[McCune-Albright syndrome: a case report and literature review]. / Syndrome de McCune-Albright : à propos d'un cas et revue de la littérature.

McCune-Albright syndrome is an inherited disease characterized by the association of fibrous dystrophy of bone, café-au-lait skin spots and precocious puberty revealing endocrine hyperactivity. Genetically, this disease is due to a mutation of the Gs protein responsible for activation of adenylate cyclase with excessive production of cAMP. The particular morphology of café-au-lait spots should suggest early diagnosis. Its treatment depends on the endocrinopathy from which the patient suffers and the extent of the fibrous dysplasia. Bisphosphonates have proven their effectiveness on bone pain and the limitation of fibrous dysplasia. Surgery retains its place in complicated forms. We report a rare case of McCune-Albright syndrome complicated by a femur fracture in a 12-year-old girl and we discuss the clinical and paraclinical characteristics of this pathological entity.

Congenital syndactyly: a retrospective study of 18 cases at the Department of Orthopaedic Surgery and Traumatology of the Habib Bourguiba University Hospital, Sfax, Tunisia.

Congenital syndactylies are frequent congenital malformations of the hand. They can be an isolated finding or they can be found in association with other polymalformative syndromes. Several surgical techniques used to treat them have been described in the literature. The most used is the dorsal commissural omega-flap technique. We here report a study of 18 patients with congenital syndactyly, with multiple involvement in several cases, whose data were collected at the Department of Orthopedics and Traumatology of Sfax (Tunisia). All patients were operated using the dorsal commissural omega-flap technique. We operated 42 commissures in 18 patients. The average age of patients was 7 years. Only 3 patients had syndromic forms. Six of these patients were operated in two stages. For scar quality, mean OSAS score was 11.47 (11.35 for simple types and 12 for complex types). All patients with complex types had long-term complications (100%). Six patients with simple types out of 14 had complications (42.85%). The management of congenital syndactylies is surgical. It is important to provide parents with accurate information on the essential role of follow-up appointments in order to avoid complications in the short and the long term.

A Review of Ewing Sarcoma Treatment: Is it Still a Subject of Debate?

BACKGROUND: The Ewing sarcoma (ES) represents 10 to 15% malignant bone tumors and 40 to 45% pediatric malignant bone tumors. The aim of this review is to clarify the therapeutic results and prognostic factors of this entity. METHODS: A systematic review of the literature was performed. Studies focused on the management of ES were considered for inclusion. RESULT: ES represents a model of multidisciplinary approach. The optimization of ES multimodality therapeutic strategies has resulted from the efforts of several national and international groups in Europe and North America and from cooperation between the pediatric and medical oncologists. The overall 5- year survival of Ewing localized tumors was 70% versus 30% in metastatic ES. CONCLUSION: The treatment of ES includes neoadjuvant and adjuvant chemotherapies with surgery and/or radiotherapy for control of the primary site and possible metastatic disease. The role of high-dose chemotherapy is still debated.

Fibrodysplasia ossificans progressiva: diagnosis and surgical management.

Fibrodysplasia (or Myositis) Ossificans Progressiva (FOP) is a rare genetic disease with variable expression, characterized by the association of congenital anomalies of the toes and fingers and progressive appearance of ectopic bone within the skeletal muscles, often following a trauma or an infection. FOP initially affects the nape and thoracic paravertebral muscles. With age, there is a progression of ossifications to other muscular groups following a proximodistal and cranio-caudal extension. Patients develop a restrictive respiratory insufficiency with atelectasis. The diagnosis of FOP is clinical and does not require biopsy. Circumscribed post-traumatic ossifying myositis is the most important differential diagnosis. It is characterized by the appearance of painful ossifications, in young adults, following a trauma and is limited to one localisation. The conservative treatment of FOP remains unsatisfactory. Surgical removal of osteomas to restore joint mobility leads to the development of additional heterotopic ossifications. Each surgical attempt brings about a quasi-inevitable recurrence. Anaesthesia of patients with FOP is difficult because of spinal rigidity and ankylosis of the jaw. Surgery is indicated only with a focused indication to correct an invalidating deformity.

