PubMed Health⌕ Search

Biomedical subjects

F Vanhoenacker

Publications and source records attributed to F Vanhoenacker.

At least 19 recordsLinked to original sources
PubMed2005

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.

Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding transforming growth factor (TGF) beta1. Pain in the extremities was the most common clinical symptom, present in 68% of the patients. A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement. A large percentage of the patients also showed involvement of the skull (54%) and pelvis (63%). The review provides an overview of possible treatments, diagnostic guidelines, and considerations for prenatal testing. The detailed description of such a large set of CED patients will be of value in establishing the correct diagnosis, genetic counselling, and treatment.

Camurati-Engelmann Syndrome↗
PubMed2005

An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation.

Juvenile Paget's disease (JPD) is a rare condition with an autosomal recessive mode of inheritance. Typically presenting in infancy or early childhood, the disorder is characterized by a generalized widening of the long bones and thickening of the skull combined with sustained elevation of serum alkaline phosphatase levels. The extremely rapid bone turnover results in osteopenia, fractures, and progressive skeletal deformity. In 2002, mutations in TNFRSF11B, the gene encoding osteoprotegerin, were described as underlying JPD. We evaluated a patient with JPD at the clinical, biochemical, radiological, and molecular level. Mutation analysis of TNFRSF11B revealed a homozygous insertion/deletion in exon 5, predicted to result in truncation of the protein at amino acid 325. The residual activity of the mutated protein product was investigated by Western blotting and ELISA upon transient overexpression. Absence of the C-terminal domain abolished homodimerization and was shown to lead to a decreased capacity of the mutant protein to bind its ligand RANKL. We conclude that truncation of the C-terminal part of osteoprotegerin negatively affects functional activity. As a consequence, osteoclast formation and function are up-regulated, causing the increased bone turnover seen in this patient.

Adult↗
PubMed2005

The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.

We report a four generation family with features of the facio-audio-symphalangism syndrome. This condition is characterized by proximal symphalangism, conductive hearing loss due to stapes fixation and a distinctive facies. A novel nonsense mutation in the NOG gene on chromosome 17q22 was identified in the patients. The variable expression and progressive nature of the syndrome is well illustrated by this family. The role of Noggin as the causative factor of symphalangism is discussed.

Abnormalities, Multiple↗
PubMed2004

Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.

A positional cloning effort in French Canadian families with Paget's disease of bone (PDB) resulted in the identification of a mutation in the sequestosome1 (SQSTM1) gene in a subset of both familial and sporadic PDB cases. This was confirmed in samples of mainly United Kingdom (UK) origin. In this study, we performed both mutation analysis and association studies in order to evaluate the role of this gene in a collection of isolated Belgian PDB patients. A mutation in the SQSTM1 gene was found in only 6 of 111 patients (5.4%). In all cases it involves the P392L mutation, previously shown to be common in both familial and sporadic cases. To perform association studies, we selected 8 single nucleotide polymorphisms (SNPs) and looked for linkage disequilibrium (LD) between these. Haplotype analysis indicated that typing of 3 Tag SNPs (IVS1 + 633A/C, IVS5 - 23A/G, and 976A/G) enables us to identify the most common haplotypes. Association studies for the 3 selected SNPs, based on 105 PDB cases without a SQSTM1 mutation and 159 control individuals, did not support a possible influence of natural variants in the SQSTM1 gene either on the pathogenesis of PDB or on the disease severity. In conclusion, our study confirms that the P392L mutation is a recurrent mutation causing PDB in different populations. We were not able to show an association between SQSTM1 polymorphisms and PDB in our population but this clearly needs to be extended to other populations. The presented identification of haplotype Tag SNPs will be of major help for such studies.

Adaptor Proteins, Signal Transducing↗
PubMed2003

Value of MRI in the diagnosis of non-clival, non-sacral chordoma.

