Bone growth, modeling and remodeling in a supernumerary metatarsal bone associated with segmental gigantism in cutis marmorata telangiectatica congenita.

Skeletal structure and processes of bone growth, modeling and remodeling were studied in a supernumerary metatarsal surgically removed from a 3-year-old boy affected by Cutis Marmorata Telangiectatica Congenita (CMTC), associated with hypertrophy of the right upper and lower limbs and postaxial hexadactylism of the homolateral hand and foot. No other anomalies were observed. The excess of periosteal growth, due to congenital anomaly, induced an abnormal development of both modeling and remodeling processes. In bone modeling, osteoblast activity on the periosteal surface was not paralleled by osteoclast resorption along the wall of the medullary canal, and this enormously increased the cortical thickness. In bone remodeling, osteoclastic resorption cavities were not refilled by secondary Haversian systems, thus inducing a severe bone loss. While the alteration of bone growth and modeling can be ascribed to the congenital disease, the unbalanced bone remodeling appears mainly to depend on mechanical disuse of the supernumerary metatarsal.

Extraction of a rubber bullet from a bronchus after 1 year: complete resolution of chronic pulmonary damage.

Inhalation of a foreign body (FB) into the bronchial tree rarely occurs asymptomatically and, if leading to recurrent pneumonia, can be very difficult to diagnose. The present report deals with the case of a 10-year-old boy who had three episodes of pneumonia in the left lower lobe caused by the asymptomatic inhalation of a FB 12 months before. Standard thoracic CT, done during the third episode, revealed a slight reduction in the volume of the left lung with air bronchograms, multiple areas of bronchiectasis, and parenchymal consolidation of a segment of the lower lobe. Flexible fiberoptic bronchoscopy revealed a FB at the distal end of the left lower lobar bronchus, surrounded by granulation tissue and fully obstructing the anterior basal segmental bronchus. High-resolution CT (HRCT) images showed an inverted C-shaped image obstructing a bronchus. Removal of the FB was successful only with rigid bronchoscopy under total anesthesia. The FB was an air-pistol rubber bullet that the boy remembered playing with 12 months before. Two months after removal of the FB (ie, 14 months from its asymptomatic inhalation) and treatment with oral steroids, antibiotics, and respiratory physiotherapy, the patient recovered completely, and HRCT showed complete normalization of the lung. We conclude that, when the radiographic density of the FB is greater than the surrounding pulmonary parenchyma, HRCT can reveal the FB, and diagnostic flexible fiberoptic bronchoscopy can be avoided.

Cricoarytenoid arthritis as an early sign of juvenile chronic arthritis.

A 14-month-old girl developed chronic stridor and dyspnoea. Four months later she presented arthritis, anterior uveitis and positive ANA. Juvenile chronic arthritis (JCA) was diagnosed. Laryngoscopy demonstrated the presence of cricoarytenoid arthritis (CA). The left vocal cord was adducted and immobile, while the right vocal cord had decreased mobility. Erythema and swelling of the arytenoid cartilage on both sides was seen. Steroid treatment resulted in the resolution of these symptoms and made airway control unnecessary. This case demonstrates that CA may be the first sign of JCA, preceding peripheral arthritis. CA should be considered in every child with chronic stridor and laryngeal obstruction.

A study of childhood febrile convulsions with particular reference to HHV-6 infection: pathogenic considerations.

Most febrile convulsions (FC) in infants occur during a viral infection, particularly in children of less than 3 years of age; human herpesvirus 6 (HHV-6) has an important pathogenic role. To evaluate the link between this and other viruses and FC, a group of 65 children (mean age 18.46 months, SD +/- 9.19) with a first episode of simple FC (G1) was compared with 24 children (mean age 19.29 months, SD +/- 13.17) with a febrile syndrome but without FC (G2). Virological study showed the following infections: HHV-6 in 23/65 of G1 and in 12/24 of G2, adenoviruses (ADV) in 9/65 of G1 and in 0/24 of G2, syncytial respiratory virus (SRV) in 3/28 of G1 and in 0/2 of G2, HSV-1 in 6/65 of G1 and in 1/24 of G2, cytomegalovirus (CMV) in 2/65 of G1 and in 0/24 of G2 and HHV-7 in 1/42 of G1 and in 1/13 of G2. Children in G1, statistically compared with G2, were significantly more likely to have a family history of FC and circulating granulocytes, while IgM and alpha 2-globulin were less probable. Some cytokines (IL 1 beta, TNF beta and GM-CSF) were found in 24 children in G1 and 12 in G2; no differences were found between the two groups. In the light of our data and of the recent literature, the possibility that the cytokines may act on the nervous system cannot be excluded. Among the HHV-6-infected children, those suffering from convulsions were statistically more likely to have a family history of FC and IgM, while IgA were less likely. In G1, 57 cases were followed up over 2 years: 9 of them had a second episode of FC. Virological diagnosis at the first episode of FC revealed HHV-6 infection in 3 cases, 2 of these being due to viral reactivation. We underline the important role of HHV-6 infection in FC and postulate a relationship between family history and the immunity of the patient; this is confirmed by the loss of statistical significance in the reduction of IgM in G1 compared with G2 with no family history of FC. The reactivation of FC by HHV-6 is a possibility to be borne in mind; an increased number of cases would be needed to confirm this hypothesis.

