Pitfalls in the Diagnosis of Primary Hyperparathyroidism in a Sudanese Adolescent Boy; a case disguised as rickets.

BACKGROUND: Juvenile primary hyperparathyroidism (PHPT) is a rare endocrine disease. Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets. CASE PRESENTATION: A 12-year-old Sudanese boy presented with progressive lower limbs deformity and difficulty in walking for six months. It was associated with fatigability, poor appetite, and generalized bone pain. On examination, he was thin, disproportionately short and pubertal, and had bilateral genu valgum deformity. X-rays showed osteopenia and signs of rickets. Biochemical workup revealed mildly elevated serum calcium, low phosphate, high alkaline phosphatase, and high parathyroid hormone with low 25-hydroxy vitamin D3. Celiac screening, liver function test and renal profile were normal. Serum calcium rose dramatically after vitamin D therapy. Genetic testing was negative for CYP2R1 and MEN1 genes. Ultrasound neck showed left inferior parathyroid adenoma which was surgically excised. Histopathology confirmed the diagnosis of parathyroid adenoma. Postoperatively, he had hypocalcemia which was treated with calcium and alfacalcidol. Corrective surgery is planned for the genu valgum deformity which markedly improved after parathyroidectomy. CONCLUSION: Although PHPT is extremely rare in the young population, it should be considered in patients with rickets and elevated serum calcium at baseline or after initiating vitamin D therapy.

The Use of Distraction Osteogenesis in the Treatment of Rickets-Associated Craniosynostosis.

BACKGROUND: Craniosynostosis has a known association with rickets. Because of abnormal bone development and a tendency for patients with rickets to present at an older age than most patients with craniosynostosis, repair may be complicated by inadequate cranial expansion and greater risk of sutural re-fusion. We present 2 cases of rickets-associated sagittal craniosynostosis and show the effectiveness of distraction osteogenesis in the surgical management of this condition. CASE DESCRIPTION: Two 3-year-old boys with rickets presented with sagittal synostosis and marked scaphocephalic deformity. Cranial osteotomies were performed followed by placement of 2 internal distractors. The devices were activated daily for 30 days to achieve a target transverse cranial distraction of 30 mm. A subsequent period of 10-12 weeks allowed for adequate bone consolidation. At the time of device removal, the final breadth of distraction and the quality of new bone formed was assessed. Distraction distance in both cases was verified intraoperatively to be 30 mm. Clinical examination confirmed that the distraction gaps were bridged by solid bone. The treatment protocol resulted in a significant improvement in cranial proportion in both patients, which was maintained at long-term follow-up. Estimated blood loss was high in both cases, presumably related to the hyperemic nature of rickets bone. CONCLUSIONS: Distraction osteogenesis promotes bone growth and cranial remodeling in patients with craniosynostosis caused by rickets. The technique allows for continuous incremental expansion of both bone and scalp tissue. We recommend consideration of distraction osteogenesis in the treatment of older children with severe deformity related to craniosynostosis, including those with rickets.

Description and evaluation of operative deformity correction in calcium-deficiency rickets in Kaduna, northern Nigeria.

PURPOSE: Rickets is a recurrent disease worldwide, especially in countries with limited resources (Nield et al Am Fam Physician 74(4):619-626, 2006; Thacher et al Ann Trop Paediatr 26(1):1-16, 2006). Medical therapy including orally administered calcium substitution is shown to improve a patients clinical symptoms and positively impact bone deformities, especially in the lower extremity. Even though orthopaedic intervention is necessary in a significant percentage of patients, few reports exist about operative deformity correction in patients wtih rickets. METHODS: We describe our concept of operative treatment by single-stage, three-dimensional closing-wedge osteotomies on 45 deformed legs in 27 patients from the rural area of Kaduna, North Nigeria, with calcium-deficiency rickets and evaluate the early results in a 1.5-year follow-up. RESULTS: We found a significant improvement in parameters of quality of life, functionality, clinical and radiological angulation and angles following the definition of Paley et al., with a complication rate of 4 % under 88 osteotomies (Paley et al Orthop Clin North Am 25(3):425-65, 1994). CONCLUSION: The described operative therapy shows to be sufficient and with satisfactory results in correcting rickets-related leg deformities under rural circumstances with low availability of medical resources.

[Updates on rickets and osteomalacia: surgical treatment for rickets/osteomalacia].

