developed hypertrophy of the left upper and lower limbs. There were port-wine stains over the left lower limbs with multiple superficial varicosities. Her diagnosis was Klippel–Trénaunay syndrome (KTS). She is asymptomatic at the final follow-up. Both developmental coxa vara and KTS are rare conditions. We present this case to demonstrate the rarest combination of two rare conditions occurring in the same limb.