Surgical management of cervical spine deformity in chondrodysplasia punctata.

OBJECTIVE Chondrodysplasia punctata (CDP), a rare skeletal dysplasia, can lead to cervical spine instability and deformity. However, an optimal neurosurgical intervention has yet to be established. Thus, a retrospective study was conducted to assess the efficacy of various surgical interventions for children with CDP. METHODS The authors retrospectively reviewed 9 cases of CDP in which cervical decompression with or without posterior fusion was performed between April 2007 and May 2016. Patient demographics, preoperative clinical conditions, radiographic findings, surgical procedures, and the postoperative course were analyzed in detail. RESULTS A total of 12 operations were carried out in 9 patients (8 male, 1 female) during the study period. The patients' ages at the initial surgery ranged from 2 months to 2 years. Seven of the children had CDPX1, 1 had CDPX2, and 1 had tibia-metacarpal type CDP (CDP-TM). The lesion occurred at the craniovertebral junction (CVJ) in 7 cases and involved a subaxial deformity in 2 cases. The initial surgery was C-1 laminectomy with occipitocervical fusion (OCF) followed by halo external fixation in 5 cases, OCF alone in 1 case, and C-1 laminectomy alone in 3 cases. Three children required additional surgery. In one of these cases, a staged operation was required because the patient's head was too small to attach a halo ring at the time of the initial procedure (C-1 laminectomy). In another case, OCF was performed 11 months after C-1 laminectomy because of intramedullary signal change on serial MRI, although the child remained asymptomatic. In the third case, additional posterior fusion was performed 17 months after an initial laminectomy and OCF due to newly developed cervical dislocation caudal to the original fusion. This last patient required a third operation 9 months after the second because of deep wound infection. Surgery improved the motor function of all 7 children with CDPX1, but 3 children who had already suffered respiratory failure preoperatively required continued respiratory support. At the time of this report, 7 of the 9 children were alive and in stable condition. One child died due to restrictive respiratory insufficiency, and another died in an accident unrelated to CDP. CONCLUSIONS Surgical decompression with or without fusion for CVJ and subaxial cervical lesions in infants and toddlers with CDP generally saves lives and increases the likelihood of motor function recovery. However, in this case series the patients' preoperative condition had a strong effect on postoperative respiratory function. The surgery was not straightforward, and a second operation was required in some cases. Nevertheless, the findings indicate that early surgical intervention for CDP with cervical involvement is feasible, suggesting that the role of neurosurgery should be reevaluated.

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-Month-Old Toddler With Brachytelephalangic Chondrodysplasia Punctata: A Case Report.

STUDY DESIGN: Case report. OBJECTIVE: We report here on an 18-month-old boy with brachytelephalangic chondrodysplasia punctata (BCDP), whose atlantoaxial instability was successfully managed with occipitocervical instrumented fusion (OCF) using screw and rod instrumentations. SUMMARY OF BACKGROUND DATA: Recently, there have been a number of reports on BCDP with early onset of cervical myelopathy. Surgical OCF is a vital intervention to salvage affected individuals from the life-threatening morbidity. Despite recent advancement of instrumentation techniques, however, rigid OCF is technically demanding in very young children with small and fragile osseous elements. To our best knowledge, this is the first report on application of the instrumentation technique to a toddler patient with BCDP. METHODS: A 16-month-old boy with BCDP presented with tetraplegia and swallow obstacle. Hypoplasia of the odontoid process and atlantoaxial instability were present in lateral radiographs. T2-weighted magnetic resonance (MR) images revealed a high signal region in the spinal cord at the C1-2 and C7-T1 levels. Cervical computed tomography (CT) showed that the pedicles and lateral masses in the cervical spine were small and immature, but the laminae were comparatively thick. RESULTS: One week before surgery, the patient was fitted with a Halo-body jacket. We performed plate-rod placement with occipital cortical screws and C2/C3 interlaminar screws, and added an autogenous bone graft using the right 8 and 9 ribs. Rigid fixation of the occipito-cervical spine was completed successfully without major complications. Postoperative halo-body jacket immobilization was continued for 3 months, after which Aspen collar was fitted. CT confirmed occipitocervical bone fusion at 6 months after surgery. Mild clinical improvements in motor power of the affected muscles and swallowing were witnessed at 1 year postoperatively. CONCLUSION: Rigid fixation using screw, rod, and occipital plate instrumentation was successful in an 18-month-old toddler with BCDP and atlantoaxial instability. Bone fusion was achieved at postoperative 6 months. LEVEL OF EVIDENCE: 5.