In general, surgical treatments are indicated for severe extremity deformities due to impaired bone growth and fractures due to bone fragility in rickets/osteomalacia patients. Corrective osteotomy and fixation with external fixators, Kirshner's wires, intramedullary nail, plates and casting including epiphysiodesis is performed. For tumor induced osteomalacia patients, excision of causative tumor is indispensable as definitive therapy. In this article, surgical treatments were updated especially for tumor induced osteomalacia.

[Locking plates for osteosyntheses of corrective osteotomies in paediatric orthopaedic and neuroorthopaedic patients]. / Winkelstabile Implantate zur Osteosynthese nach Korrekturosteotomien in der Kinder- und Neuroorthopädie.

BACKGROUND: Modern locking plates are widely used for the treatment of adult orthopaedic and trauma patients. Sporadic descriptions of their advantages now exist for paediatric trauma patients. Publications concerning their implantation in paediatric orthopaedic and neuroorthopaedic patients are still scarce even though it is well known that the compliance of children and adolescents is limited and that rapid mobilisation is essential for patients with disorders of neurological origin or bone metabolism to avoid developmental setbacks and perioperative fractures. PATIENTS AND METHODS: The principle of the locking plate system also described as internal fixateur is based on the thread bolting of the screwheads within the plate. This results in high initial stability and thus high initial loading capacity. Furthermore, it is possible to preserve soft tissue and periosteum which leads to less impaired biological bone healing. Between February 2008 and March 2010 locking plates were used for osteosynthesis in our department in 16 paediatric patients with 20 corrective osteotomies. All patients suffered from either neurological disorders or diseases with alteration of the bone metabolism. The outcome was analysed concerning safety, complications, practicability, mobilisation, consolidation of the osteotomy, loss of correction, as well as complications with the removal of the implants. RESULTS: Seven of the treated patients suffered from neurological disorders such as cerebral palsy or spina bifida, 9 patients had diseases with local or systemic alteration of their bone metabolism such as vitamin D deficiency and phosphate diabetes. The average age of the patients at the time of surgery was 11.18 (5-18) years. Implant-associated complications were not seen in this patient group, especially no implant failures. Mobilisation was achieved without cast treatment with at least partial weight-bearing within the first postoperative week in most cases. Loss of correction or problems with implant removal did not occur. 18 of the 20 osteotomy sites were completely healed at the 12 week follow-up. CONCLUSION: Locking plates are a safe and effective treatment device not only for adult trauma patients but also for the treatment of children and adolescents. When stabilisation of corrective osteotomies is performed with locking plates especially young patients benefit from this technique since mobilisation can be started earlier as compared to the use of non-angle stable plates or wires and cast immobilisation becomes unneccessary. The surgeon needs to know the range of products to pick the best implant regarding the growing skeleton's special anatomy. When choosing implants for patients with reduced bone density or impaired motor abilities as in cerebral palsy, spina bifida, and other systemic disorders, locking plates have to be taken into account to facilitate mobilisation and to avoid setbacks in motor development as well as pressure ulcers from casts. Clinical studies have to evaluate if early mobilisation combined with shorter inpatient treatment and less time and cost consuming postoperative physiotherapy or rehabilitation justify the use of the more expensive locking plates for the treatment of otherwise healthy patients.

Comparison of fixator-assisted nailing versus circular external fixator for bone realignment of lower extremity angular deformities in rickets disease.

