Hidden familial cardiomyopathies in children: Role of genetic testing.

Pediatric cardiomyopathies harbour significant phenotypic and genetic heterogeneity. Genetic testing is essential for the initial evaluation and the ongoing care of child and family, although challenges remain regarding its appropriate clinical implementation in minors. We here discuss the key role of genetic diagnosis in the clinical management of two patients.

Bilateral renal artery stenosis in Kawasaki disease: a report of two cases.

We report two cases, a boy and a girl, who developed severe renal hypertension over sub-acute phase of Kawasaki Disease (KD). Paediatricians should be alert to consider preceding KD as potential source of secondary hypertension in young infants, and raised blood pressure should be regarded as a life-threatening complication in all KD children.

Incidence of occult cancer in children presenting with musculoskeletal symptoms: a 10-year survey in a pediatric rheumatology unit.

OBJECTIVES: To assess the frequency and types of cancer found in children presenting to our Unit with musculoskeletal symptoms over a 10-year period. METHODS: The medical records of patients with musculoskeletal symptoms and a final diagnosis of cancer were reviewed. In each case age, gender, presenting symptoms, laboratory data, diagnostic procedures, provisional and final diagnoses, and time between clinical onset and correct diagnosis were reviewed. RESULTS: An underlying neoplasia was found in 10 of 1,254 patients (<1%) complaining of musculoskeletal symptoms. The types of malignancies found included acute lymphocytic leukemia (ALL) (6 cases), lymphoma (2 cases), neuroblastoma (1 case), and Ewing's sarcoma (1 case). The mean time between disease onset and final diagnosis was 3.2 months. The most common presenting feature was monoarthritis, involving the larger joints such as the elbows, knees or ankles. Juvenile idiopathic arthritis (JIA) was the most frequent provisional diagnosis. In the preliminary hematologic evaluation, eight patients had an increased erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP) value. White blood cell (WBC) count was normal in almost all children, with a normal differential count. Lactic dehydrogenase (LDH) was raised in all children. Bone marrow aspirates and lymph node or bone biopsies were necessary to reach the final diagnosis. CONCLUSIONS: A malignancy should always be excluded in children with musculoskeletal symptoms, especially when the clinical pattern is not characteristic of a specific rheumatic disease. Routine laboratory tests may be misleading. The simultaneous presence of high LDH or alpha-hydroxybutyric dehydrogenase (alpha-HBDH) levels and raised ESR or CRP, even with normal blood cell counts, should lead to additional investigations. RELEVANCE: All patients presenting with arthritis or other musculoskeletal symptoms should have a thorough clinical examination. Disproportionate pain levels and an atypical pattern of "arthritis," especially in the presence of systemic manifestations, suggest a possible underlying malignancy.

Recurrent monoarthritis in an 11-year-old boy with occult coeliac disease. Successful and stable remission after gluten-free diet.

A case of occult coeliac disease (CD) presenting with recurrent monoarthritis in a boy aged 11 years is reported. The case is unique due to the association of occult untreated CD and arthritis in childhood. Peripheral or axial arthritis as a first manifestation of occult CD has been described in adult patients, with an interval between the arthritis and CD of up to 15 years. In our case the interval between the appearance of arthritis and the diagnosis of CD was 2 years. The boy was asymptomatic for bowel disease and his nutritional status was normal. The diagnosis of CD was established using anti-gliadin (AGA) and anti-endomysium (EMA) antibody tests and was confirmed by small bowel biopsy. The introduction of a gluten-free diet resulted in the persistent remission of arthritis. As the treatment of CD-associated arthritis is based on dietary therapy, physicians should be alert to the possibility of occult CD in any child with arthritis of unclear origin.

Kawasaki's disease in northern Italy: a multicenter retrospective study of 250 patients.

OBJECTIVE: 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. RESULTS: 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. CONCLUSION: 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.

[Hematuria due to an unusual cause in an adolescent]. / Ematuria da causa insolita in un adolescente.

The authors describe a case of haematuria due to the von Willebrand disease. The purpose of this article is to stimulate the performing of coagulation tests in patients with a pre-renal haematuria.

