Fetal akinesia deformation sequence. Case report.

A patient with a rare congenital lethal skeletal dysplasia characterised by thin gracile bones and fractures secondary to a neuromuscular disease is reported. This disease has to be differentiated with other thin, gracile bone disorders.

Intervertebral disc calcifications in children.

PURPOSE: This study was done to assess the presence of both asymptomatic and symptomatic intervertebral disc calcifications in a large paediatric population. MATERIALS AND METHODS: We retrospectively reviewed the radiographs taken during the past 26 years in children (age 0-18 years) undergoing imaging of the spine or of other body segments in which the spine was adequately depicted, to determine possible intervertebral disc calcifications. The following clinical evaluation was extrapolated from the patients' charts: presence of spinal symptoms, history of trauma, suspected or clinically evident scoliosis, suspected or clinically evident syndromes, bone dysplasias, and pre- or postoperative chest or abdominal X-rays. RESULTS: We detected intervertebral disc calcifications in six patients only. Five calcifications were asymptomatic (one newborn baby with Patau syndrome; three patients studied to rule out scoliosis, hypochondroplasia and syndromic traits; one for dyspnoea due to sunflower seeds inhalation). Only one was symptomatic, with acute neck pain. Calcifications varied in number from one in one patient to two to five in the others. CONCLUSIONS: Apart from the calcification in the patient with cervical pain, all calcifications were asymptomatic and constituted an incidental finding (particularly those detected at the thoracic level in the patient studied for sunflower-seed inhalation). Calcification shapes were either linear or round. Our series confirms that intervertebral disc calcifications are a rare finding in childhood and should not be a source of concern: symptomatic calcifications tend to regress spontaneously within a short time with or without therapy and immobilisation, whereas asymptomatic calcifications may last for years but disappear before the age of 20 years. Only very few cases, such as those of medullary compression or severe dysphagia due to anterior herniation of cervical discs, may require surgical procedures.

Cowper's glands and ducts: radiological findings in children.

PURPOSE: The aim of this study was to describe the radiological features of simple or dilated (syringocele) Cowper's ducts in a large paediatric population. MATERIALS AND METHODS: Voiding cystourethrography procedures performed during the past 24 years were evaluated taking into special account urethral morphology. The procedures were performed to study all sorts of possible urinary affections. RESULTS: A total of 1,676 male children (age: newborn to 18 years) underwent 2,340 voiding cystourethrographies. Opacification of Cowper's ducts was observed in nine children (0.53%) - in six (0.35%) as a thin, radiopaque image running parallel to the inferior edge of the membranous-bulbar urethra and in three (0.18%) as a dilated structure (syringocele); this was a source of significant voiding problems. CONCLUSIONS: Opacification of Cowper's ducts - even if rare - has to be recognised as a possible anatomical finding during voiding cystourethrography in paediatric patients. An accessory finding devoid of pathological meaning in most cases, it can, however, be a possible cause of voiding disorders in some instances.

Clinical and radiological findings in Kirner's deformity. A report of nine cases.

PURPOSE: The purpose of this study is to report radiological findings and evaluate the frequency with which Kirner's deformity is found in a large paediatric population. MATERIALS AND METHODS: We reviewed X-ray films of the hands taken over the past 23.5 years in order to assess not only bone age but all sorts of bone abnormalities (trauma, haematological disorders, bone syndromes and dysplasias, dysmorphic features, rheumatic disorders, etc.) to retrospectively evaluate all those presenting Kirner's deformity. RESULTS: Among the 16,326 patients who underwent X-ray study of the hands, nine (six males and three females, 0.055% of the total) presented the typical radiological features of Kirner's deformity; no patient had a family history of the disorder except for one, in whom the suspicion of familiarity could not be verified radiologically. The diagnosis of Kirner's deformity was straightforward in most cases. In one case, a girl affected by Turner's syndrome, the abnormality was suspected, and its appearance, development and evolution was followed over 10 years. CONCLUSIONS: Although rare, as also shown by our study, Kirner's deformity must be recognised and properly diagnosed in order to spare the subject unnecessary surgical procedures.

Long-term follow-up in children treated for retroperitoneal malignant tumours.