PURPOSE: In rickets patients, limb deformities are usually multiapical and complex even with medical treatment; residual deformities remain necessitating surgical correction. In our study we aim to compare the results of correction of lower limb deformities, in rickets patients, treated with circular external fixator versus fixator-assisted intra-medullary nail. MATERIALS AND METHODS: Seventeen rickets patients, with 39 deformed lower extremity segments (femur and or tibia), underwent deformity correction procedures in our institution. Ten patients with 26 segments were treated using fixator-assisted nailing. Nine patients with 17 segments were treated using Ilizarov technique with circular frame. All patients were evaluated by long-standing true anteroposterior and lateral orthoroentgenograms of lower extremities preoperatively. Joint alignment, joint orientation, and apices of deformities were calculated and noted. The postoperative results of MAD, MPTA, LDFA, PPPTA and functional criteria were compared with preoperative values and assessments made in SPSS 13.0 for Windows by using McNemar, Pearson Chisquare, and Fisher exact statistical tests. RESULTS: Mean age for the fixator-assisted nailing (FAN) group patients at the time of surgery was 23.8 years (14-37 years). There were 16 femur and 10 tibiae operated on 6 female and 4 male patients. The mean follow up time is 42.6 months (6-71 months). In the Ilizarov group patients the mean age at the time of surgery was 16.7 years (13-22 years). There were 14 tibiae and 3 femur operated on 6 female and 3 male patients. The mean follow-up time was 19 months (6-48 months). Results were evaluated according to the Paley et al. classification of bone and functional results. According to those criteria we had 1 fair, 1 good, and 7 excellent bone results and 1 fair, 1 good, and 7 excellent functional results in the circular ring fixator group. In the FAN group we found 3 good and 7 excellent bone results; 1 fair, 2 good, and 7 excellent functional results. Nearly all patients complained of pain, limping, instability, and walking problems at their first preoperative visit. In both groups there was no union problem; in the FAN group, in one patient correction loss occurred and in another one screw loosening was encountered; in the Ilizarov group, 66% of patients had pin tract infections and one premature fibula consolidation occurred. Statistical analysis revealed no significant difference between two groups in correction ratios.(pearson chi square p = 0.332 for MAD; pearson chi square p = 0.477 for LDFA; Paley functional criteria fisher exact p = 0.684). CONCLUSION: The results indicated that fixator-assisted nailing carries deformity correction accuracy comparable with Ilizarov-type external fixators. FAN provides great patient comfort and the total treatment time is less. In patients with rickets, the retained IM nail can further provide protection against recurrence even if the metabolic pathology reoccurs.

La corrección quirúrgica de las deformidades angulares de los miembros inferiores en niños raquíticos congoleños / Lower extremities angular deformities correction in Congolese children with rickets

Objetivo: analizar la corrección de las desviaciones axiales de miembros inferiores, secuelas de raquitismo. Pacientes y metodología: Efectuamos una osteotomía percutánea e inmovilización con yeso y clavos incluidos o fijador externo monolateral, en 134 niños congoleses. Medimos los ángulos antes y después de la corrección, así como el tiempo de consolidación y las complicaciones durante el proceso. Resultados: los valgos femorales y los varos tibiales se corrigieron con mayor facilidad. La calidad de la corrección dependía del número de osteotomías realizadas en cada caso aunque se efectuaron más osteotomías en los casos más graves. Los resultados fueron 80 casos buenos, 45 regulares y sólo 3 defectuosos. No se constató ningún síndrome compartimental y sólo se señalaron algunas infecciones ligeras de los clavos. Conclusión: en nuestro medio las osteotomías percutáneas inmovilizadas con yeso o con fijador externo pueden resolver casos graves con un buen resultado funcional (AU)

Objective: To analyse the correction of axial deviations of the lower extremities as sequels of rickets. Patients and methods: We performed a percutaneous osteotomy and immobilization with cast and embedded nails or monolateral external fixator in 134 Congolese children. We measured the angles before and after the correction as well as the consolidation time and complications during the process. Results: Femoral valgus and tibial varus were corrected more easily. The quality of the correction depended on the number of osteotomies performed in each case, though more osteotomies were performed in the most severe cases. The results were 80 satisfactory cases, 45 fair, and only 3 defective. No compartmental syndrome was recorded and only some mild nail infections were seen. Conclusion: In our setting percutaneous osteotomies immobilised with cast or external fixator can solve severe cases, obtaining a good functional outcome (AU)

[A new case of systemic contact eczema to nickel in a peripheral venous catheter]. / Eczéma de contact systémique au nickel d'un cathéter périphérique : un nouveau cas.

