Hypoceruloplasminemia: an unusual biochemical finding in a girl with Hashimoto's thyroiditis and severe hypothyroidism

Clinical picture of Hashimoto's thyroiditis (HT) may significantly vary in pediatric age, ranging from euthyroidism to subclinical hypothyroidism or hyperthyroidism; only rarely HT presentation may be characterized by a severe hypothyroidism also in pediatric age. Here we describe a 3-year-old Caucasian girl who was admitted to our Clinic due to pericardial effusion, muscle weakness and weight gain. At clinical examination, she presented with bradycardia, pale and round face, pseudohypertrophy of calf muscles and no pitting edema of the limbs. Routine blood investigations showed high serum aspartate and alanine aminotransferase levels, low serum ceruloplasmin without clinical signs of Wilson's disease, dyslipidemia. Thyroid function tests revealed a picture of severe hypothyroidism associated with HT. After the replacement treatment with L-T4, thyroid-stimulating hormone serum levels gradually decreased, with concomitant resolution of pericardial effusion and normalization of ceruloplasmin levels

Amenorrea primaria in una adolescente con iperprolattinemia: mancato riconoscimento di una sindrome di Turner

We report a case of a 14-year-old girl with primary amenorrhoea and hyperprolactinaemia. One year treatment with cabergoline – a dopamine agonist – caused a significant reduction in serum prolactin (PRL) concentration without a normalisation of menstrual cycle. After our examination, Turner’s syndrome (45X0/46XY mosaicism) was diagnosed. Turner’s syndrome (TS) is characterised by short stature, streak gonads, infertility, and hearth and kidney malformations. The presence of Y chromosome fragments in patients with TS is known to increase the risk of gonadoblastoma. The patient underwent prophylactic gonadectomy and received substitutive estrogenic therapy

Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children

Abstract Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. It is characterized by the association of multiple autoimmune diseases, with a classical triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years with the apparence of new entities. One of these novel manifestations is the chronic inflammatory demyelinating polineuropathy (CIDP), that is characterized by involvement of peripheral nervous system, with nerve demyelination, progressive muscular weakness of both arms and legs and sensory loss. The identification of myelin protein zero as an important autoantigen (Ag) in CIDP may suggest the development of Ag-based therapies, such as Ag-specific DNA vaccination or infusion of Ag-coupled cells

epidemiological pathophysiological and clinical peculiarities of graves disease in children with down and turner syndrome a literature review

Aim: to describe the salient relationships between Graves' disease (GD) and both Turner syndrome (TS) and Down syndrome (DS). Design: to conduct a secondary analysis of current literature on this topic. Results: 1) the prevalences of GD in TS and in DS young patients are 1.7% and 6.5‰, respectively, i.e. higher than that in pediatric general population (around 1‰); 2) in both these chromosomopathies GD presentation is often preceded by Hashimoto's thyroiditis (HT) antecedents; 3) in both TS and DS, GD presents with a clinical picture very similar to that observed in GD patients without these chromosomopathies; 4) in TS, clinical course of GD under pharmacological therapy is very similar to that observed in non-TS girls; 5) in DS, clinical course of GD under pharmacological therapy is less severe than that in non-DS patients. Conclusions: in the children with either TS or DS, GD is characterized by two common epidemiological peculiarities, i.e. increased prevalence rate and elevated frequency of HT antecedents

Atypical Presentation of Chronic Granulomatous Disease in a Child

Chronic granulomatous disease is a rare, inherited immunodeficiency caused by deletions or mutations in genes that encode subunits of the NADPH oxidase complex. The pattern of chronic granulomatous disease inheritance can be X-linked (about 70% of cases) or autosomal recessive. The basic defect lies in phagocytic cells (neutrophils and monocytes) which fail to effectively destroy invading bacteria and fungi. Also, a dysregulated immune response, characterized by extensive granulomatous inflammation of visceral organs, develops in patients. This immunodeficiency is characterized by repeated suppurative infections mainly located in the lungs, skin, and lymph nodes, but also affecting other organs. The major agents involved in the infections are catalase positive bacteria, mycobacteria, fungi, and other opportunistic germs. Diagnosis is based on clinical suspicion and confirmed by nitroblue tetrazolium test or flow cytometry that demonstrate the inability of phagocytes from affected individuals to produce superoxides. The treatment of chronic granulomatous disease involves, in addition to general care such as the prevention of infections and vaccinations, the use of sulfamethoxazole–trimethoprim in combination with itraconazole for prophylaxis. We report the case of a 3-year-old boy with medical history of recurrent respiratory infections, anemia, growth failure, elevated inflammatory markers and occasional rectal bleeding. He was admitted to our department for a suspected chronic bowel inflammatory disease. Clinical history, lymph nodes involvement and the discovery of intestinal granulomas on biopsies confirmed the diagnosis of chronic granulomatous disease

