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We report on three cases of infantile Krabbe disease and one case of infantile metachromatic leukodystrophy showing magnetic resonance (MR) imaging findings of diffuse and coexistent cranial nerve and cauda equina nerve roots enhancement. Such findings may be simultaneous, or even precede, typical white matter abnormalities and, in the appropriate clinical context, may facilitate an earlier diagnosis. There is a rational for the use of contrast agents and craniospinal MR imaging during the first imaging of children with a history of psychomotor regression and clinical evidence of peripheral nerve involvement to exclude differential diagnoses.

To evaluate (i) the clinical course and outcome in a cohort of 250 children affected with Kawasaki disease (KD) in northern Italy; (ii) the prevalence of coronary aneurysms and their correlation with treatment; and (iii) the prevalence of incomplete and atypical KD in the series as a whole.The male to female ratio was 1.8 to 1 and the median age at diagnosis 37 months. The majority of cases occurred in children under five years, with the youngest patient aged 51 days. Median duration offever was 8 days; median erythrocyte sedimentation rate (ESR) and C Reactive protein (CRP) values, performed before any treatment, were 77 mm/1st h and 10.4 mg/dl respectively. Median haemoglobin (Hb) levels was 9.2 g/dl and median platelet (PTL) count 408,000/mm3. Out of 250 patients, 209 (83.6%) fulfilled all criteria for the diagnosis of KD whilst 41/250 (16.4%) had an incomplete disease and 11/250 (4.4%) had an atypical onset. Fifty-four children (21.6%) were treated with aspirin alone (50-80 mg/kg/day, during the acute phase), while 196/250 (78.4%) were given aspirin (50-80 mg/kg day, during the acute phase and then 3-5 mg/Kg/day) and high-dose intravenous gammaglobulin (IVIG, 400 mg/Kg/day or 2 g/Kg/day). Coronary artery abnormalities, including aneurysms and dilatation, were reported in 7/54 patients (5 males and 2 females) who had not received IVIG and 53/196 patients (27 males and 26 females) who were treated with the IVIG in addition to aspirin. Other clinical manifestations included abdominal pain/diarrhoea (11), arthritis (10), hydrops of the gallbladder (8), disseminated intravascular coagulation (3), and hemiparesis (1). All patients except one infant are still alive. In most of the patients coronary alterations normalised, while in 20 patients they persisted for more than one year; in 12/20 patients they were permanent.Pediatricians should be aware of the increasing number of children with atypical and incomplete KD, in order to diagnose and treat the disease even in the absence of all typical manifestations and to prevent coronary complications.

We report a series of 22 children with idiopathic, drug unrelated erythema nodosum (EN) admitted to our Department. In 5 of them an history of streptococcal pharyngitis was referred; the remaining patients came to us with a diagnosis of "EN of unknown origin". Acute phase reactants, immunoglobulins, stool alpha1 antitrypsin, ANA, anti dsDNA antibodies and ANCA assay, chest roentgenogram, tuberculin test, and ophthalmologic assessment were performed in all patients. Etiologic diagnosis was made in 16 patients: Streptococcal pharyngitis (5 cases), chronic inflammatory bowel disease, IBD (3 cases), Behcet syndrome (2 cases), Yersinia enteritis (2 cases), infectious mononucleosis, atypical mycobacterial infection, immunodeficiency related infection, and SLE-like syndrome due to C4 deficiency (1 case each). We found oral/scrotal aphthae in 3 cases, gastrointestinal symptoms in 5 cases, arthritis in 3 cases. Acute phase reactants were positive in 16 patients without correlation to the underlying disease. Conversely, the increased alpha1 antitrypsin stool excretion and IgA serum concentration seemed to represent helpful indicators of IBD and Behcet syndrome, respectively. Proinflammatory cytokine pattern showed increased IL6 serum concentrations both in infectious and in non infectious disease-related EN, whereas a minor involvement of TNF was found in these patients.