[Orthopaedic manifestations of Von Recklinghausen's neurofibromatosis]. / Manifestations orthopédiques de la neurofibromatose de Von Recklinghausen.

OBJECTIVE: Von Recklinghausen's neurofibromatosis is a dominant autosomic genetic disease characterized by different clinical manifestations. The goal of this work was to study its orthopaedic manifestations and to show the characteristics of their management. METHOD: A retrospective study was carried out on 15 patients having a Von Recklinghausen's neurofibromatosis. For each patient, different orthopaedic manifestations and their evolution after treatment were analyzed. These manifestations were classified in spinal deformities, pseudarthrosis of long bones and tumours of the peripheral nerves. RESULTS: The spinal deformities were observed in 9 cases. A dystrophic scoliosis was observed in 6 patients with an average angle of 50° and was associated to a kyphosis in 5 patients. The treatment was surgical by posterior arthrodesis in 2 cases and circumferential arthrodesis in 2 cases. The congenital curves and pseudarthroses of leg were observed in 5 cases, localized at the lower third of the leg in all cases. An Ilizarov external fixator with segmental osseous transport was carried out in 2 patients. The duration of the external fixator was 23 months ½ with 5 interventions in each case. Four plexiform neurofibromas and 3 nodular neurofibromas were observed. A transformation into neurofibrosarcoma was found in 2 patients. In one case, a resection without functional sacrifice was carried out and in the other case the patient was dead before the resection. CONCLUSION: The orthopaedic manifestations of Von Recklinghausen's neurofibromatosis are frequent, varied and have a difficult management. The functional and sometimes vital prognoses are challenging.

[Ewing sarcoma osseous and extraosseous : a clinicopathologic study of 29 cases]. / Sarcome d'Ewing Osseux et Extra Osseux : Etude anatomo-clinique de 29 cas.

BACKGROUND: Ewing's sarcoma (ES) is a rare tumour accounting for 10% of primary malignant bone tumours in children and 3% of all childhood malignancies. ES belongs to a group of small round cell tumours. AIM: In this review, we will describe the main clinicopathological features of this rare tumour and discuss its prognosis. METHODS: We report a retrospective study of 29 cases of ES, of which 4 were extraosseous, diagnosed over a period 11 years (January 1989 - December 1999). Clinicopathological data were described. Hematoxylin-eosin staining and immunohistochemical study were reviewed. RESULTS: 12 patients were male and 17 were female (ratio: 0,8) with a median age of 16 years. 62,5% of tumours were located in flat bone and 33,3% in long bone. The medium size of the tumor was 10,6 cm (range:3-25cm). 27,5% of patients presented with metastatic disease at time of diagnosis. Microscopically, tumour tissue was composed of round, small, blue cells with fine granular chromatin. Tumour cells strongly coexpressed CD99 and vimentin (100%). Systemic treatment consisted of adjuvant chemotherapy (84,2%). Local control was based on and surgery (57,9%) or radiation therapy (36,8%). A good response to chemotherapy was obtained in 37.5%; 13,7% of patients were alive without disease (medium follow up: 169 mois); 34,5% of patients developed metastases (medium follow up : 23 months) and 10,3% developed recurrences (medium follow up :13 months). CONCLUSION: Our study emphasizes two points : the great size of the tumor and the frequent location in flat bone which may explain the poor prognosis of Ewing sarcoma in our series despite the multidisciplinary treatment.

Adenoid cystic carcinoma of the parotid with facial nerve invasion.