BACKGROUND: Nickel-elicited systemic contact dermatitis is a rare event seen in previously skin sensitized patients. We report a case of systemic contact dermatitis due to nickel released into the bloodstream from a metal section of a catheter during infusion. CASE REPORT: A 39-year-old woman presented papular and vesicular flexural dermatitis and pompholyx 72h after cervical spine surgery. She received numerous treatments during the perioperative period. A challenge test with one of the suspected treatments, cefazolin, was performed by intravenous infusion over a six-hour period using the same Optiva) peripheral catheter (Johnson & Johnson, USA). Six hours after withdrawal of the catheter, an eruption occurred. A further cefazolin challenge test performed later under identical conditions but using a different type of catheter (nickel-free) was negative. Nickel-elicited systemic contact dermatitis due to nickel release from a catheter was diagnosed. The patient's medical history was notable for contact dermatitis with jewellery. Patch tests confirmed marked nickel sensitization. DISCUSSION: A little-known way of systemic nickel absorption is through insertion of a venous catheter with a metal section containing nickel and a metallic eyelet containing nickel can in fact remain in place after catheter placement. Nickel can thus be released into the circulation during infusion and an eruption may occur during the postoperative period. This diagnosis is noteworthy as such eruptions can easily be mistakenly diagnosed as cutaneous drug eruptions.

Guided growth for pathological physes: radiographic improvement during realignment.

BACKGROUND: Children with rickets are prone to having deformities of the lower extremities that are bilateral and often symmetrical. Although initially attributed to pathological or "sick" physes, the deformities are eventually seen in the metaphyses and diaphyses of the long bones; if left untreated, they may result in bone pain and stress fractures. The orthopaedists' role in managing these children is to correct and maintain alignment. Alternatively, we have exploited the use of hemiepiphysiodesis or guided growth, using staples or, more recently, the 8-plate (Orthofix, Verona, Italy). While gradually normalizing the mechanical axis, we have noted improvement in the appearance and width of all of the ipsilateral physes, not only at the knee but at the hip and ankle as well. This report summarizes our observations of the effects on the pathological physes in a group of patients with rickets who were preferentially treated with guided growth, often starting at a young age. METHOD: This retrospective review approved by an institutional review board included 14 children with rickets, including 10 treated with staples and 4 with 8-plates, who collectively underwent a total of 68 hemiepiphysiodeses (guided growth) and 35 osteotomies. Each was under appropriate medical management during the entire course of treatment, before and after surgery. We measured the mechanical axis deviation and anatomic angles of the femur and proximal tibia, noting the width and appearance of their physes at the hips, knees, and ankles preoperatively and upon correction of the axis. RESULTS: Of the 10 stapled patients, we noted 24 (45%) of 53 migrations and 41% rebound deformity. Four patients with 15 deformities that corrected with 8-plates experienced no hardware migration; for them, it is too early to comment on rebound deformity. While gradually correcting the mechanical axis, we have noted improvement in the appearance and width, not only of the pan-genu physes but also of remote physes at the hip and ankle. We suspect that the improved quality of the physes reflects not only the normalization of the mechanical axis but also the corresponding resolution of the waddling (varus) or circumduction (valgus) gait pattern. CONCLUSION: We recommend early intervention, via guided growth, to restore and preserve a neutral axis so that the child can enjoy a normal lifestyle while maximizing the growth potential of his or her physes, not only of the knees but the hips and ankles as well. We believe that by correcting and maintaining alignment, secondary bony deformities may be ameliorated and osteotomies for angular correction deferred if not avoided altogether. LEVEL OF EVIDENCE: IV (retrospective clinical series).

Treatment of angular deformities of the tibia in children: acute versus gradual correction.

This is a retrospective review of 25 tibial osteotomies (in 19 patients) performed with either acute or gradual correction to determine the outcome of treatment and incidence of neurovascular complications. Patients undergoing gradual correction had fewer neurovascular complications and greater correction than those undergoing acute correction (27 degrees vs. 18 degrees, respectively). It was concluded that gradual correction tends to be a safer technique for the treatment of tibial deformities and allows greater correction.

[Medical and surgical therapy of familial hypophosphatemic vitamin D resistant rickets with ambulation disorders]. / Trattamento medico e chirurgico del rachitismo ipofosfatemico familiare vitamino-D resistente con disturbi della deambulazione.

Three children with familial hypophosphatemic rickets showed, in the untreated state, active rickets of the metaphyseal areas of long bones. All were treated with combined phosphate /1-2 g daily by mouth in 4-5 divided doses) and vitamin D2 therapy for 2-5 years. The radiological appearance of the metaphyses became practically normal in two, whereas little change took place in the endosteal bone surface. Bone biopsies demonstrated osteomalacia. Therefore, two subjects were given phospate (1-2 g daily) and 1-alpha-hydroxyvitamin D (0.25-0.50 microgram daily) for 2 years; then phosphate (1 g daily) and 1.25 dihydroxyvitamin D (0.25-0.50 microgram daily) combined therapy for 5 years; the third patient had phosphate (1 g daily) and 1.25 dihydroxyvitamin D (0.25 microgram daily) combined therapy for 2 years. After therapy with low doses of 1.25 dihydroxyvitamin D, X-rays showed a nearly normal bone aspect, without nephrocalcinosis in all patients. All subjects were submitted to osteothomies with positive results.