OBJECTIVE: To determine the MR features of non-sacral, non-clival chordoma and to describe a MR prototype of the lesion. DESIGN AND PATIENTS: We reviewed the MR findings of 10 patients with a histologically proven chordoma (6 cervical spine, 1 thoracic spine, 3 lumbar spine). There were three female and seven male patients. Age ranged from 12 to 66 years with a mean age of 44.6 years. The MR images were reviewed for signal intensity (SI) and morphology. RESULTS: All lesions showed a soft tissue extension spanning several vertebral segments. Most of the lesions exhibited a so-called collar button appearance (sagittal images). Two cases of cervical chordoma displayed a "dumbbell morphology" (axial images) or "mushroom" appearance without bone involvement and with enlargement of the neuroforamen mimicking a neurogenic tumor. Although the region of the nucleus pulposus is the last part of the fetal notochord in the adult to involute, disks were surprisingly spared in all patients. Eight of 10 patients showed heterogeneous SI on all sequences. The overall SI of all lesions was isointense or slightly higher than that of muscle on T1-weighted images. All lesions exhibited high SI on T2-weighted images. After gadolinium contrast administration there was a moderate enhancement in most cases. CONCLUSIONS: Although the SI on MR imaging is not specific, chordoma should be considered when a destructive lesion of a vertebral body is associated with a soft tissue mass with a collar button or mushroom appearance and dumbbell morphology, spanning several vertebral segments and sparing the disk(s).

Adult↗
PubMed2002

Lymphadenopathy at the medial epitrochlear region in cat-scratch disease.

Our objective was to describe the imaging features of lymphadenopathy at the medial epitrochlear region as frequently seen in cat-scratch disease (CSD) and to compare these features with those seen in non-CSD. Ten patients (four males and six females) presented with a subcutaneous soft tissue mass at the medial epitrochlear region. Three patients were younger than 15 years. Magnetic resonance imaging was performed in all patients. All lesions turned out to be regional lymphadenopathy instead of soft tissue neoplasm. They were caused by benign disorders in eight cases, including seven CSD and one other infection, and in two cases by metastatic disease. All lesions, except for three benign ones, were solitary. On MRI, high signal intensity (SI) strands in the surrounding soft tissue on T2-weighted images (WI) were present in all cases. Three cases of CSD showed homogeneous SI on both T1- and T2WI. After contrast administration, a moderate, homogeneous enhancement was seen. The other seven lesions, except for one metastasis, had both solid and liquid components. Liquid components showed high SI on T2WI without enhancement, whereas solid components had intermediate SI on T2WI and marked enhancement after contrast administration. Pathological findings in seven patients, including four with CSD, supported the tentative diagnosis made on MRI. One of two patients with CSD had positive serological test. Cat-scratch disease is a major cause of a soft tissue swelling at the medial epitrochlear region. Identification of lymphadenopathy and its presentation on MRI may be helpful in eliciting an animal-scratch history and achieving diagnostic and therapeutic aims in patients without primary cancer.

Adolescent↗
PubMed2002

Nodular fasciitis: correlation of MRI findings and histopathology.

OBJECTIVE: To compare the histopathology of nodular fasciitis (NF) with the magnetic resonance imaging (MRI) findings in order to evaluate the basis of the MR signal characteristics. DESIGN AND PATIENTS: Ten patients with NF, nine females and 1 male, with an age ranging from 13 to 58 years (mean 26.8 years) were studied. MRI findings, available in all 10 patients, were compared with the histopathology in nine patients, and an area-to-area comparative study of the whole specimen section histopathology and MRI was performed in two patients. RESULTS: On the basis of an excisional biopsy or resection specimen, the nine lesions were classified into myxoid ( n=4), cellular ( n=3) and fibrous ( n=2) subtypes. Four myxoid lesions with a subcutaneous location showed a homogeneous SI comparable with muscle on T1-weighted images, high SI on T2-weighted images, and had homogeneous enhancement. One cellular lesion presented with homogeneous, slightly higher SI than muscle on T1-weighted images and inhomogeneous, high SI on T2-weighted images. Alcian blue stain of the whole specimen section revealed the lesion had two parts corresponding to different enhancement patterns on MRI. The blue-stained myxoid part showed markedly diffuse enhancement, while the non-stained cystic space had only peripheral enhancement. Two other cellular lesions had the same appearance on both T1- and T2-weighted images and showed inhomogeneous, diffuse enhancement. One fibrous subtype lesion presented with inhomogeneous, overall slightly higher SI than muscle on T1-weighted images, lower SI at the periphery and high SI in the center on STIR images and only peripheral enhancement. Microscopy and CD-31 staining of the lesion showed more extracellular matrix, with poor vascularity in the center and more collagenous matrix with higher vascularity at the periphery. CONCLUSION: Although similar findings were found in some lesions, the large histologic variability of NF hampers the definition of a prototype of NF on MRI. However, the MRI appearance of the myxoid subtype is rather characteristic. Histologic findings reflect the different SI characteristics and enhancement pattern on MRI.

Adolescent↗
PubMed2002

Impact of age and radiographic presentation on the presumptive diagnosis of pulmonary tuberculosis.