BACKGROUND: Adenoid cystic carcinoma comprises approximately 10% of all epithelial salivary neoplasms and most frequently involves the parotid. Perineural invasion is a common feature but intraneural invasion and spread is less common. AIM: The authors report a case of parotid adenoid cystic carcinoma with invasion and spread via the facial nerve with an emphasis on radiologic features. OBSERVATION: We report a case of a 47-year-old man presenting with a right submandibular mass evolving for 4 years. On physical examination, the mass was firm painless, well delineated. There was no facial paralysis. The magnetic resonance imaging (MRI) examination showed a right parotid gland solid mass located in the deep lobe of the parotid gland with mastoid bony involvement.The mass was heterogenously enhanced. High resolution non contrast computed tomographie (CT) scan of the temporal bone showed in the axial and coronal cuts, a widening of the mastoid segment of the facial canal with involvement of the facial nerve. Pathologic examination of the resected specimen revealed histological features of adenoid cystic carcinoma with intra neural invasion of the mastoid segment of the facial nerve. The surgical margins were free. The evolution was favourable 5 years later. CONCLUSION: This study confirms that multiplanar approach of MRI allows rapid detection of adenoid cystic carcinoma. The influence of intraneural invasion and spread on survival remains controversial.

A rare Wilkins group II fracture of the proximal radial metaphysis.

In this study, we report a rare fracture of the proximal radial metaphysis in an 11-year-old child, involving an anterior displacement of the proximal radial metaphysis instead of a displacement of the epiphysis, which preserved its normal connections with the capitellum. This fracture was successfully treated by closed reduction and wire fixation. The reduction maneuver attempted to reduce the proximal radial metaphysis under the epiphysis instead of doing the opposite. The mechanism of this injury is probably an extension strain on a forearm in pronation associated with a violent contraction of the biceps brachialis muscle. This fracture is considered as a rare example of Wilkins group II angular fracture of the proximal radial metaphysis, without proximal ulnar fracture.

Neuroimaging findings in children with infantile spasms.

OBJECTIVE: The aim of the study was to document the neuroimaging findings of children with infantile spasms (IS) seen over a 3-year period. METHODS: All children below the age of 4 years who presented to the Pediatric Department at the Northern Area Armed Forces Hospital, Hafr Al-Batin, Kingdom of Saudi Arabia from January 1, 1998 to December 31, 2000 with a history of seizures, atypical movements, psychomotor delay, flexor, extensor spasms or both were included in the study. Relevant birth, developmental and family history as well as information on the pattern of fits were documented. Investigations included complete blood count, serum electrolytes, liver function tests, screening for acquired and congenital metabolic disorders. The electroencephalogram, brain magnetic resonance imaging and computerized tomography scans were carried out routinely on all the children. RESULTS: There were a total of 30 Saudi children, 17 males and 13 females that fulfilled the criteria for evaluation of infantile spasms. The mean age was 10 months. The major causes of IS in this study were congenital brain lesions (40%) infections (20%), and birth trauma/asphyxia (16.7%). The etiology was unknown in 6 (20%) cases. The neuroimaging pattern was dysgenesis (30%), brain atrophy (23.7%), infarctions/hemorrhage (10%) and hydrocephaly (10%). In 8 cases (26.6%) the findings were normal. CONCLUSION: The neuroimaging findings in this study are comparable with observations in other studies carried out under different clinical settings and environment.

Petro-cavernous chondroma. CT and MRI features.

The authors report an unusual location of a benign chondroma of the petro-sphenoidal synchondrosis extending into the cavernous sinus. Computerized tomography and magnetic resonance image features were characteristic of chondroid tumor. However, pathologic verification is mandatory in order to distinguish chondroma from chondroblastoma or chondroid chordoma.

Magnetic resonance imaging and Neuro-Behcet Disease.

Behcet disease is a rare multi-system immune related vasculitis which may involve the central nervous system, usually during the course of the illness. Magnetic resonance imaging is currently the modality of choice for the detection of the parenchymal lesions in their different phases, as well as the dural sinus venous thrombosis.