Tympanoplasty for chondrodysplasia punctata: Case report.

Chondrodysplasia punctata (CP) is a systemic disorder of chondrogenesis. The most prominent features of patients with CP are abnormal faces characterized by a flat nose and short stature. CP patients show various types and levels of hearing loss. This disease is rare, and no successful tympanoplasties with hearing recovery have been reported. Here, we report on a CP case, in which hearing recovery was successfully treated with tympanoplasty.

Challenges of spine surgery in patients with chondrodysplasia punctata.

BACKGROUND: Chondrodysplasia punctata (CDP) is a common manifestation of an etiologically heterogenous group of disorders. There is very little data regarding the development and management of spinal deformity in patients with CDP. The purpose of this study was to present a multicenter series of CDP, to describe the surgical outcomes of spinal deformities in CDP patients and to emphasize important considerations that may influence choice of surgical treatment of spinal deformity in this patient population. METHODS: The medical records and spinal radiographs of patients with the diagnosis of CDP followed in 2 centers between 1975 and 2011 were retrospectively reviewed. Epiphyseal stippling was present on radiographs in all patients who fulfilled the clinical criteria. RESULTS: Among the 17 patients who were diagnosed with CDP, 13 had spinal deformities. The mean age at diagnosis of spinal deformity was 14.6 months (range, 1 wk to 9 y). Males and females were close to equally represented (10 males and 7 females). Twelve patients (92%) required surgery to correct spinal deformity. Patients were followed for a median of 8.4 years (range, 2.8 to 19.5 y). The total number of surgical procedures performed was 17 averaging 1.5 per patient. Four patients required >1 procedure. Eighty percent of the patients who required >1 surgical procedure were females with probable diagnosis of X-linked dominant CDP. Revision surgery was indicated in 50% of the patients treated with combined anterior and posterior fusion and 20% of the patients treated with posterior fusion alone. CONCLUSIONS: Spinal deformity in CPD patients may range from significant kyphoscoliosis to minimal deformity that does not require any treatment. For those patients in whom spine surgery was indicated, a high incidence of revision surgery and curve progression after fusion was recorded. Female patients with probable diagnosis of X-linked dominant CDP were more likely to require a second surgical procedure. Isolated posterior fusion showed less favorable results compared with combined anteroposterior fusion in terms of revision surgery. LEVEL OF EVIDENCE: Level IV-therapeutic study.

Progressive early-onset scoliosis in Conradi disease: a 34-year follow-up of surgical management.

BACKGROUND: Conradi-Hunermann syndrome (CHS) is a rare metabolic syndrome with several orthopaedic problems. Early-onset scoliosis is of great importance because of often rapidly progressive nature and high risk of postoperative complications. OBJECTIVES: To report the 34-year follow-up and outcome of a patient with CHS treated with combined anterior and posterior fusion without instrumentation. METHODS: All available clinical and radiographs of a female patient with CHS retrospectively reviewed. Overall health status, sagittal and coronal deformity, pulmonary function test, and outcome questionnaires were evaluated. RESULTS: Initial films at the age of 4 months showed a curve of 37 degrees from T6-T11 and a curve of 17 degrees from T11-L2. Thoracic kyphosis was measured at 43 degrees. Standing films at the age of 2 years and 2 months showed progression of both the curves to 50 and 66 degrees, respectively, and a significant spinal imbalance. The kyphosis also progressed to 57 degrees. She underwent a staged anterior inlay graft spinal fusion with autograft and allograft ribs from T8-L1 and posterior in situ fusion from T6-L1 with corticocancellous allograft. Solid radiographic fusion was observed 18 months after surgery. She was 36 years old at her latest follow-up, 34 years after surgery, with neutral clinical coronal and sagittal balance. No significant pain and respiratory complaint at moderate sports and normal daily life activity. "Vital capacity" and "total lung capacity" were 65% and 75%, respectively, of the normal. Thoracic curve of 35 degrees (T6-T11) and right thoracolumbar curve of 53 degrees from T11-L2 with a solid fusion fromT6-L1 with kyphosis measured over the fused area of 40 degrees were observed. Her overall mean Scoliosis Research Society-22 score was 3.68. She is an MBA graduate from a competitive school and currently works full-time. CONCLUSIONS: Although the treatment of early-onset scoliosis has significantly evolved over the past 3 decades, the traditional method of anterior release and fusion and staged in-situ posterior fusion posterior fusion with postoperative immobilization showed acceptable deformity correction and maintenance of the pulmonary function over the 34 years.