We compared delay in presumptive diagnosing pulmonary tuberculosis (PTB) in elderly and younger patents, yield of diagnosis and whether the yield is influenced by the radiographic presentation, even when PTB was suspected. Time from first complaints to first consideration of PTB was determined as suspicion interval (SI) and from first consideration to diagnosis as recognition interval (RI). Presumptive diagnosis was defined as positive staining for acid-fast bacilli or presence of granulomatous lesions in pulmonary specimens. Inthe elderly and in the younger patients, the mean SI was 111.1 and 878 days respectively (P = NS), and the mean RI was 5.9 and 8.3 days, respectively (P = NS). The mean RI was longer in uncharacteristic than in characteristic radiographic findings in both elderly (8.2 and 4.6 days; P = 0.007) and younger patients (10.6 and 3.9 days; P=0.0001). A diagnosis was obtained in 89/113 elderly (79%) and in 109/138 younger (79%) patients (P=NS) and also in 59/80 (73%) patients with uncharacteristic findings and in 139/170 (82%) patients with characteristic findings (P = NS). In the latter, sputum contributed for 66% ofdiagnosis, whereas it was only 31% in patients with uncharacteristic findings (P < 0.005). In elderly patients with uncharacteristic radiographic findings, diagnosis was obtained from sputum in 41% and from other specimens in 35% (P = NS); in the younger group diagnosis was obtained from sputum in 23% and from other specimens in 48% (P < 0.05). In conclusion, there was no difference in SI and RI in elderly patients in comparison with younger patients. Uncharacteristic radiographic findings increased RI in both age groups. Age or radiographic presentation did not influence diagnosing PTB. In patients with characteristic radiographic findings, diagnosis was especially made from examination of sputum, whereas in those with uncharacteristic findings, diagnosis was more often obtained from the complementary investigation of other specimens.

Adolescent↗
PubMed2001

Hereditary neuromuscular diseases.

This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

Charcot-Marie-Tooth Disease↗
PubMed2001

Molecular and radiological diagnosis of sclerosing bone dysplasias.

Bone mineral density (BMD) is a quantitative trait for which the heritability of the variance is estimated to be up to 80%, based on epidemiological and twin studies. Further illustration of the involvement of genetic factors in bone homeostasis, is the existence of an extended group of genetic conditions associated with an abnormal bone density. The group of conditions with increased bone density has long been poorly studied and understood at the molecular genetic level but recently, thanks to recent developments in molecular genetics and genomics, for some of them major breakthroughs have been made. These findings will make the molecular analysis of such patients an additional tool in diagnostics and in genetic counseling. However, the initial identification of affected patients is still largely dependent upon recognition of clinical and radiological stigmata of the disease. Therefore, in this overview of sclerosing bone dysplasias, the classical clinical and radiological signs of this group of disorders will be discussed along with the new molecular insights.

Bone Density↗
PubMed2001

Evaluation of the role of RANK and OPG genes in Paget's disease of bone.

Paget's disease of bone (PDB) is one of the most common bone disorders in the western world. PDB is characterized by focal areas of increased osteoclastic bone resorption and bone formation, which leads to the formation of poorly structured bone. These abnormalities of bone turnover and structure predispose affected individuals to various complications including bone pain, deformity, pathological fracture, and an increased risk of osteosarcoma. One of the main mechanisms of osteoclast formation and activation involves the receptor activator of nuclear factor -kappaB (RANK)/RANK ligand (RANKL)/osteoprotegerin (OPG) pathway, where binding of RANKL to RANK results in the differentiation of osteoclast precursors. OPG, on the other hand, acts as an inhibitor of osteoclastogenesis by serving as a decoy receptor for RANKL. Recently, mutations in the RANK gene have been shown to cause familial expansile osteolysis, a rare bone disorder showing great similarity to PDB. We performed mutation analysis in the RANK and OPG genes in 28 PDB patients to investigate whether mutations in these genes could be responsible for PDB. Our data suggest that RANK is not directly involved in PDB in our set of patients, as no mutations in the RANK coding region could be identified and allele frequencies of RANK polymorphisms did not differ in PDB patients as compared with the random population. Also, in the OPG gene, we could not detect PDB-causing mutations. However, of the several polymorphisms identified, one (400 + 4 C/T in intron 2), showed a statistically significant increased frequency for the C allele in PDB patients, suggesting that individuals harboring this allele may be more susceptible for developing PDB.

Carrier Proteins↗
PubMed2000

Progressive pseudorheumatoid dysplasia.

A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine.

Arthritis, Juvenile↗