Expanding the spectrum of Gorham Stout disease exploring a single center pediatric case series.

Gorham-Stout Disease (GSD), also named vanishing bone disease, is an ultrarare condition characterized by progressive osteolysis with intraosseous lymphatic vessel proliferation and bone cortical loss. So far, about 300 cases have been reported. It may occur at any age but more commonly affects children and young adults. The aim of this study is to retrospectively review our internal patient series and to hypothesize a diagnostic-therapeutic protocol for earlier diagnosis and treatment. Clinical datasets from our center were examined to identify all GSD patients for collection and analysis. We identified 9 pediatric cases and performed a retrospective case-series review to examine and document both diagnosis and treatment. We found that delay in diagnosis after first symptoms played a critical role in determining morbidity and that multidisciplinary care is key for proper diagnosis and treatment. Our study provides additional insight to improve the critical challenge of early diagnosis and highlights a multidisciplinary treatment approach for the most appropriate management of patients with rare GSD disease. Although GSD is an ultrarare disease, physicians should keep in mind the main clinical features since neglected cases may result in potentially fatal complications.

[Role of ultrasonography of the knee in the follow-up of juvenile rheumatoid arthritis]. / Ruolo dell'ecografia del ginocchio nel follow-up dell'artrite reumatoide giovanile.

Juvenile rheumatoid arthritis is a chronic disease, with the synovium as the target tissue. We made 594 US examinations of the knee in 240 children (mean age: 9 years) with juvenile rheumatoid arthritis. All patients underwent at least one US exam and 156 patients underwent many US examinations during 3 years' follow-up. In our series mean synovial thickness was 6 mm (range: 2.5-11 mm) while in normal subjects mean synovial thickness is 2.7 mm (range: 1-4.5 mm). The mean thickness of the suprapatellar bursa was 9 mm (range: 4-18 mm) versus 2.8 mm (range: 1-5 mm) in normal subjects. The mean length of the suprapatellar bursa was 27 mm (range: 13-44 mm) versus 14.3 mm (range: 8-23.5 mm) in normal children. Cartilage thickness was 3.3 mm (range: 1.2-5.8 mm) at the intercondylar notch, and 3 mm (range: 0.8-5.3 mm) at the femoral condyles. Cartilage thickness is 3.5 mm (range: 2-6 mm) at the intercondylar notch, and 3.2 mm (range: 1.8-5.4 mm) at the femoral condyles in normal subjects. The articular cartilage outline was blurred in 36% of patients with active knee involvement. A Baker cyst was found in 24 patients (10%). The mean volume was 3 ml (range: 1-40 ml). No tendinous alterations were observed. Changes in synovial membrane (synovial thickness), the presence of fluid in the suprapatellar bursa, and blurring of the articular cartilage outline showed statistically significant differences between juvenile rheumatoid arthritis patients with active knee involvement and subjects in clinical remission. On the contrary, articular cartilage thickening or thinning showed no statistically significant differences between juvenile rheumatoid arthritis patients with active knee involvement and subjects in clinical remission. In conclusion, US is a simple, rapid, inexpensive and accurate method for the staging and follow-up of joint inflammation in patients with juvenile rheumatoid arthritis of the knee.

[Echographic diagnosis of thyroid hemiagenesis]. / Diagnosi ecografica di emiagenesia tiroidea. Descrizione di due casi.

