Novel sonic hedgehog gene variant in a patient with hyponatremia, microsomia, and midline defects; phenotype description in association with a variant of unknown significance [c.755_757del p.(Phe252del)] and an approach to salt-wasting in SHH-related adrenal disorders.

Objectives: To contribute a novel sonic hedgehog (SHH) gene variant in association with a novel-meagerly described phenotype and discuss SHH signaling pathway pathology.

Case Presentation: We present a 5-year-old boy with excessive hyponatremia and natriuresis, microform holoprosencephaly and microsomia, with morphologically intact hypothalamic-pituitary-adrenal (HPA) axis, and hypoaldosteronism, yet without hyperreninemia, hyperkalemia, dehydration episodes, or glucocorticoid insufficiency. Extensive workup excluded common causes of salt-wasting and revealed a novel variant of unknown significance on the sonic hedgehog (SHH) gene; NM_000193.

Herpes Zoster Ophthalmicus in a Healthy Toddler Fully Immunized Against Varicella-Zoster Virus: A Case Report and Review of Treatment Strategies in Children.

Herpes zoster ophthalmicus (HZO) is a rare presentation of herpes zoster in children; however, it may become chronic and debilitating. The pathophysiology of HZO complications is not completely understood and may include virus virulence, vascular and neural inflammation and immune reactivity. Therefore, clinical experts suggest an antiviral agent combined with topical steroids, but treatment duration and the need for secondary prophylaxis, given the likelihood of recurrence, are not clearly defined.

Obesity as a risk factor for severe influenza infection in children and adolescents: a systematic review and meta-analysis.

Unlabelled: Obesity has been recently identified as a predisposing factor for a worse prognosis in viral illnesses such as SARS-CoV-2; however, its role in children with influenza is not yet clarified. The current systematic review and meta-analysis aims to assess whether obesity is a risk factor for either hospitalization or a worse prognosis when hospitalized among children infected by influenza. We systematically searched the following databases using a structured algorithm: MEDLINE, Clinicaltrials.

Nasal eosinophilia as a preliminary discriminative biomarker of non-allergic rhinitis in every day clinical pediatric practice.

Background: Non-allergic rhinitis (NAR) in children, named local allergic rhinitis (LAR) and non-allergic rhinitis with eosinophilia syndrome (NARES), are recently termed entities in childhood characterized by symptoms suggestive of allergic rhinitis in the absence of systemic atopy. Nasal eosinophils (nEo) are the principal cells involved in the allergy inflammation and nasal allergen provocation test is the gold standard method for the diagnosis, albeit with several limitations. The aim of this study was to validate the presence of nEo in combination with the therapeutic response to nasal steroids, as a preliminary discriminator of NAR in real life data.

Atypical food protein-induced enterocolitis syndrome in children: Is IgE sensitisation an issue longitudinally?

Background: Food Protein-Induced Enterocolitis Syndrome (FPIES) is a clinically well-characterised, non-Immunoglobulin E (IgE)-mediated food allergy syndrome, yet its rare atypical presentation remains poorly understood.

Objective: Aim of this study was to present the 10-year experience of a referral centre highlighting the atypical FPIES cases and their long-term outcome.

Methods: FPIES cases were prospectively evaluated longitudinally in respect of food outgrowth and developing other allergic diseases with or without concomitant IgE sensitisation.

A Rare Case of Measles-Associated Hemophagocytic Lymphohistiocytosis in an Infant.

Measles continues to be a threat in most European countries due to suboptimum vaccination coverage. Although measles leads to several complications, measles-related hemophagocytic lymphohistiocytosis (HLH) has been rarely reported. Herein, we present a case of a four-month-old male infant, the first child of unrelated, healthy parents, with no significant medical history or unexplained infant death in the family, otherwise healthy, who was diagnosed with measles-associated HLH and was successfully treated with IV dexamethasone and IV immunoglobulin (IVIG).

National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality.

National registries constitute an invaluable source of information and contribute to the improvement of hemoglobinopathy management. Herein, we present the second updated report of the National Registry for Haemoglobinopathies in Greece (NRHG) and critically discuss the time trends in demographics, affected births, and causes of mortality. Thirty-eight Greek hemoglobinopathy units reported data from diagnosis to the last follow-up or death by retrospectively completing an electronic form.

The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.

This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient.

Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.

Background: Diamond Blackfan Anemia (DBA) is a rare congenital, bone marrow failure syndrome characterized by normochromic macrocytic anemia, reticulocytopenia and absence or insufficiency of erythroid precursors in normocellular bone marrow, frequently associated with somatic malformations. Here, we present our findings from the study of 17 patients recorded in the Greek DBA registry.

