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Introduction: Monoallelic microdeletion of chromosome 22q11 (22q11DS) is considered to be the commonest human microdeletion syndrome. Abnormalities of thyroid function are sporadically reported in this syndrome, but very few studies have specifically assessed this issue, and thyroid morphology has not been systematically studied., Design: To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of paediatric and adult patients with 22q11DS., Methods: Thirty patients with 22q11DS (median age 9.7, range 1.5-43.9 years) were studied. In all subjects, serum free-T(3), free-T(4), TSH, thyroperoxidase, thyroglobulin, and TSHr auto-antibodies, as well as thyroid ultrasonographic data, were evaluated and compared with age- and sex-matched healthy control groups, for paediatric and adult patients., Results: Fourteen (46.6%) patients showed thyroid hypoplasia involving the entire gland. In all the patients, the volume of the left lobe of the thyroid was significantly reduced (P < 0.01). Among the subjects with thyroid hypoplasia, 10 out of 14 (71%) showed a concomitant heart malformation, a condition that was present in five (31%) of the subjects with a normal thyroid volume (P < 0.05). Seven (23.3%) cases of subclinical hypothyroidism and one (3.3%) case of overt hypothyroidism were identified. Three (10%) patients were positive for thyroid auto-antibodies. Of the patients with overt and subclinical hypothyroidism, five out of eight (62.5%) patients showed thyroid hypoplasia., Conclusions: This study confirms the presence of alterations of thyroid function in 22q11DS, and also suggests a frequent occurrence of abnormalities in thyroid morphology in these subjects. Patients with 22q11DS should be monitored for thyroid function, and thyroid ultrasound screening should be considered, especially in those patients with changes in thyroid function or congenital heart malformations. The possible relationship between developmental abnormalities in the heart and the thyroid gland should be confirmed.

Objective: To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of patients with Williams syndrome (WS)., Methods: Serum concentrations of free-T3, free-T4, TSH, thyroperoxidase antibodies (TPOA) and thyroglobulin antibodies (TgA), as well as ultrasonographic data, of 20 patients with WS (12 females and eight males), aged 1.7-34.9 years, were evaluated., Results: Three cases (15%) of subclinical hypothyroidism were identified. Overt hypothyroidism was diagnosed in two cases (10%). Thyroid antibodies were negative in all patients. Fourteen patients (70%) showed thyroid hypoplasia involving the entire gland. In these patients, the left thyroid lobe appeared usually, but not significantly, reduced compared with the right thyroid lobe. One patient (5%) showed thyroid hemiagenesis. Only five patients (25%) showed a thyroid with normal volume, and of these five, one patient showed marked thyroid hypoplasia of the left lobe. In all WS patients with diagnosis of subclinical or overt hypothyroidism, thyroid hypoplasia was detected. No cases of subclinical or overt hypothyroidism were found in WS with normal thyroid volume., Conclusions: This study confirms the presence of alterations of thyroid function in WS and also suggests the frequent occurrence of abnormalities of thyroid morphology in these patients. Patients with WS should be monitored for thyroid function and a thyroid ultrasound screening should be considered, especially in those patients with changes in thyroid function.

Multiple hepatic hemangioendothelioma are vascular lesions of the liver that generally appear in the infancy with hepatomegaly, high output congestive heart failure and cutaneous hemangiomas. Many plans for management (steroid, radiation, hepatic artery ligation, embolization, cyclophosphamide) have been proposed. We report a case in two months old boy of hepatic hemangioendothelioma with arteriovenous shunts and heart congestive failure, successfully treated with steroid.

The prevalence of gastroesophageal reflux (GER) in 86 children with respiratory disease (recurrent pneumonia, chronic cough, bronchial asthma) has been evaluated by mean of prolonged (22-24 hours) esophageal pH-monitoring. The following parameters were evaluated: the total percentage of time pH < 4 and the percent time the esophageal pH was < 4 while sleeping. None of the children had gastrointestinal symptoms suggesting GER and no neurological disorder was noted in any of the studied patients. The mean age was 68.98 +/- 46.46 months (range 14-189); 53 (61.6%) males and 33 (38.4%) females were considered in the study. Atopy was evidenced in 42/86 (48.8%) children (total IgE > 2SD in 42/86 and prick tests positiveness in 32/86. A pH-metry indicating pathological GER was present in 52/86 (60.5%) children: 39/62 (62.9%) patients with bronchial asthma, 5/10 (50%) subjects with chronic cough and 8/14 (57.2%) children with recurrent pneumonia. No significant difference in the diagnosis of GER was recorded between atopic or non-atopic patients. The children with abnormal pH-metric recording were also evaluated by upper gastrointestinal series and/or endoscopy. A conventional barium radiology was performed in 44/52 patients and confirmed GER in 19/44 (43.2%). Esophagitis was evidenced in 21/46 (45.7%) studied patients. The presence of esophagitis was significantly (p = 0.032) related to the total percentage of time pH < 4, but the most significant (p = 0.002) association was with the percent time the esophageal pH was < 4 during sleep.(ABSTRACT TRUNCATED AT 250 WORDS)

The classification of chest alterations in Cystic Fibrosis (CF) and related score proposed by Chrispin and Norman has been widely adopted in Europe and is still applied (although slightly modified) in most European Centres. Brasfield classification instead has been mostly used in the USA. Lately, however, to revise both classifications, the need has been felt, for a more precise correlation to anatomo-radiological data as well as for inclusion of headings which have not been taken into account so far. In 1980 one of the Authors (Vichi) worked out a new scoring system for the chest alterations of CF. Results are reported from a follow-up of 15 patients with CF carried out at the FC Centre of Meyer Ospedale in Florence from the late 1981 to 1985. The patients underwent periodic checkings including determination of clinical scoring system-according to Shwachman and Kulczychi modified by Doershuk-respiratory function tests, chest X-rays evaluated by three radiologists separately, following both Chrispin and Norman and Vichi scoring systems. The latter system has proved to be well correlated to clinical data and to the ordinary pulmonary function tests but it mainly presents a high observer reproducibility.

The radiological manifestations of an unusual spondyloepiphyseal dysplasia have been observed in a girl. A peculiar epi-metaphyseal involvement that is "cone shaped epiphyses" appears to be the major feature.

The diagnostic sensitivity of Ultrasound (US) was studied in 142 children with suspected kidney and urinary tract malformations. According to the clinical tests performed the patients underwent excretory urography (EU) and/or voiding cystouretrography (VCU); the results were compared to US findings. In the 75 patients with malformations, US proved to be extremely sensitive in abdominal renal ectopies, in "horseshoe" kidney, and in congenital obstructions of the ureteropelvic and vesico-ureteral junctions. US showed a higher sensitivity than EU in identifying multicystic kidney and in most cases of hypodysplasia. On the other hand, VCU was more accurate in vesico-ureteral reflux studies; US should thus be used in the follow-up of the patients undergoing medical therapy. EU must however be considered as the most important tool in the evaluation of early renal injuries and their possible development.