Simona Santucci

Hashimoto's thyroiditis in childhood: presentation modes and evolution over time

Aim of this survey is to report the most recent views about Hashimoto’s thyroiditis (HT) natural history according to the different presentations. In children presenting with either euthyroidism or subclinical hypothyroidism HT spontaneous course is frequently characterized by a trend towards deterioration of thyroid function, whereas in those presenting with overt hyperthyroidism a definitive resolution of hyperthyroid phase is to be expected. Another possible even though unusual outcome of HT is the conversion to Graves’ disease.

Analysis of the factors affecting the evolution over time of subclinical hypothyroidism in children

Aim of this commentary is to report the most recent views about natural history of subclinical hypothyroidism (SH) according to the different etiologies. In children with idiopathic SH the natural evolution is often favourable, with a high percentage of cases reverting to euthyroidism or remaining SH even after a prolonged follow-up. By contrast, the risk of a significant deterioration of thyroid status is distinctly higher in the SH children with Hashimoto’s thyroiditis (HT). This risk is even higher in the cases with both HT-related SH and chromosomal abnormalities, such as Turner or Down’s syndrome.

Cross-sectional and prospective study of the effects of GH therapy on metabolic panel in children with GH deficiency

BACKGROUND Numerous studies have shown that GH, in addition to promoting linear growth, exerts a key role in many metabolic processes. However, there are only few studies aiming at evaluating the metabolic panel of children with GH deficiency (GHD). The aims of the study were: to verify the presence of metabolic alterations in GHD children in comparison with age-matched controls and to check the possible effects of two year GH therapy on the metabolic parameters in GHD. STUDY DESIGN cross-sectional and prospective; one center experience POPULATION AND METHODS We enrolled 32 pediatric GHD patients (group A) and 33 sex- and age-matched healthy controls (group B). Baseline serum assays (lipid, insulin, glucose) were performed in both groups. GHD children underwent replacement therapy with GH. The same assays were repeated after 12 and 24 months of GH treatment. RESULTS No differences, in basal assays were found between the two groups. In group A, after initiation of GH, there was a significant increase of basal insulin and HOMA- insulin resistance (IR) index (p <0.001). In children with severe GHD (peak GH <3 ng / ml), after beginning of GH therapy a significant improvement in the lipid profile was found (p < 0.05). CONCLUSIONS a) At the time of diagnosis GHD children had a metabolic picture that was not different from non- GHD group; b) in children with severe GHD, the metabolic profile showed a trend towards at improvement after the initiation of replacement therapy with GH, with beneficial effects in terms of total cholesterol, LDL cholesterol and cardiovascular risk indices; c) GHD patients with unfavorable metabolic profile (high BMI and hypercholestorolemia) need a monitoring of glucose metabolism by periodical evaluations of insulin and HOMA - IR.

Peculiarities of autoimmune polyglandular syndromes in children and adolescents

BACKGROUND no reviews have specifically addressed , to now, whether autoimmune polyglandular syndromes (APSs) may have a peculiar epidemiology and phenotypical expression in pediatric ageObjectives: to review the most recent literature data about the specific epidemiological and clinical peculiarities of APSs in childhood and adolescenceDesign: the main features of the different APSs in pediatric age were compared among them. CONCLUSIONS 1) Among the different APSs, the one that is most typical of pediatric age is APS-1; 2) APS-1 is not characterized only by the classical triad (chronic moniliasis-hyposurrenalism-hypoparathyroidism) and its clinical spectrum is enlarging over time; 3)APS-2 may have a different epidemiological and clinical expression according to two different nosological classifications.

Dysphagia as initial manifestation of Guillan-Barrè Syndrome in a child

The occurrence of dysphagia in a child may be a sign of various pathological conditions and mainly gastrointestinal disorders; neurological causes are not very frequent, but they should be taken in to considerations. Etiological diagnosis is important for minimizing related complications. Here we report the case of a 6-year-old girl who was admitted to our Clinic with sudden onset weakness of the limbs and dysphagia. Ph ysical examination revealed hypo-areflexia of both legs and arms and multiple cranial nerve dysfunction. Based on typical clinical course, laboratory investigations and electrophysiological studies, a diagnosis of Guillain-Barre Syndrome (GBS) was assessed. A treatment with intravenous immunoglobulin (IVIG) was immediately started with a progressive recovery of motility and cranial nerve function. An electrophysiological evaluation, performed one month after therapy start, showed slight improvement of neurological symptoms, in particular of the sensitive component. On the basis of our experience we suggest that a GBS should be suspected when d ysphagia is associated with pain and ascending flaccid paralysis of the limbs, in order to prevent a severe complications such as respiratory failure.

Familiar inheritance of X-linked Congenital Adrenal Hypoplasia: even genetic counseling may sometimes fail!

Congenital Adrenal hypoplasia (CAH) is a rare genetic disorder which can present two distinct modalities of transmission: recessive X-linked or recessive autosomal modality. That linked to the X chromosome is generally associated with hypogonadotropic hypogonadism (HH). In this case, the gene responsible is DAX-1. We report the history of an infant 36-days old who was admitted to our clinic complaining of acute adrenal insufficiency (AAI), salt wasting and metabolic acidosis. He was the nephew of one of our patients with X-linked CAH. The main causes of early onset AAI were excluded and on the basis of family history we suspected diagnosis of X-linked CAH. Therefore, replacement therapy with gluco- and mineral-corticoids was started immediately. Molecular analyses confirmed the occurrence of DAX-1 gene mutation F449fsX461. His maternal uncle was already recognized to suffer from this disorder, while his mother, grandmother and maternal aunt carried the DAX-1 mutation in heterozygosis. This case report stress the role of genetic counseling in families with DAX-1 gene mutation

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.

Evans Syndrome: A case report

We describe a case of a 14-years old caucasian female affected by autoimmune hemolytic anemia and thrombocytopenia successfully treated with intravenous immunoglobulin and steroids. Nevertheless, neutropenia occurred during follow-up period. Positivity of direct antiglobulin test and sieric anti-neutrophil antibodies suggested the diagnosis of Evans syndrome trilineage.