Procedure: Clinical evaluation of patients and data collection was performed followed by the molecular analysis of RPS19, RPL5, and RPL11 genes.

Assessment of iron distribution between liver, spleen, pancreas, bone marrow, and myocardium by means of R2 relaxometry with MRI in patients with beta-thalassemia major.

Purpose: To investigate the correlation between the degree of hepatic, splenic, pancreatic, vertebral bone marrow (VBM), and myocardial siderosis, as expressed by relaxation rate (R2 = 1/T2) values, in patients with thalassemia.

Materials And Methods: R2 relaxation rate values of liver, spleen, VBM, pancreas, and myocardium were estimated in 68 consecutive transfusion-dependent patients with beta-thalassemia major and 10 healthy controls using a respiratory triggered 16-echo Carr-Purcell-Meiboom-Gill (CPMG) spin echo sequence.

Results: Hepatic R2 values were significantly increased in all 68 patients; VBM, pancreatic, and myocardial R2 values were increased in 67/68, 35/47, and 47/61 patients, whereas five patients showed decreased pancreatic R2 attributed to fatty degeneration.

Skin biopsy for the diagnosis of Alport syndrome.

Alport syndrome (AS) is the most common hereditary nephritis often associated with extrarenal manifestations. It was first described by Alport on 1927. There is a primary disorder in collagen type IV which is the main component of the basement membranes.

Abrupt and durable remission of Henoch-Schönlein purpura nephritis with cyclosporine A.

Henoch-Schönlein purpura glomerulonephritis (HSP-GN) is a common form of systemic small vessel vasculitis in children. Although prognosis is usually favourable, the disease is occasionally associated with a risk of renal insufficiency. Various immunosuppressive agents have been used in patients with severe HSP-GN, but none have shown convincing favourable effects.

The pancreas in beta-thalassemia major: MR imaging features and correlation with iron stores and glucose disturbances.

The study aims at describing the MR features of pancreas in beta-thalassemia major, investigating the relations between MR findings and glucose disturbances and between hepatic and pancreatic siderosis. Signal intensity ratios of the pancreas and liver to right paraspinous muscle (P/M, L/M) were retrospectively assessed on abdominal MR imaging studies of 31 transfusion-dependent patients with beta-thalassemia major undergoing quantification of hepatic siderosis and 10 healthy controls, using T1- (120/4/90), intermediate in and out of phase - (120/2.7, 4/20), and T2*-(120/15/20) weighted GRE sequences.

Long-term follow-up of children with vesicoureteral reflux with and without antibiotic prophylaxis.

The aim of the present study was to obtain data on the outcome of children with persistent vesicoureteral reflux (VUR) after cessation of antibiotic prophylaxis. Children with VUR who had been on antibiotic prophylaxis for at least 2 y and were free of urinary tract infections (UTI), had normal voiding patterns, and no hydronephrosis or new kidney scarring, had antibiotic prophylaxis discontinued, were followed up prospectively with urine cultures, voiding cystourethrography, and technecium-99m dimercaptosuccinate renal scintigraphy. The findings were compared with those of the same patients while they were on antibiotic prophylaxis.

Glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome: a gene interaction underlies severe jaundice without severe hemolysis.

The authors describe the paradoxical clinical phenotype of an undetected severe hemolysis in parallel with the development of severe jaundice in a 13-year-old male suffering from a confirmed interaction of glucose-6-phosphate dehydrogenase deficiency (Mediterranean variant, 563 C/T) and Gilbert syndrome [variant (TA)7/(TA)7]. The child had 2 acute hemolytic episodes at the age of 10 and 13 years following infections of unknown origin. Both episodes were characterized by considerably high bilirubin levels (1st episode: 10.

Recurrent torticollis secondary to Langerhans cell histiocytosis: a case report.

Torticollis is a common clinical sign encountered by pediatricians and orthopaedic surgeons in a wide spectrum of childhood conditions ranging from benign to life-threatening. We report the case of a child with recurrent torticollis caused by Langerhans Cell Histiocytosis (LCH). The patient was a 1-year-old boy with recurrent torticollis, followed by a painless swelling over the right temporal bone.

Sustained response to interferon alpha-2a in thalassemic patients with chronic hepatitis C. A prospective 8-year follow-up study.

Eighty-nine thalassemic patients with chronic hepatitis C were treated with interferon alpha-2a for 12 months and followed up for 8 years. Interferon induced sustained virologic and biochemical response in 45% of participants and histologic improvement in 50% of patients who had paired liver biopsies. Splenectomy was the only independent predictor of an unfavorable outcome.