Thirty-two long-term survivors after treatment with surgery, radiotherapy and chemotherapy for neuroblastoma (NRB) and Wilms' tumour (WT) were re-evaluated after a period of more than 10 years (mean 16 yr 1 mo, range 27 yr 2 mo/10 yr 5 mo). In addition to routine clinical and laboratory studies, all patients underwent auxometry, echocardiography, spinal X-ray, abdominal US and kidney radionuclide scans. Neither obvious physical signs nor cutaneous toxicity were noted at inspection. No dysmenorrhoea or sexual disorders were mentioned. Haematological data turned out to be all in the normal range, except for TIBC/UIBC ratio (out of range in 70 % of cases); gammaGt (62.5 %); A/G ratio (12.5 %); ALT (37.5 %). Auxometrical data were all in the normal range; in particular, results of mean weight and height were just slightly over the 50 degrees centile. Spinal X-rays revealed mild kyphotic deformities (68.9 %), pelvic obliquity and tilting (62.5 %), rotation of the vertebral bodies (34.3 %) and compensatory curves of the spine (21.8 %). No impairment of cardiac functions was noted at echocardiography. No alteration of the hepatic structure was detectable at US scans. Marked impairment of the renal function (20 % and 1.5 % residual function) was detected at radionuclide imaging in 2 NRB patients who had not undergone nephrectomy, with the kidney having almost disappeared in one. In conclusion, the study emphasises the need for careful and prolonged follow-up for the detection of sequelae than can appear even many years after the initial treatment, and the wisdom and the need for a continued search for less aggressive protocols; as long as the cure rate is not compromised, less aggressive protocols should aim for a satisfactory overall survival with a reduced incidence of sequelae and hence a better quality of life.

Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia.

BACKGROUND: Hypochondroplasia is characterised by phenotypic and genetic heterogeneity. Differentiation from other conditions with disproportionate short stature is often difficult. OBJECTIVE: To determine the reliability of radiological interpretation in the diagnosis of hypochondroplasia and to evaluate the most typical skeletal abnormalities. These data were correlated with molecular findings. MATERIALS AND METHODS: We enrolled 21 patients with suspected hypochondroplasia based on the radiological criteria most often reported in the literature on this disease. Height, sitting height and head circumference were measured in all patients. Radiographs of the lumbar spine, left leg, pelvis and left hand were obtained. The presence of the N540K mutation in the fibroblast growth factor receptor 3 (FGFR3) gene was verified by restriction enzyme digestion. All radiographs which enabled the selection of patients were reviewed a second time by two paediatric radiologists in a blinded examination. Their results were compared. RESULTS: Both radiologists confirmed the diagnosis in 10 out of 21 patients, while in the other 52% of cases they excluded the disease, were uncertain or they did not agree on the final interpretation of the data. The best agreement rate was obtained in the evaluation of the lumbar spine and the legs. The radiological features of the nine patients (43%) carrying the N540K substitution were not remarkably different from the ones reported in the patients without this mutation. CONCLUSION: Our study shows that the crucial skeletal regions on which to focus the diagnosis of hypochondroplasia are the lumbar spine and legs, while the pelvis and hands seem to be less characteristic. To reduce the risk of misdiagnosis, accurate radiological and clinical evaluation is needed, especially in cases without a defined genetic defect.

Genomic organization of the HSET locus and the possible association of HLA-linked genes with immotile cilia syndrome (ICS).

The kinesin-related protein (HSET) gene belongs to the kinesin superfamily, the members of which are involved in cellular transport processes. The HSET gene product was previously characterized by partial cDNA sequencing. The gene is located on the short arm of human Chromosome 6 (6p21.3), at the centromeric end of the major histocompatibility complex. Here, we report the genomic structure of the complete HSET gene together with its flanking loci. Sequence analysis of the 40 kilobase (kb) cosmid clone containing the HSET gene also revealed the presence of several new genes not related to the kinesin superfamily. These include a 60S ribosomal protein L35A-like pseudogene (rPL35A-like) on the telomeric side and a polycomb-like gene (PHF1), a copper tolerance-like gene (CUTA1) and the 5' part of the synaptic ras-GTPase-activating protein (SynGAP) gene centromeric of HSET. In addition, a complete 60S ribosomal protein L12-like (rPL12L) gene in intron 3 of the HSET gene was identified which appears to have an open reading frame. The possible involvement of the HSET gene and a beta-tubulin gene (TUBB) in the pathogenesis of immotile cilia syndrome (ICS) was studied by screening two unrelated ICS families with microtubular defects and suspected HLA linkage for mutations within the HSET gene and the TUBB gene. Four single base substitutions were detected in the HSET gene, and none in the TUBB gene. On the basis of these data, a role of the HSET and TUBB products in the pathogenesis of ICS in the two families is unlikely.

