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Biomedical subjects

E M Azouz

Publications and source records attributed to E M Azouz.

At least 37 records · Page 2Linked to original sources
PubMed1996

New form of bone dysplasia with multiple fractures associated with monosomy X.

We report on the clinical, radiologic, and pathologic findings in a 20-week-old fetus with monosomy X and severe hydrops associated with fetal dwarfism. The fetus presented with osteoporosis, bent bones, multiple fractures, and distinctive symmetric submetaphyseal transverse bone interruptions or pseudofractures. We excluded by radiologic and histopathologic examination the diagnoses of osteogenesis imperfecta, hypophosphatasia, campomelic dysplasia, achondrogenesis, hypochondrogenesis, and other types of bone dysplasia. To our knowledge, this is a previously undescribed bone dysplasia associated with monosomy X. This bone dysplasia may be inherited as an X-linked recessive disorder.

Bone Diseases, Developmental↗
PubMed1996

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

We describe a female patient with multiple anomalies suggestive of a new syndrome. Manifestations include: VSD and ASD, mild developmental delay, conductive hearing loss, minor facial anomalies, thrombocytopenia, and radiological findings (including carpal fusion). Some of these manifestations may be present in the Keutel syndrome, IVIC syndrome, and the 10qter deletion syndrome. However, none of these syndromes can explain the spectrum of anomalies seen in our patient.

Abnormalities, Multiple↗
PubMed1995

Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization.

We describe a 21-week-old fetus with a pattern of multiple congenital anomalies suggestive of the human homologue of the mouse mutant disorganization (Ds). Manifestations included facial asymmetry, thick eye brows, micrognathia, apparently lowset ears, an enormous abdominal wall defect, severe kyphoscoliosis, camptodactyly of the fingers, complete absence of the left lower limb, and absence of the lower part of the sacrum and coccyx, as well as left side of the pelvis. There was a disorganized appearance of the right foot with supernumerary digits and appendages and talipes equinovarus. No obvious amniotic bands or oligohydramnios were noted. Similar cases in the literature are reviewed and the clinical significance to genetic counselling is emphasized.

Adult↗
PubMed1995

Synovial hemangioma: imaging features in eight histologically proven cases, review of the literature, and differential diagnosis.

OBJECTIVE: This study was undertaken to describe the imaging characteristics of synovial hemangioma, with the goal of improving the disappointing rate (22%) of clinical diagnosis of this condition. A review of the literature and the differential diagnosis of intra-articular lesions, including synovial osteochondromatosis and pigmented villonodular synovitis, are also presented. PATIENTS: The subjects of the study were 8 patients (4 males, 4 females; age range: 5-47 years; mean age: 19 years) with histologically confirmed synovial hemangioma involving the knee (n = 7) or wrist (n = 1). We retrospectively examined the imaging studies performed in these patients, including plain radiography (n = 8), magnetic resonance imaging (MRI; n = 4), angiography (n = 3), arthrography (n = 2), and contrast-enhanced computed tomography (CT; n = 2). RESULTS: Plain radiographs showed a soft tissue density suggesting either joint effusion or a mass in all patients. Phleboliths and bone erosions on plain films in four patients with extra-articular soft tissue involvement pointed to the correct diagnosis. Angiography, showing fine-caliber, smooth-walled vessels, contrast pooling in dilated vascular spaces, and early visualization of venous structures, was diagnostic in two patients. Neither arthrography nor CT yielded specific enough findings. MRI was consistently effective in allowing the correct diagnosis to be made preoperatively, showing an intra-articular or juxta-articular mass of intermediate signal intensity on T1-weighted images and of high signal intensity of T2- or T2*-weighted images with low-signal channels or septa within it. A fluid-fluid level was found in two patients with a cavernous-type lesion. CONCLUSION: Despite the limited nature of this study, it shows clearly that MRI is the procedure of choice whenever an intra-articular vascular lesion such as synovial hemangioma is suspected. Nonetheless, phleboliths and evidence of extra-articular extension of plain radiographs point to angiography as an effective procedure of first resort because it can be combined with embolotherapy.