An unusual evolution of pneumonia in a child

Pleural empyema represents a severe complication of community acquired pneumonia with an incidence of 0.6% among hospitalized children.  Clinical manifestations of picture may be different in infants and young children and it should always be suspected in a child with pneumonia without significant clinical improvement after 48 hours of antibiotic treatment.  The most common microorganism associated with empyema is Streptococcus pneumoniae, especially in children under 5 years of age. Chest radiograph is the gold standard for diagnosis but chest ultrasonography,  and in some cases chestCT,  may be necessary to study features and evolution of the pleural fluid in order to guide therapeutic choices.  In most cases small pleural empyema responds to antibiotics alone. However in severe and extensive cases, drainage and invasive treatments, like video-assisted thoracic surgery (VATS) and thoracotomy, became necessary.  Due to the early start of antibiotic therapy, blood and pleural fluid cultures may result negative; in these cases only the use of molecular techniques, like polymerase chain reaction in biological fluids, may determine the etiology of the infection.  Here we report the case of previously healthy 8-years-old boy with an important and severe pleural empyema as a complication of S. Pneumoniae pneumonia, that did not respond to antibiotic therapy and thoracocentesis and for which decortication has been necessary. In our patient only molecular analysis on pleuric fluid has allowed us to define the etiology of the process

Gastroparesis in Adolescent Patient with Type 1 Diabetes: Severe Presentation of a Rare Pediatric Complication

Gastroparesis is a long-term complication of diabetes related to autonomic neuropathy. It is characterized clinically by delayed gastric emptying and upper gastrointestinal symptoms, including early satiety, postprandial fullness, nausea, vomiting, and abdominal pain. Gastric emptying scintigraphy is the gold standard for diagnosis as it reveals delayed gastric emptying. Therapeutic strategies include dietary modifications, improvement of glycemic control, and prokinetic drugs. Case descriptions of diabetic gastroparesis in pediatric ages are very scarce. We report the case of a 16-year-old adolescent with severe presentation of diabetic gastroparesis. She presented with recurrent episodes of nausea, vomiting and abdominal pain which led progressively to reduced oral intake and weight loss. Her past glycemic control had been quite brittle, as demonstrated by several hospitalizations due to diabetic ketoacidosis and recurrent episodes of severe hypoglycemia. After the exclusion of infectious, mechanical, metabolic, and neurological causes of vomiting, a gastric emptying scintigraphy was performed, leading to the diagnosis of gastroparesis. Treatment with metoclopramide was started with progressive relief of symptoms. To improve glycemic control, insulin therapy with an advanced hybrid, closed loop system was successfully started. Pediatricians should consider diabetic gastroparesis in children and adolescents with long-standing, poorly controlled diabetes and appropriate symptomology

Defective Autoimmune Regulator-Dependent Central Tolerance to Myelin Protein Zero Is Linked to Autoimmune Peripheral Neuropathy

Chronic inflammatory demyelinating polyneuropathy is a debilitating autoimmune disease characterized by peripheral nerve demyelination and dysfunction. How the autoimmune response is initiated, identity of provoking Ags, and pathogenic effector mechanisms are not well defined. The autoimmune regulator (Aire) plays a critical role in central tolerance by promoting thymic expression of self-Ags and deletion of self-reactive T cells. In this study, we used mice with hypomorphic Aire function and two patients with Aire mutations to define how Aire deficiency results in spontaneous autoimmune peripheral neuropathy. Autoimmunity against peripheral nerves in both mice and humans targets myelin protein zero, an Ag for which expression is Aire-regulated in the thymus. Consistent with a defect in thymic tolerance, CD4(+) T cells are sufficient to transfer disease in mice and produce IFN-γ in infiltrated peripheral nerves. Our findings suggest that defective Aire-mediated central tolerance to myelin protein zero initiates an autoimmune Th1 effector response toward peripheral nerves

Pediatric tuberculosis in Italian children: Epidemiological and clinical data from the Italian register of pediatric tuberculosis

Tuberculosis (TB) is one of the leading causes of death worldwide. Over the last decades, TB has also emerged in the pediatric population. Epidemiologic data of childhood TB are still limited and there is an urgent need of more data on very large cohorts. A multicenter study was conducted in 27 pediatric hospitals, pediatric wards, and public health centers in Italy using a standardized form, covering the period of time between 1 January 2010 and 31 December 2012. Children with active TB, latent TB, and those recently exposed to TB or recently adopted/immigrated from a high TB incidence country were enrolled. Overall, 4234 children were included; 554 (13.1%) children had active TB, 594 (14.0%) latent TB and 3086 (72.9%) were uninfected. Among children with active TB, 481 (86.8%) patients had pulmonary TB. The treatment of active TB cases was known for 96.4% (n = 534) of the cases. Overall, 210 (39.3%) out of these 534 children were treated with three and 216 (40.4%) with four first-line drugs. Second-line drugs where used in 87 (16.3%) children with active TB. Drug-resistant strains of Mycobacterium tuberculosis were reported in 39 (7%) children. Improving the surveillance of childhood TB is important for public health care workers and pediatricians. A non-negligible proportion of children had drug-resistant TB and was treated with second-line drugs, most of which are off-label in the pediatric age. Future efforts should concentrate on improving active surveillance, diagnostic tools, and the availability of antitubercular pediatric formulations, also in low-endemic countries