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.

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.

[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.

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.

Comparison of clinical-radiological and molecular findings in hypochondroplasia.

Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature. A mutation (N540K) in the fibroblast growth factor receptor 3 (FGFR3) gene was described in some patients with this condition. The aims of the study were to identify the frequency of the FGFR3 gene mutation, to define the salient clinical and radiological abnormalities of the affected subjects, and to verify the contribution of molecular findings to the clinical and radiological definition of hypochondroplasia. Based on the most common radiological criteria, we selected 18 patients with a phenotype compatible with hypochondroplasia. Height, sitting height, and cranial circumference were measured in all patients. Radiographs of the lumbar spine, left leg, pelvis, and left hand were also obtained. The presence of the N540K mutation was verified by restriction enzyme digestions. Half of our patients carried the N540K mutation. Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly. The association of the unchanged/narrow interpedicular distance with the fibula longer than the tibia was more common in patients with gene mutation. Although we did not find a firm correlation between genotype and phenotype, in our study the N540K mutation was most often associated with disproportionate short stature, macrocephaly, and with radiological findings of unchanged/narrow interpedicular distance and fibula longer than tibia.

CD56/neural cell adhesion molecule expression in primary extranodal Ki-1/CD30+ lymphoma. Report of a pediatric case with simultaneous cutaneous and bone localizations.

We describe the clinicopathologic features of an unusual case of CD30+/CD50+ T-cell lymphoma in a child who presented with simultaneous primary extranodal cutaneous and bone localizations. The expression of CD56 (neural cell adhesion molecule, or NCAM) is rare in non-Hodgkin's lymphomas other than in a group of haematopoietic/lymphoid neoplasms of natural killer and natural killer-like T-cells, which usually involve extranodal sites and often pursue an aggressive clinical behavior. Coexpression of CD30 and CD56 in T-cell lymphomas is exceedingly rare, and its biological significance is unknown. Our patient responded well to an intensive chemotherapy regimen, and she is now in complete remission 4 years after discontinuation of chemotherapy. Expression of NCAM could be regarded as responsible, in part, for the extranodal localization of lymphoma cells; expression of CD56 also might contribute to the definition of a subset of CD30+ lymphomas with distinctive clinicopathologic features.

Hypothalamic-pituitary vascularization in pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T1 imaging and turbo-FLASH technique.

We examined 14 patients, aged 10-25 years, with idiopathic hypopituitarism. All presented an ectopic posterior pituitary at the median eminence with a hypoplastic anterior pituitary on magnetic resonance imaging (MRI). Eight patients had isolated growth hormone deficit (IGHD) and six had multiple hormone deficits (MPHD). Unenhanced MRI showed the pituitary stalk, which was extremely thin, in only three patients, while T1-weighted images obtained after intravenous injection of gadopentetate dimeglumine (Gd-DTPA) showed a thin pituitary stalk in seven patients (six with IGHD and one with MPHD), demonstrating a preserved vascular component of the stalk. MRI with Gd-DTPA was more sensitive than unenhanced MRI in detecting the pituitary stalk in patients with hypopituitarism with an ectopic posterior pituitary: the stalk was demonstrated in 50 % of the cases (seven patients), versus 21.4 % (three patients) by unenhanced MRI. The dynamic study of the hypothalamo-hypophyseal axis performed with turbo-FLASH sequences after bolus injection of Gd-DTPA showed the residual anterior pituitary to have arterial enhancement times, which suggests that an arterial system compensates for the absent or diminished blood supply from the portal system, independent of stalk detection.

Transplantation of cord blood progenitor cells can promote bone resorption in autosomal recessive osteopetrosis.

Allogeneic BMT has been reported to be the only curative therapy for children with juvenile autosomal recessive osteopetrosis. We report the case of a 14-month-old child in whom bone resorption was observed after cord blood transplantation (CBT). The patient was given CBT from an unrelated newborn matched for five of six HLA antigens. At the time of transplantation, the child presented with neurological symptoms, with feeding problems and visual impairment. A successful engraftment of donor hematopoiesis was demonstrated and the child experienced grade I acute GVHD. Progressive bone clearing was achieved and a bone marrow trephine demonstrated signs of osteoclast function. Despite full engraftment and bone resorption, neurologic deterioration did not improve. This experience documents that CBT can promote the correction of juvenile osteopetrosis. The shorter time needed both to identify an unrelated donor and to perform the transplant, as well as the lower incidence of GVHD make this procedure more appealing than BMT in children lacking an HLA-compatible relative.

Evolving pituitary hormone deficiency is associated with pituitary vasculopathy: dynamic MR study in children with hypopituitarism, diabetes insipidus, and Langerhans cell histiocytosis.

PURPOSE: To assess pituitary vascularization in children with hypopituitarism, central diabetes insipidus (DI), or Langerhans cell histiocytosis. MATERIALS AND METHODS: Dynamic MR images were obtained through the pituitary stalk after injection of gadopentetate dimeglumine in 21 patients (11 boys and 10 girls, aged 4-17 years) and 10 age-matched control subjects. RESULTS: Initial enhancement of the posterior pituitary lobe occurred simultaneously with that of the straight sinus in all subjects except four patients with central DI and a thick stalk. Enhancement of the entire anterior pituitary lobe was statistically significantly prolonged (P < .005) in the four patients with delayed initial posterior pituitary lobe enhancement. CONCLUSION: Fast-framing dynamic MR imaging provides new information on the blood supply of the hypothalamic pituitary area in normal and abnormal pituitary glands. Enhancement times exceeding 20 seconds for the posterior pituitary lobe and 30 seconds for the anterior pituitary lobe may suggest abnormal vascularization in the hypophyseal arteries and portal system.