[Conradi-Hünermann Chondrodysplasia punctata: anaesthetic implications]. / Condrodisplasia punctata de Conradi-Hünermann: implicaciones anestésicas.

Chondrodysplasia punctata syndrome is a group of rare congenital diseases that give rise to malformations, mainly skeletal, linked to the premature calcification of structures. There is little in the literature in the field of Anaesthesiology on this despite there being some clinical manifestations, particularly the possibility of difficult airway, which may be of importance during the peri-operative period. During the first years of life, the patients affected are often subjected to repeated surgery to correct their malformations. We describe the anaesthetic treatment during orthopaedic surgery of a paediatric patient with Conradi-Hünermann type chondrodysplasia punctata, highlighting the managementof the airway using a laryngeal mask in combination with balanced general anaesthesia with remifentanil. We also present a review of the characteristics of the different entities of these syndromes, with special emphasis on the aspects most relevant to the anaesthesiologist.

Implicaciones anestésicas de la condrodisplasia punctata. A propósito de un caso / No disponible

No disponible

[Errors and complications in treatment of the Erlacher-Blount disease by the method of perosseous osteosynthesis].

The author has made an analysis of results of treatment of 116 patients. A classification of recurrences of the disease is given. Possible errors of the treatment and complications are described as well as the measures of their prevention.

A 13-month-old boy with progressive genu valgum.

The following case illustrates the roentgenographic and clinical findings of a condition of interest to the orthopedic surgeon. Initial history, physical findings, and roentgenographic examinations are indicated below. The final clinical and differential diagnoses are presented on the following pages.

The relationship of cloverleaf skull syndrome to hydrocephalus.

In 1960, Holtermüller and Wiedemann described chondrodystrophic hydrocephalus as Kleeblattschädel syndrome. In the present paper, we review 23 cases of this syndrome associated with hydrocephalus, including 2 cases of our own. Of these 23 cases, 8 involved communicating hydrocephalus and 15 non-communicating hydrocephalus. It has been speculated that the associated hydrocephalus results from basilar impression, compression of infratentorial structures, aqueductal stenosis in non-communicating hydrocephalus, and impairment of venous drainage and cerebral spinal fluid flow at the level of the constrictive cranial ring in communicating hydrocephalus. Our present cases also showed this cranial ring, as demonstrated by skull X-rays and computed tomography scans. Since cloverleaf skull syndrome often has other general anomalies, we consider the hydrocephalus in this syndrome to have causes associated with the osteocartilaginous system.

Nasal augmentation in chondrodysplasia punctata using tissue expansion.

Chondrodysplasia punctata is an uncommon group of congenital bone dysplasias. A common feature of this disease is a characteristic facial appearance including nasal hypoplasia. This paper describes the management of a case presenting with this disease in which soft tissue augmentation was achieved with tissue expansion of the nasal skin. Follow-up of more than 4 years demonstrates that a satisfactory result has been achieved, with no facial scars. The relevant literature is discussed.

[Epiphyseal closure correction in children. Apropos of 18 cases]. / La désépiphysiodèse chez l'enfant. A propos de 18 cas.

The authors have performed 18 operative procedures to remove bony bridges across the growth plate in children. The causes of the formation of the bone bridge were many, including 10 after injury and 3 after infection. There were 9 good results and 9 failures. The causes of the failures were the extent of the bone bridge, sepsis as the causative lesion and technical errors during operation. The best results were obtained in cases where the bridge was peripheral, was easily approached and followed injury in young children. Extensive bridges located centrally had a poor prognosis. All the post-infective cases were failures.

Variante monomélica da displasia epifisária hemimélica / Monomelic variant of dysplasia epiphysialis hemimelica

Os autores apresentam um paciente portador de Displasia Epifisária Hemimélica em sua variante monomélica comprometendo as epífises proximal e distal do fêmur e tíbia do membro inferior direito. A etiopatogenia, quadro clínico, radiológico e medidas terapêuticas säo enfatizadas e discutidas

Therapeutic problems in familial poly-epiphyseal dyschondroplasia.

The writers describe the clinical features of familial poly-epiphyseal dysplasia without spinal involvement affecting two sisters who both underwent surgical treatment with a view to restoring balance in load bearing joints. The satisfactory results are illustrated and "biological" osteotomy is advised in such cases, even if painful symptoms have not yet appeared.

A unique case of dysplasia epiphysealis hemimelica of the patella.

Dysplasia epiphysealis hemimelica of the patella seems not to have been previously reported. The condition appeared in a five-year-old boy and treatment was excision of the lesion.