0000000000057493
AUTHOR
Saveria Sabrina Ragusa
The Congenital Hypothyroidism Screening Programme in a Sigle Italian Centre: A 5-Years Retrospective Study
Congenital hypothyroidism (CH) occurs in approximately 1:2,000-1:3,000 newborns in Italy. Lowering of the TSH cut-off was the most important factor contributing to the increase of CH incidence in Italy. The aim of this study is the determination of the prevalence of CH in northwest Sicily, evaluated by the single screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo. From January 2013 to December 2017, 79.699 newborns were screened testing TSH from blood spots. The neonates with TSH≥6mU/L were recalled measuring serum fT4, fT3, TSH, anti- TG and anti-TG antibodies, and thyroid echography. To evaluate the effect in lowering the TSH cut-off, we compared the cases of confi…
ISOLATED PYODERMA GANGRENOSUM AND ADALIMUMAB:CASE REPORT IN PAEDIATRIC AGE
Introduction: Pyoderma Gangrenosum (PG) is a sterile neutrophilic disorder, rarely described in children and adolescents, and frequently it is known as secondary to other chronic inflammatory diseases. However, epidemiological, clinical and therapeutic data on paediatric PG are numerically limited and no randomized controlled trials have been published. Associated diseases in paediatric cases are inflammatory bowel diseases, vasculitis, immune deficiencies, PAPA Syndrome. The treatment with systemic steroids and cyclosporine is well documented in the literature as the first-line treatment. In nonresponders, other treatment lines are indicated, as: corticosteroids and mycophenolate mofetil, …
Acute renal insufficiency and pancreatitis in a child with atypical Henoch–Schönlein purpura: efficacy of a single dose of cyclophosphamide
A 9-year-old boy with petechiae on the legs and abdominal pain was unsuccessfully treated with steroids. He was admitted to our hospital for the onset of fever, ecchymosis, and arthralgia. Skin lesions suggested vasculitis, but they were not typical of Henoch–Schönlein purpura. He showed ecchymosis of the scrotal bursa, diffusion of petechiae to the trunk and arms, vomiting, severe abdominal pain, oliguria with hyponatremia, hypoalbuminemia, low C3 levels, high levels of creatinine, blood urea nitrogen, and tubular enzymes, proteinuria, and glycosuria. The urinary sediment showed macrohaematuria, and hyaline and cellular casts. Ultrasound showed polyserositis. He was treated with intraveno…
Neonatal screening for congenital hypothyroidism in an Italian Centre: a 5-years real-life retrospective study
Abstract Introduction Congenital hypothyroidism is an endocrine disease with a significant incidence in the general population (1:2000–1:3000 newborns in Italy) and a different geographical distribution, partially explained by endemic iodine deficiency, genetic traits and autoimmune thyroid diseases. Objectives Aims of this study are: to evaluate the incidence of positive neonatal blood spot screening for CH in western Sicily, identified by the screening centre of the Children Hospital “G. Di Cristina”, ARNAS, Palermo; to evaluate the impact of a lower TSH cutoff in the neonatal blood spot screening for CH. Materials and methods The TSH threshold of the neonatal screening was established as…
Early Treatment of Systemic Juvenile Idiopathic Arthritis with Canakinumab and Complete Remission After 2 Years of Treatment Suspension: Case Report of an Adolescent Girl
Systemic juvenile idiopathic arthritis (sJIA) is an autoinflammatory disease characterised by fever and arthritis. We describe the case of a 14-year-old girl hospitalised with fever associated with rash, myalgia, arthralgia and polyarticular involvement. Examinations revealed increased levels of C-reactive protein, erythrocyte sedimentation rate, ferritin, triglycerides, leukocytes, neutrophils, lactate dehydrogenase, fibrinogen, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT). Bone marrow biopsy showed polyclonal leukocyte activation. A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of…
PANCREATITIS IN HENOCH-SCHONLEIN PURPURA. A SINGLE CENTRE OBSERVATIONAL STUDY
Introduction: Henoch-Schönlein purpura (HSP) is the most frequent vasculitis in children. Typically, it is characterized by palpable purpura, joints swelling, arthralgia, abdominal pain with possible intestinal bleeding. In more severe cases, the patients show acute abdomen. Acute pancreatitis is a rare dramatically evolutive, life-treating manifestation of SHS and it can be associated with a fulminant course. Persistent abdominal pain, need to be investigated by the dosage of serum pancreatic amylase, lipase and by abdominal MRI. In these patients, corticosteroid treatment is recommended and must be associated with parenteral feeding. Objectives: We analysed the full series of children wit…
Idiopathic Seidlmayer's Purpura: A Case Report
Acute hemorrhagic edema of infancy (AHEI) was considered a rare form of Henoch-Schönlein purpura; however, it is now regarded as an independent disease typically involving patients aged 4-24 months. The authors describe the clinical case of a toddler aged 8 months, with skin erythematous pomphoid<b> </b>lesions, treated at home with topical steroids without benefits. The appearance of new lesions and the worsening of the previous skin signs induced the parents to drive the child to the hospital. The medical history revealed the administration of a vaccine dose 2 months before.
Efficacy of Mecasermin Treatment and Long-Term Survival in a Child with Leprechaunism
Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these patients are signed by a high precocious lethality into the first 1-2 years of life. Anecdotical cases are described with a longer survival. We describe the clinical case of a child with Leprechaunism, born from consan…
SHOX Haploinsufficiency in Short and Not Short Children: A Sigle Italian Cetre Data
SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014-2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We selected 6 patients (5 females; 1 male; age: 1.2-11 years), with documented mutations of the SHOX gene or of the promoter. One patient was already treated with low doses of GH for GHD, documented by 2 tests. One patient had type …