The orthopaedic management of hypophosphataemic rickets.

The orthopaedic management of 19 patients with hypophosphataemic rickets was reviewed. Three groups of patients could be identified: teenagers or young adults without knee problems, those with knee problems, and adults or elderly patients with stiff joints due to mineralisation of ligaments. Osteotomies were best staged. Diaphyseal osteotomies were performed at all ages with stabilisation over an intramedullary nail; metaphyseal osteotomies were most successful at or close to maturity. Early degeneration of the knees with shedding of the articular cartilage was seen in young adults, and osteochondritis-like lesions were seen in some teenagers. Stiffness and bone pain were a feature in elderly patients.

Surgically curable hypophosphatemic rickets. Diagnosis and management.

Childhood hypophosphatemic rickets (HR) is most often caused by a defect in renal tubular resorption of filtered phosphorus. However, HR can also be caused by secretion of a phosphaturetic factor from a tumor. The presentation of patients with the different HR syndromes may be identical. Distinguishing between the HR syndromes is essential, however, because HR caused by renal defect requires life-long therapy with Vitamin D and phosphate replacement, but tumor-associated HR is cured by removal of the tumor. A case of hemangiopericytoma occurring in bone and causing HR is reported. Children with HR typically have normal levels of serum calcium and parathyroid hormone but very low levels of serum phosphorus. In a child with HR, the following features should prompt a thorough evaluation for a causative tumor: lack of other family members who have hypophosphatemia; presence of aminoaciduria, particularly glycinuria. Causative lesions are most commonly found in the bone or skin.

Hypophosphatemic rickets in an adolescent cured by excision of a nonossifying fibroma.

An adolescent girl complaining of chronic heel pain was found to have acquired hypophosphatemic rickets and a nonossifying fibroma of the femur. The hypophosphatemic rickets was completely corrected by surgical excision of the bone lesion. This case represents another example of tumor-induced osteomalacia.

Treatment of hypophosphataemic vitamin D-resistant rickets and adult presenting hypophosphataemic vitamin D-resistant osteomalacia.

The results of the treatment of 12 patients with hypophosphataemic vitamin D-resistant rickets, 4 similar patients who were first diagnosed in adulthood, and 2 adult patients with hypophosphataemic vitamin D-resistant osteomalacia are presented. Treatment with a high dosage of Vitamin D2 was begun between 1 1/2 and 7 years of age. The dose of Vitamin D2 required for the treatment of rickets varied widely depending on the severity of the process and the age of the patient. Four patients with leg deformities required osteotomy or other operations. In other patients deformities improved with medical treatment alone. Dwarfism and severe deformity of the legs were characteristic features in rickets first diagnosed in adulthood. Radiographic features were Looser's zones, a coarse trabecular pattern, increased bone density and ligamentous calcification. These patients presented several difficult orthopaedic problems. Two brothers with hypophosphataemic vitamin D-resistant osteomalacia presented with bone pains, muscle weakness, limitation of motion in the back and height loss. Treatment with oral phosphate supplements in addition to high doses of Vitamin D2 was dramatic, with complete disappearance of muscle weakness and bone pain.

Hypercalcemic hyperparathyroidism in hypophosphatemic rickets.

A 25-year-old white woman with sporadic hypophosphatemic rickets presented with a 7 year history of chronic mild hypercalcemia, osteitis fibrosa cystic and hypercalcemic nephropathy. Serum immunoreactive parathyroid hormone was elevated by greater than 100-fold and a 3.5 g parathyroid tumor was found at operation. Survey of the literature reveals that of 9 previous cases in which hypercalcemic hyperparathyroidism occurred in association with hypophosphatemic rickets, only two had classical x-linked familial hypophosphatemic rickets. It appears more than likely that this unusual combination of skeletal diseases represents the chance occurrence of primary hyperparathyroidism in patients with underlying x-linked familial hypophosphatemic rickets rather than a complication of phosphate therapy.