Adolescent↗
PubMed1995

Juvenile spondyloarthropathies: clinical manifestations and medical imaging.

The spondyloarthropathies comprise four distinct entities--ankylosing spondylitis, psoriatic arthritis, the arthritis associated with inflammatory bowel disease, and Reiter's syndrome and other related forms of reactive arthritis. Although these are distinct diseases, they have a number of clinical, radiologic, and genetic characteristics in common which permit them to be classified under the unifying term "spondyloarthropathy". They are diseases of young adults, and when they present in patients under 16 years of age we refer to them as the "juvenile" spondyloarthropathies. They must be distinguished from juvenile rheumatoid arthritis, which is a totally separate entity; however the distinction may not always be obvious. Involvement of peripheral and sacroiliac joints commonly occurs in the juvenile spondyloarthropathies. The peripheral arthritis may be erosive and associated with bone apposition at the joint margins. Axial involvement is usually a late finding. Dactylitis and tenosynovitis are frequently present early on. Enthesitis, a highly specific feature, occurs much more often in the juvenile spondyloarthropathies than in the adult forms and it may be the only presenting feature. The plain radiograph is the primary and most important imaging modality for the assessment of these diseases. However, an expanding role of magnetic resonance imaging is evident.

Adolescent↗
PubMed1995

Large intrathoracic tumors in children: imaging findings.

Massive benign or malignant thoracic tumors in children may arise from the chest wall, pleura, lung parenchyma, or mediastinum and may be primary or secondary. On initial chest radiographs, these masses usually appear as an opaque hemithorax or an obvious large opaque mass. If the site of origin of the intrathoracic tumor can be determined, the differential diagnosis may be based on the location of the tumor, the age of the patient, and distinguishing imaging features. The purpose of this essay is to illustrate imaging findings of large intrathoracic masses that cause an opaque hemithorax on initial chest radiographs. Chest wall masses that do not grow primarily intrathoracically are not included in this discussion.

Adolescent↗
PubMed1994

Abdominal tuberculosis in children.

Four boys with abdominal tuberculosis, one of whom had acquired immunodeficiency syndrome, are presented. Abdominal imaging findings on plain radiography, ultrasonography, computed tomography, and gastrointestinal contrast studies included tuberculous peritonitis and ascites in all patients, tuberculous adenopathy in two, gastrointestinal tuberculosis in two, and omental tuberculosis in two. The radiographic features particularly characteristic of abdominal tuberculosis were: (1) low attenuating adenopathy with rim enhancement, (2) omental or ileocecal inflammatory mass, (3) high density ascites, and (4) gastrointestinal enteritis involving the ileocecal region. All patients had acid-fast bacilli identified in cultures of bodily fluids and/or pathologic specimens and three patients had cultures positive for Mycobacterium tuberculosis. The patient with a negative culture had a positive PPD skin test and a surgical specimen showing caseating granulomata and acid-fast bacilli in the omentum. The radiologist must maintain a high degree of suspicion for abdominal tuberculosis particularly in normal or immunosuppressed children with acquired immunodeficiency syndrome. Fine needle aspiration and biopsy of abdominal adenopathy, inflammatory mass or ascites may be necessary for diagnosis.

Acquired Immunodeficiency Syndrome↗
PubMed1994

Persistence and possible progression of a pelvic neuroblastoma detected by mass screening during 19 months.