In children with Wilson's disease, no clinical or laboratory data are specific for diagnosis as in adult age.Clinical aspects and parameters of copper metabolism in a large series of pediatric cases are evaluated to establish certain criteria for diagnosis and for correct treatment, even in difficult cases.In 44 children with Wilson's disease, clinical aspects, histological features, laboratory parameters and data of copper metabolism have been studied. Forty patients, treated with penicillamine, were followed up (median 77 months).The 44 cases were classified as: asymptomatic forms (nine cases, six of them siblings of affected subjects), chronic hepatitis (23 cases), hepatocerebral manifestations (four cases), decompensated cirrhosis (six cases), fulminant hepatic failure with hemolytic anemia (two cases). Ceruloplasmin levels were abnormal in 37 out of 43 tested cases, but normal in six (14%) who showed high basal and after penicillamine load urine copper excretion and increased hepatic copper content. Urine copper concentration was pathological in 35 out of 42 tested cases (83%), but normal in seven patients under six years. Hepatic copper levels were very high in all the 20 tested patients. Under treatment, 27 children had favourable outcome. One patient showed no evolution of disease, seven patients worsened because of non-compliance to the therapy (one underwent successful liver transplantation) or severe side effects. Five patients with failure died.Wilson's disease in children may present with a broad clinical spectrum, but the liver involvement is by far the most prevalent. The early diagnosis, based on clinical suspicion and results of copper metabolism investigation (including hepatic copper content evaluation in difficult cases) and appropriate treatment can prevent the progression of the disease.

We are currently witnessing a worldwide return of tuberculosis. An extremely rare form is tuberculosis of the spine which is reported above all in extra-European studies. The authors report a case of Pott's disease in a child aged 3 years and 3 months who was referred to their attention due to the appearance of left inguinal swelling, fever and anemia. Diagnostic tests (ETG, CT, MR) showed an abscess involving the L5-S1 intersomatic space, the intervertebral disc and osteolytic lesions of S1, with impairment of the left psoas muscle and diffusion as far as the inguinal region. Chemotherapy was commenced using isoniazid, ethambutol, rifampicin, and streptomycin and lasted 24 months associated with drainage of the ileopsoas abscess. Conservative orthopedic treatment lasting for one year initially took the form of decubitus in bed with hyperdistension of the vertebral column, followed by the creation of a plaster-cast cot on the back and lastly a glass-reinforced resin orthopedic jacket. The follow-up of 2 years and 10 months showed recovery with reconstruction of the vertebral elements and the preservation of intervertebral space.

Kawasaki disease (KD) is a new, well characterized pediatric syndrome. In this work the last epidemiologic, diagnostic and clinical data are pointed. Especially the heart-disease and its monitoring and therapy are studied. Our casuistry (5 cases in 4 years) is also presented. The international literature and our clinical experience suggest that KD is more spread than we think and therefore in needs to be studied carefully by the pediatricians.

Five children from one to seven years of age with intrahepatic ductular hypoplasia are presented. Clinical and biochemical characteristics of the disease are specifically considered as well as differential diagnosis. In three patients a severe hemolytic anemia, only partially corrected with vitamine E, was present. All subjects received continuous cholestyramine therapy. Variable follow up from nine months to seven years demonstrated persistent intrahepatic cholestasis with hypercholesterolemia in two cases, clinical and biochemical improvement in one case. One child died two years and six months after diagnosis was made an one patient was lost to follow up. The Authors confirm the literature clinic, diagnostic and therapeutic data concerning ductular hypoplasia, while, on the basis of their experience, the prognosis seems poor also in some cases of syndromic ductular hypoplasia.

