Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases: Five-year Experience of a Pediatric Tertiary Hospital in Portugal.

Introduction: Neurocutaneous syndromes (NCS) are a heterogeneous group of conditions with multiorgan involvement and diverse manifestations, evolving throughout life with significant morbidity. A multidisciplinary approach to NCS patients has been advocated, although a specific model is not yet established. The aim of this study was 1) to describe the organization of the recently created Multidisciplinary Outpatient Clinic of Neurocutaneous Diseases (MOCND) at a Portuguese pediatric tertiary hospital; 2) to share our institutional experience focusing on the most common conditions, neurofibromatosis type 1 (NF1) and tuberous sclerosis complex (TSC); 3) to analyze the advantages of a multidisciplinary center and approach in NCS.

Associations of longitudinal height and weight with clinical outcomes in pediatric kidney replacement therapy: results from the ESPN/ERA Registry.

Background: Associations between anthropometric measures and patient outcomes in children are inconsistent and mainly based on data at kidney replacement therapy (KRT) initiation. We studied associations of height and body mass index (BMI) with access to kidney transplantation, graft failure, and death during childhood KRT.

Methods: We included patients < 20 years starting KRT in 33 European countries from 1995-2019 with height and weight data recorded to the ESPN/ERA Registry.

Aetiology, course and treatment of acute tubulointerstitial nephritis in paediatric patients: a cross-sectional web-based survey.

Background: Acute tubulointerstitial nephritis (TIN) is a significant cause of acute renal failure in paediatric and adult patients. There are no large paediatric series focusing on the aetiology, treatment and courses of acute TIN.

Patients, Design And Setting: We collected retrospective clinical data from paediatric patients with acute biopsy-proven TIN by means of an online survey.

Value-based decision-making for orphan drugs with multiple criteria decision analysis: burosumab for the treatment of X-linked hypophosphatemia.

Objective: Burosumab is an orphan medicinal product (OMP) approved in Europe for the treatment of X-linked hypophosphatemia (XLH). The aim of this study was to assess the value of burosumab versus conventional therapy for the treatment of paediatric XLH, through a multi-criteria decision analysis (MCDA) framework for health technology assessment (HTA) of OMPs in Portugal.

Methods: The MCDA framework considered 14 criteria related to disease burden, therapeutic value and economic burden.

X-linked hypophosphatemic rickets: a new mutation.

Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs.

Treatment and long-term outcome in primary distal renal tubular acidosis.

Background: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome.

Methods: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form.

Beyond polycystic kidney disease.

Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in and genes. gene is located in chromosome 16p13.3, adjacent to gene, responsible for the autosomal dominant polycystic kidney disease.

[TORCH serology and group B Streptococcus screening analysis in the population of a maternity].

Introduction: Systematic screening for TORCH infections and group B Streptococcus (GBS) during pregnancy has been an important factor in the improvement of perinatal care.

Aim: To evaluate TORCH serology and GBS carriers state in the population of a maternity, to assess variability with age and nationality and to search for congenital infections.

Material And Methods: Non-probabilistic prevalence study.

Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association.

A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol. The surgical correction of diaphragmatic eventration was crucial to a better outcome.

Challenges in orthopaedic management of Parkes-Weber syndrome.

A 16-year-old boy with a diagnosis of Parkes-Weber syndrome presented with a lower leg discrepancy of 3 cm for orthopaedic management. He had the triad of red skin lesion, lymphoedema and overgrowth of the right leg and multiple arteriovenous fistulae confirmed by angiography. Considering the risk of aggravating the vascular lesion, we decided conservative management of unequal limb lengths as long as this is well tolerated.

Bilateral facial palsy: a form of neuroborreliosis presentation in paediatric age.

Bilateral facial palsy (BFP) is a very uncommon entity, particularly in the paediatric age group. Despite its several aetiologies, neuroborreliosis should be suspected, especially in children from endemic areas presenting with acute neurological disease of unknown cause. We present two cases of BFPs as the presenting forms of neuroborreliosis.