[Blackfan-Diamond disease with ambiguous genitalia]. / Malattia di Blackfan-Diamond con genitali ambigui.

The Authors describe a case of Blackfan-Diamond anemia with ambiguous genitalia and other minor anomalies. They point out the elements of differential diagnosis with other precocious erythroblastopenic conditions and suppose a recessive inheritance of the disease because of family consanguinity in two generations.

[Pulmonary arteriovenous fistula: a case in childhood]. / Fistola artero-venosa polmonare: un caso di età pediatrica.

The authors describe a rare case of congenital, bilateral arteriovenous fistulas of the lung, without other symptoms of hemorrhagic telangiectasis. The disease was diagnosed in a ten-year-old child, because of a chronic hypossiemia state. The angiography with digitalized technique defined, at the best, the vascular anomalies; the examen cannot be substituted by other imaging methods. First a therapeutic embolisation in angiography was tried without success because of the dimension of the arteriovenous shunt. Then a local excisional therapy was carried out, on one lung. One year after the operation, the oxygenative and clinical conditions of the patient are excellent.

High-performance liquid chromatographic preparation of galactosyl-hydroxylysine, a specific bone collagen marker.

Galactosyl-hydroxylysine, a specific bone collagen marker, has been prepared directly from human urine samples by high-performance liquid chromatography (HPLC) on a preparative column. The compound is the didansyl derivative, as proved by HPLC and mass spectrometry under fast atom bombardment conditions. Since this compound is not commercially available, the procedure reported appears to be the simplest way to prepare it, which is necessary to measure the urinary excretion of this collagen metabolite by HPLC.

Urinary beta-1-galactosyl-0-hydroxylysine (GH) as a marker of collagen turnover of bone.

beta-1-galactosyl-0-hydroxylysine (GH) was measured in the urine of 59 women and 48 men, aged 30-79 years, by High Performance Liquid Chromatography (HPLC) of the dansylated derivative. Vertebral mineral density, measured by quantitative computed tomography (QCT), and urinary GH were inversely correlated (r = -0.74; P less than 0.001). High rate of bone mineral loss is associated with a high urinary GH excretion. Measurement of GH in urine provides a simple and noninvasive method for the evaluation of the extent of bone resorption in large groups of subjects and appears to be more specific than urinary hydroxyproline excretion.

Three-dimensional computed tomography of the acetabulum.

Acetabular fractures represent a complex variety that are classified in different types. Conventional radiology is often inadequate to demonstrate and classify the fractures. Computed tomography (CT) has already been shown to be superior in this field. A further advantage of CT is represented by the recent availability of three-dimensional (3D) images that are realized from axial CT scans by means of a new software. The Authors report the applications of this new software to the study of the normal acetabulum and in patients with fractures. 3D images allows an effective demonstration of the fracture, its irradiation and the dislocation of bone fragments. The information is contained in one or few images rather than many axial images. Therefore the role of 3D images may be considered complementary to axial CT scans.

Quantitative analysis of the bone destroying activity of osteocytes and osteoclasts in experimental disuse osteoporosis.

With the aim of analysing the role played by osteocytes in phospho-calcic homeostasis and in bone metabolism, the amount of bone tissue respectively reabsorbed by osteocytes and by osteoclasts had morphometrically been evaluated in unloaded skeletal segments.

[Preliminary studies on the ultrastructure of osteoid osteoma]. / Osservazioni preliminari sull'ultrastruttura dell'osteoma-osteoide.

The ultra-structural appearance of osteoid osteoma is described. Significant features are; a well-developed endocytoplasmic reticulum, dilated cisterns in the cytoplasm of the osteroblasts, mineralized mitochondria from the cytoplasm of the osteoblasts and crystalline agglomerates on the vesicles rather than on the collagen network. The increased bone forming activity of the tissues of the osteoid osteoma is confirmed by the appearance of the osteoblastic cytoplasm. The presence of needle-like endomitochondrial crystals are further proof of enhanced osteoblastic function of the osteoid osteoma. Granular crystals appear when degenerative processes take place.