Thyroid hemiagenesis is a rare anomaly with an uncertain incidence, since some patients have been found in a euthyroid state without abnormalities. Females account for 75% and males account for 25% of the cases, giving a female to male ratio of 3:1. The left lobe is absent in 80% of cases and the right lobe is absent in 20% of cases (a left to right hemiagenesis ratio of 4:1). The isthmus is absent in 50% of the patients. A variety of pathological conditions have been found in the remaining thyroid tissue in association with thyroid hemiagenesis: hyperthyroidism, multinodular goiter, hypothyroidism, benign adenoma, adenocarcinoma, Grave's disease. The differential diagnosis would include unilateral inflammatory disease and infiltrative disease, such as amyloidosis. We present two cases diagnosed in pediatric age, with absence of the left lobe and of the isthmus. Thyroid hemiagenesis has been found in association with congenital hypothyroidism in one case. The other patient was found to be in a euthyroid state without abnormalities. The diagnosis of thyroid hemiagenesis should be considered in any patients where, on physical examination, no apparent thyroid tissue is noted on one side of the neck. Sonography demonstrates an absent lobe, an eventually absent isthmus, and an eventually coexiting pathological condition in the remaining thyroid tissue. Sonography may be useful in distinguish between unilateral thyroiditis or other infiltrative processes and true hemiagenesis. Scintigraphy shows the remaining thyroid tissue uptake, and may reveal ectopic thyroid tissue not seen by ultrasound. Ultrasound may be useful in monitoring asymptomatic patients according to the high frequency of pathological condition associated with thyroid hemiagenesis.

[Ultrasonic diagnosis of "hematoma" of the sternocleidomastoid muscle]. / Diagnosi ecografica di "ematoma" del muscolo sterno-cleido-mastoideo.

Fifty-five patients (38 and 17), whose age ranged 14 to 153 days, with a clinical suspicion of sternocleidomastoid mass, were examined with US. Neck movements were impaired in all patients and 6 of them exhibited no clinically palpable mass. Sternocleidomastoid masses were detected in 50 patients. Other neck masses (lymphadenopathy, neuroblastoma, lymphangioma) were demonstrated in the remaining 5 patients. US sensitivity was confirmed to be higher than that of clinical palpation in detecting the masses. Our results show that males (69%) and the right side (80%) were mostly affected. The sternal head (92%) and the lower third of the muscle (88%) were most commonly involved. Forty-four masses (88%) had homogeneous echostructure and their echogenicity relative to normal muscle was mostly isoechoic in 33 patients (66%) and hyperechoic in 11 patients (22%). Six masses (12%) had a patchy echotexture and mixed echogenicity. No cases of mostly hypoechoic echotexture or intralesional calcifications were observed. The mass to muscle ratio in the largest transverse sections ranged 25-175% (mean: 95%). Sternocleidomastoid masses disappeared in all 50 patients within their 6th month of age. US is confirmed as a valuable tool to diagnose and follow-up sternocleidomastoid masses.

[Ultrasonographic aspects of Sinding-Larsen-Johansson disease]. / Aspetti ultrasonografici della malattia di Sinding-Larsen-Johansson.

Sinding-Larsen-Johansson disease affects the patellar tendon in its attachment to the patella. It is quite frequent in adolescents, especially in young males practising sporting activities. The diagnosis is mainly clinical. The presence of tenderness and localized swelling of the lower pole of the patella are characteristic of the disorder. We analyzed three patients with Sinding-Larsen-Johansson disease. Ultrasound gave complete informations about the involvement of bone, cartilage and patellar tendon. In these patients the lower pole of the patella appeared irregular, fragmented, with swelling of the cartilage and thickening at the insertion of the patellar tendon. Ultrasonography is also suitable for periodical follow-up the course of the disease.

[Ultrasonographic findings in Osgood-Schlatter disease]. / Aspetti ultrasonografici della malattia di Osgood-Schlatter.

The Osgood-Schlatter disease affects the patellar tendon in its attachment to the tibial tuberosity. It is quite frequent in adolescents, especially in young males practising sports. Its diagnosis is mainly clinical. The findings of tenderness and focal swelling of the tibial tuberosity are typical of this condition. The Osgood-Schlatter disease can damage bone, cartilage, tendon and serous bursa. US yields complete information on the involvement of these structures. High-resolution US of the knee was performed on 70 patients with clinically suspected Osgood-Schlatter disease. More or less apparent cartilage swelling was demonstrated in 100% of our patients, tibial tuberosity fragmentation in 75%, diffuse thickening of the patellar tendon, at times inhomogeneous, in 22% and finally bursitis of the infrapatellar bursa was demonstrated in 17% of our patients. US provides complete information on the involvement of the tibial tuberosity and of the surrounding soft tissues, thus proving to be a simple and reliable method to diagnose the Osgood-Schlatter disease. Moreover, US is suitable for the periodical follow-up of disease course.