[The abuse of anabolic substances by an adolescent going in for sports]. / L'abuso di sostanze anabolizzanti nell'adolescente che fa sport.

The authors describe the case of an elder adolescent who showed an imposing symptomatology due to the abuse of anabolic drugs. They urge the pediatricians to warn their patients about the use of such drugs.

[Adolescent emergencies: the need for active prevention to the spread of STDs (sexually transmitted diseases)]. / Emergenza adolescenti: la necessità di fare una prevenzione attiva alla diffusione delle M.S.T. (malattie sessualmente trasmesse).

The authors suggest a program of diffusion of posters which invite young adolescents to pay attention to the symptoms of the S.T.D. They suggest also to found a telephone line where the adolescent can call for any problem or question.

[Adolescents and the conflict between generations. The role of the pediatrician]. / Gli adolescenti e il conflitto generazionale. Il ruolo del Pediatra.

In the period of adolescence the problems due to diseases go down and those due to the personality of young boys and girls increase. While the former can be cured by drugs, the latter need much reflection and help from Pediatricians.

[Gastroduodenal stress ulcer. A pediatric case report]. / L'ulcera gastroduodenale da stress. Descrizione di un caso pediatrico.

The Authors describe a case of a post rubella encephalitis in a six year old child complicated by severe haemorrhagic episodes due to a duodenal stress ulcer. Despite H2 receptors antagonist therapy, surgery has been required to control the repeated bleeding episodes.

[Prevalence of anti-HAV antibodies (hepatitis A virus) in 18-year-old males from the Florence area]. / Prevalenza degli anticorpi anti HAV (virus dell'epatite A) in maschi di 18 anni di età nell'area fiorentina.

In 1998 sera from 430 18 year old male subjects living in "Florentina area" have been tested for anti-hepatitis A virus (HAV) antibodies. 27 out of 430, (6.2%), study samples were found to be positive. Our results confirm the low circulation rate of HAV in Florence area.

[New problems of adolescents: perspectives for the intervention of the pediatrician]. / Le nuove problematiche adolescenziali: prospettive per l'intervento del Pediatra.

The Pediatrician is daily in contact with a large number of adolescents, and therefore is able to recognize those who display behavioural problems. The Pediatrician is often asked for advice in order to solve practical problems such as the choice of school, the practice of sports, ecc. His advice is somehow conditioned by his previous experiences as an adolescent and, if he is a parent himself, by his present familial situation. In the last years, the problems of the adolescents and the fears of their parents have changed, the main concern being today the one for work, due to the high levels of unemployment and underemployment affecting our society. In this situation, some of the most frequent attitudes of parents towards adolescents seem to be erroneous, such as asking them for social success at any cost (e.g. attending unwelcome studies or performing inappropriate sports). This leads to failures that often prove to be unbearable for young people not trained to face and overcome frustration. Parents also seem often to underestimate the possibility of their own "child" being involved in episodes of hooliganism, shoplifting, violence like the ones daily described by the media. The excessive idealization of adolescents by their parents seems to be one of the main causes of this situation. The Pediatrician can intervene with advice, in order to orientate adolescents towards realistic life objectives and a satisfactory development of their personality.

[Kawasaki disease: clinical characteristics and cardiovascular involvement in a cohort of 121 patients]. / Malattia di Kawasaki: presentazione clinica, evoluzione e interessamento cardiocircolatorio in una coorte di 121 pazienti.

Kawasaki disease is an acute generalized self-limiting vasculitis of small and medium size arteries of unknown ethiology, mostly affecting children younger then 5 years of age. Coronary arteries may be involved with aneurysms lesions, thrombotic occlusion, acute coronary syndrome and sudden death. The mortality rate has been significantly reduced by combined therapy of intravenous immunoglobuline (IVIG) and acetil salicylic acid (ASA) from 3% to 0.2%. From February 1986 to November 2001, 121 children, 76 male and 45 females with Kawasaki disease, have been observed at the Paediatric Department, University of Florence. Coronary changes (i.e. coronary ectasia and coronary aneurysms) have been observed in 22.3%. In only one 3-months old child, giant aneurysms of coronary arteries and myocardial necrosis have been detected. In 26 of 27 children at 2D echo a remodelling of the coronary changes within 12 months from the onset of the illness was observed. The mean follow-up has been five years (range 6-138 months) and in no patient further cardiac manifestations have been observed; however, as little is known about the progression of vascular damage, a more protracted follow-up is needed.