PURPOSE: The preclinical detection of neuroblastoma by screening for elevated levels of urinary catecholamines often leads to the discovery of children with early-stage, biologically favorable disease. It is uncertain how vigorously therapy must be pursued in such cases. We report an infant whose pelvic mass was initially thought to be a fecaloma, and consequently was not treated for 19 months. CASE REPORT: A 2-month-old girl was referred for evaluation for the presence of a neuroblastoma because of elevated urinary catecholamines detected in a mass screening program. Although no mass was initially found, urinary catecholamines became increasingly elevated, and a pelvic mass was finally radiologically identified. It was resected. Histology showed it to be a neuroblastoma, POG stage C, International stage 3, with unfavorable Shimada features, although near triploid with an unamplified N-myc oncogene. Chemotherapy was given for five cycles, and the child remains well, with no evidence of disease. CONCLUSION: Although mass screening programs often detect early- stage, biologically favorable neuroblastomas that may spontaneously regress, our case had rising levels of urinary catecholamines and unfavorable histologic features at the time of resection. The unusual location of the tumor, and radiologic features of a fecaloma, contributed to the delay in definitive diagnosis, although persistence of elevated urinary catecholamines in the absence of a tumor is infrequent.

Catecholamines↗
PubMed1993

Phocomelia, oligodactyly, and acrania: the Schinzel-Phocomelia syndrome.

We report on a girl born with phocomelia of both lower limbs, with 3-toed feet and partial sacral agenesis. She had normal growth of the upper limbs and trunk, and normal intelligence. Ultrasound study performed during the subsequent pregnancy documented a large skull defect with an intact brain. Fetal autopsy following the termination of that pregnancy was not done. We think this is a further report of the phocomelia syndrome with additional anomalies as reported by Schinzel [Hum Genet 84:539-541, 1990].

Abnormalities, Multiple↗
PubMed1993

CT evaluation of primary epiphyseal bone abscesses.

We reviewed the clinical, radiographic, and computed tomographic (CT) findings in eight children with a histologically proven diagnosis of epiphyseal or apophyseal osteomyelitis. In all cases the femur was involved: in five the osteomyelitis was localized in the femoral condyle, in two it was in the greater trochanter, and in one it was in the femoral head epiphysis. In four of the six cases of epiphyseal involvement there was associated joint effusion or septic arthritis. CT examination may demonstrate a serpentine tract, a sequestrum, cortical destruction or adjacent soft tissue swelling and can differentiate osteomyelitis from other epiphyseal lucent lesions, particularly chondroblastoma and osteoid osteoma. CT yielded important new diagnostic information in seven of the eight patients, failing to do so in only one. In one case, CT showed a wooden splinter in an abscess cavity, which had been mistaken for a sequestrum. When combined with accurate clinical and laboratory information and good quality plain radiographs, CT can lead to an early diagnosis of epiphyseal infection. Early diagnosis helps avoid delays in initiating antibiotic or surgical treatment caused by the unusual (epiphyseal or apophyseal) location of the bone abscess.

Abscess↗
PubMed1993

Types and complications of femoral neck fractures in children.

This multicenter collaborative study was undertaken to review the types and complications of femoral neck fractures in children. It is a retrospective clinical and radiological review of 108 femoral neck fractures. Cases originated from four different pediatric hospitals. All the patients had plain radiographs. Fractures occurred at all ages (one day to 18 years), and 63% of the patients were boys. Forty-nine fractures were traumatic; 37 were pathologic, 19 were insufficiency fractures; and three were fatigue fractures. Unless the underlying bone was abnormal, significant high velocity trauma, fall from a height or other severe violence was required to fracture the femoral neck. A unicameral bone cyst was the underlying lesion in 40% of pathologic femoral neck fractures and malignancy in 35%. Osteoporosis as in myelodysplasia, osteogenesis imperfecta and from other causes was responsible for 52% of insufficiency fractures. Because of the unique osseous and vascular anatomy of the femoral head and neck in the growing child, these fractures have a high incidence of complications. Complications included avascular necrosis 13%, premature closure of the epiphyseal plate 12%, varus deformity 8.3%, and nonunion 3.7%. Unless there is a clear history of significant violence, a cause for a femoral neck fracture should be sought, e.g. an underlying bone lesion or a metabolic bone disease. These fractures are rare, but are serious injuries since their complications may lead to a life-long disability.

Adolescent↗