[Persistent multiple urachal complex. Echographic-surgical correlations]. / Complesso uracale multiplo persistente. Correlazione ecografico-chirurgica.

Urachus is a tubular structure lined between foetal bladder and the umbilicus and is susceptible to complete or partial involution after birth. Persistence of the urachus results in a wide spectrum of anomalies: patent urachus, vesicourachal diverticulum, urachal sinus and cysts are more frequently seen than rare multiple urachal remnants. This kind of pathology focuses the problem of differential diagnosis (tumours, omental and ovarian cysts, vesical diverticulum or duplication) and may be complicated by a superinfection. The Authors discuss a bizarre multiple urachal remnant, presenting with urinary tract symptoms, which may be clinically confused with acute appendicitis or Meckel's diverticulitis. Contribution of sonography for a complete diagnosis is stressed, such as the precise correlation with surgical findings.

[Congenital valves of the ureter. Comments on 7 cases studied in childhood]. / Le valvole congenite dell'uretere. Considerazioni su 7 casi studiati nell'età pediatrica.

Ureteral valves are a rare cause of congenital obstructive uropathy in pediatric age. Symptoms onset is variable and depends directly on the degree of valvular obstruction. Seven cases of ureteral valves were studied in the Radiology Department of "Bambino Gesù" Pediatric Hospital in Rome; every type of technique available in the hospital was employed. For each case, the authors carefully describe the clinico-radiological approach which led to the diagnosis of obstruction due to the presence of one or more valvular structures (hydronephrosis). Intravenous urography proved to be the most sensitive examination to confirm the diagnosis of suspected obstruction made on the basis of US findings, and to assess its precise location. Segmental ascending pyelography was also employed, which consists in cystoscopically inserting a ureteral catheter into the renal pelvis, and then administering a contrast medium which allows the fluoroscopic visualization, both above and below the stricture, of the ureteral segments. The technique also allows the detection of other valves of the same ureter not otherwise recognizable. All 7 patients underwent surgery; follow-up at 12 months demonstrated clinical symptoms regression and a good functional and morphological recovery of the involved ureter.

[The echographic diagnosis of Candida albicans cystitis in childhood]. / Diagnosi ecografica di cistite da Candida albicans in età pediatrica.

Candida albicans infections are opportunistic and range from asymptomatic infections to life-threatening involvement, with a wide spectrum of clinical manifestations. Urinary tract involvement is usually secondary to systemic infection, although the kidney or the bladder may be primarily infected without other organs being involved. Renal fungus infections, most commonly due to Candida, are usually seen in patients with altered host resistance due to diabetes, malignancy, other chronic illnesses, or prolonged antibiotic, corticosteroid or immunosuppressive therapy. Herein we report on an immunosuppressed 12 years-old girl with Candida albicans cystitis diagnosed with US. Sonography demonstrated a discrete dense fluid-fluid interface within the bladder, mobile with changes in position. US was used to monitor the progress of therapy. Treatment is usually conservative, related to removing the precipitating factors (catheters, antibiotics, steroids). Indeed, in our case, the immunosuppressed patient needed aggressive therapy: i.v. fluconazole. Sonography 15 days after treatment showed a normal bladder, without significant sequelae or the formation of vesical concretions.

Postaxial acrofacial dysostosis or Miller syndrome. A case report.

A case of postaxial acrofacial dysostosis (Miller syndrome) is presented. This rare syndrome is essentially characterized by a Treacher-Collins-like facial appearance together with absence of the fifth digital ray of all limbs and variable forearm hypoplasia.