[Evaluation of pediatric patients hospitalized for acute diarrhea from 1990 to 1996]. / Valutazioni su pazienti pediatrici ricoverati per diarrea acuta dal 1990 al 1996.

Infectious diarrhea is a common disorder in children in Italy, which may lead to hospitalization especially during infancy. In order to obtain data about epidemiology and clinic pictures of acute diarrhea, the carts of 1295 paediatric outpatients, hospitalized for this pathology in the time between 1990-1996 at the Children's Hospital "Meyer" of Florence, were analyzed. An offending organism could be isolate in 43.3% of patients; Rotaviruses are the leading cause of diarrhea, followed by salmonella spp. Furthermore the role of Campylobacter as common bacterial pathogen worldwide has been clarified.

[Visceral leishmaniasis in children in the province of Florence]. / La leishmaniosi viscerale in età pediatrica in provincia di Firenze.

Three cases of visceral leishmaniasis are presented: two children who got the disease in Florence and the imported case of a girl coming from Albania with her disease in act. The diagnosis was made showing Leishmania in bone marrow specimen. Therapy with melglumine antimonate was effective and well borne, leading the three children to a complete healing. In the province of Florence visceral leishmaniasis is very rare, but such protozoa and the sand flies are present as shown by the high number of dog with leishmaniasis.

[Infantile acute hemorrhagic edema (IAHE). A report of a new clinical case]. / Edema Emorragico Infantile Acuto (EEIA). Descrizione di un nuovo caso clinico.

The authors describe a new case of infantile acute haemorrhagic oedema in a six-month-old child. Even being a vasculitis the authors do not retain to assimilate it to the Schönlein-Henoch syndrome.

[The risk of infection after a tick bite in an endemic area. The experience of the use of an effective protocol on a cohort of Tuscan children]. / Rischio di infezione dopo puntura di zecca in una zona endemica. Esperienza sull'applicazione di un protocollo operativo su una coorte di bambini toscani.

The authors suggest an executive protocol for the infections due to the sting of a tick in a child. They report the experience they had observing 92 children in the period between spring and autumn in the year 1996.

[Subdural effusion during bacterial meningitis]. / Versamento sottodurale in corso di meningite batterica.

Twelve children of age ranged from 4 to 34 months with Haemophilus influenzae type b meningitis treated at Meyer Hospital of Florence, were retrospectively reviewed. Eight patients had subdural effusion demonstrated with TC, RM and transfontanellar ultrasonography. All patients are cured without sequelae.

[Emergency laboratory in the pediatric module]. / Il Laboratorio di Urgenza nel modulo pediatrico.

The emergency in the laboratory is a serious problem. The Authors, starting from management evaluations, try to analyse the problems related to the urgent examinations in the Laboratory of a Pediatric Hospital. They propose executive ways for the best working of the same laboratory.

[Urine analysis in a pediatric laboratory using reagent strips read visually (visual dip sticks)]. / L'esame delle urine in un laboratorio pediatrico effettuato mediante strisce reattive ad osservazione diretta (dip sticks visual).

The Authors studied the possibility of using some dip sticks visual for urinalysis. One hundred of urine samples have been analyzed at the beginning with the instrumental laboratory analytical system and then with the dip sticks visual; the results put in evidence that there is a real discrepancy as far as glucose is concerned. Glucose is overestimated in dip sticks visual method. Bilirubin, blood and proteins are in a decreasing order the most different items. Concerning to pH the results have been comparable. Specific weight cannot be compared to the laboratory method, on the other hand it can be used for screening. On the whole the Authors are quite satisfied about dip sticks visual method; it can be used in order to accelerate diagnosis and avoid pre-analytical mistakes.