[Botallo's duct calcification in children: radiologic findings]. / La calcificazione del dotto di Botallo nell'età pediatrica: aspetti radiologici.

INTRODUCTION: Calcification of the ductus and ligamentum Botalli with no cardio-respiratory symptoms is normally a sign of their closure. However, as the calcification can be associated with a patent duct or a ductal aneurysm, its presence must not be misinterpreted. The frequency and the different patterns of this calcification must be known, as well as is diagnostic relevance. It is also important to differentiate it from other types of upper mediastinal calcification. MATERIAL AND METHODS: Thirty-two cases of ducts Botalli calcification were collected over 16 years, during which time period 38,476 children (24,095 males, 14,381 females) were submitted to chest radiography. Patient populations were divided into the following age-groups: preterms-newborns; 2-3 months; 4-6 months; 7-12 months; 2-3 years; 4-6 years; 7-10 years; 11 years on. We studied the ductus Botalli according to the following parameters; conspicuity, location, size and shape of the calcification; prevalence of the radiographic finding in 1,000 patients by gender and age; persistence of the finding in follow-up examinations. RESULTS: The calcification was found in left mediastinal site at the posterior aspect of the 4-6th ribs, ranging 1-6 mm in length, and 1-4 mm in width. It had a round, comma-like or elongated shape. In all, 32 cases of ductal calcification (.83/1000) were found: 14 (44%) were in males (age range 7 months-12 years), 18 (56%) in females (age range 11 months-10 years). Age range analysis shows that the calcification is distributed more evenly in the male population with the highest number of calcified ducts (5 = 94/1000) found in the 4-6 year age group and a relative prevalence in the age group 7-12 months (2 cases = 1.05/1000). A marked prevalence is found in females 4-6 years old (11 cases = 3.8/1000). The duct calcification was an occasional finding during chest radiography for other, more severe conditions in 9 of 14 males and in 6 of 18 females. CONCLUSIONS: No data can be found in the literature on the frequency of ductus Botalli calcification at chest radiography: our results indicate it to be less than 1/1000 (.83/1000). We have found a prevalence of ductus calcification (1.25/1000) in females even though females are less numerous in our population. The ductal calcification is often associated with severe, mostly hematologic, diseases. We believe that the conspicuity of the calcification is due to its density more than to its shape and size. Literature data indicate that ductus calcification may still be visible 6 months to 8 years after its discovery: our results, although on a small series, confirm this observation. The clinical significance of the calcification is still unclear.

Radiologic progression in patients with juvenile chronic arthritis treated with methotrexate.

We investigated the rate of radiologic progression, as measured by carpal length, in 26 children with juvenile chronic arthritis who were treated with methotrexate. After 2 years of treatment, the carpal length was significantly more deteriorated in nonresponders in both the "better" wrist (P = .001) and the "worse" wrist (P = .005). These results show that methotrexate may have a "disease modifying" potential in juvenile chronic arthritis.

Bilateral glenoid hypoplasia.

A case of bilateral glenoid hypoplasia in a boy afflicted with posterior fossa medulloblastoma is described. Glenoid hypoplasia is a rarely reported bilateral finding either in subjects complaining of shoulder pain or abduction/adduction movements reduction as well as shoulder recurrent dislocations. In this patient as in most of those reported in the literature the finding was incidental and could have been easily overlooked. It consists of shallow, irregular glenoid fossae which are hypoplastic, whereas the humeral heads are normal in size and shape. At the present time there is no explanation for this anomaly.