Studies on the quantitative expression of the Major Histocompatibility Complex (MCH) in hepatocytes chronically infected by Hepatitis B Virus (HBV) report that an increased expression of these antigens could be related to a good immunological response. In the present work we analyze the expression of the MCH antigens in cryostatic sections of liver biopsies taken from subjects (19 children) with various forms of HBsAg positive chronic hepatitis. A high expression of HLA class I antigens and a high degree of hepatocyte necrosis was evident in Chronic Active Hepatitis (CAH) and Chronic Lobular Hepatitis (CLH). On the contrary, subjects with histological diagnosis of Chronic Persistent Hepatitis (CPH) showed a low expression of such antigens. There was however, the difference that in subjects with high hepatic cytolysis and high expression of HLA class I antigens, serum HBV-DNA was clearly present in almost all the cases with CAH, but not detectable in all cases with CLH. The expression of HLA class II antigens and of Beta2 microglobulin was the same in all 19 cases. All cases with HBV-DNA positivity with high class I antigen expression had active hepatitis which seems to suggest that all attempts at viral clearance on the part of the immune system have been in vain. We hope our paper will be an additional parameter for evaluating the course of hepatitis during Interferon treatment.

Fourteen cases of Wilson's disease, 9 of which in pure hepatic form are presented. Earliest clinical sign of liver disease was hepatosplenomegaly with altered indexes of hepatic function. The disease was found in 4 couples of brothers and sisters of families reported. For all cases diagnosis was based on the values of ceruloplasmin, serum copper, basal urine copper and urine copper after D-penicillamine. Furthermore in 8 cases very increased copper concentration in the liver was demonstrated. D-penicillamine therapy produced hepatic improvement in 8 cases, 6 of which affected by only hepatic form and the treatment was fairly tolerated. In 1 case this therapy caused nephrotic syndrome it was replaced with Trien-2HCL. Wilson's disease in its pure hepatic form must be considered in the differential diagnosis of liver diseases in pediatric age, especially when markers of viral hepatitis are absent. The identification of pure hepatic form provides early diagnosis of Wilson's disease, basic requirement for an effective therapy.

The Authors studied the behaviour of ABsAb in a pediatric case-list made up of 8 cases of virus B acute hepatitis, and 63 cases of chronic hepatitis in different evolutive phases: besides, this investigation was extended to 48 healthy carriers (29 of whom bioptically confirmed) and 35 cases of cohabitants with HBsAg-positive hepatic chronic patients. In acute hepatitis the antibody pattern, even if delayed in time, mimics the modalities of the organic response against exogenous stimulations, therefore it constitutes an index of past disease and recovery. In chronic hepatitis (both HBsAg-positive and negative) the specific antibody to the surface antigen is present only at a low percentage (27%) and generally at low titres. In healthy carriers, bioptically ascertained, it is practically absent as to suggest more careful consideration when it turns out present (pseudo-carriers?), while in the cohabitants with virus B patients, especially if chronic, along with HBsAg detection, it consitutes an indispensable element for their classification in patients, ex-patients, not infected and healthy carriers. A very interesting finding, requiring further confirmation, is the unusual behaviour of these antibodies in some cases of relapsed chronic hepatitis.

A killed E. coli 0111:K58 vaccine was administered by the oral route to 16 children ranging from 3 months to 7 years of age. The antibody response was measured at different times after the vaccination through the titration of agglutinating antibodies in serum and in fecal extracts, and the detection of specific IgA immunoglobulins in the intestinal content. All vaccines developed antibody response detectable both inserum and in fecal samples. Coproantibodies tended to appear earlier and to attain higher titers than circulating antibodies; they were all least in part IgA immunoglobulins, since the content of specific IgA in the fecal extracts was proportional to the agglutinating titer.

Variations of the main immunoglobulin fractions in CSF were studied in 79 children with various inflammatory processes of CNS (purulent and viral meningitis, post-infectious meningoencephalitis, polyradiculoneuritis, etc). This study was extended to a group of non-inflammatory neurological diseases. Increased values of CSF immunoglobulins (especially IgG and IgA) were found in the group of purulent meningitis and in the group of post-infectious meningoencephalitis. IgM was detected in very few cases. Generally, a correlation was observed between highest concentrations of CSF immunoglobulins and degree of meningeal inflammatory response, even if this was a component of other neurological diseases. It is suggested that the rise of CSF IgG and IgA may depend upon the CSF-blood barrier damage, as it occurs in most inflammatory diseases studied. On the contrary, a production "in situ" of CNS could explain the presence of cerebrospinal IgM.