Proximal Humerus Epiphysiolysis as a Rare Cause of Fracture in Childbirth - A Case Report.

Proximal humeral epiphysiolysis (PHE) are rare at 10.1/100,000 births and there are few cases described in the literature. We present the case of a newborn diagnosed with PHE submitted to conservative treatment.

Massive blood loss from urethrorrhage in a 16-year-old boy: Case report and review of two rare causes.

Urethral varices and hemangiomas are rare, underreported conditions that can be asymptomatic or present with intermittent urethrorrhage that can start or worsen with erection, sexual intercourse and ejaculation. Diagnosis can be made with urethroscopy and there are a wide variety of possible treatments that can suit both conditions. We present a case of a pediatric patient with severe blood loss from urethral varices that was treated with electrofulguration after laser treatment with Holmium failed.

Paediatric Palliative Care in a Reference Centre of Inherited Metabolic Diseases.

Introduction: Paediatric palliative care (PPC) has a significant role in improving the quality of life of children with life-limiting or life-threatening illnesses, diminishing symptom burden, and providing holistic support to patients and families. Inherited metabolic diseases (IMD) are a group of heterogeneous diseases that often present with severe neurologic impairment, needing lifelong care and challenging symptom management.

Objective: Our aim was to characterize the cohort of patients with IMD followed by the paediatric palliative care team (PPCT) and to describe the provision of care provided.

Cerebrospinal fluid hypotension following fall in a child: Case report.

CSF hypotension arises in the context of a leak of CSF which causes negative intracranial pressure. Sacral fractures result from high-energy trauma which are frequently underdiagnosed. A ten-year-old boy presented with hip pain, after a fall.

Predictive factors of relapse after methotrexate discontinuation in juvenile idiopathic arthritis patients with inactive disease.

Objective: To identify predictive factors of relapse after discontinuation of Methotrexate (MTX) in Juvenile Idiopathic Arthritis (JIA) patients with inactive disease.

Methods: We conducted a prospective multicenter cohort study of patients diagnosed with JIA using real world data from the Portuguese national register database, Reuma.pt.

Pinckney fracture: do not underestimate trauma of the distal phalanx of the hallux.

Toe injuries are common in the emergency department and most of them are treated conservatively. In some circumstances, these injuries can present as a physeal fracture with concomitant soft-tissue injury affecting the nail bed and resulting in a hidden open fracture. To adequately treat these patients, a high index of suspicion is needed to diagnose and treat the open fractures and to prevent complications such as infection, osteomyelitis, malunion and premature physeal arrest.

Long-term survival after choriocarcinoma transmitted by liver graft: A successful report in pediatric transplantation.

Background: LT is the standard of care for many pediatric liver disorders. Although long-term outcomes have improved, some rare complications such as transmission of occult donor tumors have been reported.

Case Report: An adolescent diagnosed with tyrosinemia was submitted to LT from a previous healthy donor due to HCC.

Cerebrospinal fluid hypotension following fall in a child: Case report.

CSF hypotension arises in the context of a leak of CSF which causes negative intracranial pressure. Sacral fractures result from high-energy trauma which are frequently underdiagnosed. A ten-year-old boy presented with hip pain, after a fall.

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia (FTD) are in part of a single disease continuum. Genetic causes have been identified in sporadic (SALS) and familial patients (FALS) and the recurrent genetic factor underlying ALS and FTD is the C9orf72 hexanucleotide repeat expansion (HRE).

Continuous costoclavicular brachial plexus block in a pediatric patient for postfracture rehabilitation.

The costoclavicular approach to the brachial plexus block has been recently described as a technique for anesthesia or postoperative analgesia of distal upper limb. In this article, we describe a case in which a continuous costoclavicular brachial plexus block was performed in a pediatric patient for conservative treatment of a traumatic radial fracture with severe elbow rigidity. Perineural catheter placement is a valuable option for pain control and functional prognosis during rehabilitation.

Haemophilia A: health and economic burden of a rare disease in Portugal.

Background: Haemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost and health burden of haemophilia A in Portugal.

[H Factor Deficiency: A Case with an Atypical Presentation].

We report a case of an 18-month-old boy with H factor deficiency with atypical presentation: recurrent acute otitis media and several maternal family members with autoimmune disorders (vitiligo, thyroiditis and immune trombocytopenia). Blood tests revealed low C3 and AH50, as well as low properdin and H factor. I factor was normal.

Prepubertal gynaecomastia in a boy with Peutz-Jeghers syndrome: managing the aromatase overexpression.

Background Gynaecomastia, although rarely related to testicular tumours, in boys with Peutz-Jeghers syndrome (PJS) usually occurs due to large-cell calcifying Sertoli cell tumour (LCCSCT). Case presentation A 4-year-old boy, with a genetic diagnosis of PJS, presented gynaecomastia since the age of 2, associated with increased height velocity (HV). He exhibited bilateral breast enlargement (Tanner-B4) and a testicular volume of 4 mL.

Persistent Hypothermia and Excessive Sweating Following Intrathecal Morphine Administration in a Teenage Boy: A Case Report.

Introduction: Opioids are used intrathecally to manage surgical pain. There are few reports of hypothermia after spinal morphine injection, none in the pediatric population. We present a teenager's case of mild hypothermia.

Advances in Food Allergy Diagnosis.

An accurate diagnosis of food allergy is extremely important to guide safe and yet not overly restrictive dietary management. The cornerstone of the diagnosis of food allergy is the clinical history; it allows appropriate selection of the allergens to be tested and interpretation of the results of allergy tests, namely Skin Prick Test (SPT), Specific IgE (sIgE) to allergen extracts and, more recently, specific IgE to allergen components and the Basophil Activation Test (BAT). SPT and sIgE to allergen extracts are very sensitive methods to detect IgE sensitization to a specific food and assess the possibility of spontaneous resolution.

Children Who Leave the Emergency Department Without Being Seen: Why Did They Leave and What Would Make Them Stay?

Introduction: Children who visit emergency departments and leave without being seen represent a multifactorial problem. We aimed to compare the sociodemographic characteristics of children who left and of those who did not leave, as well as to evaluate parental reasoning, subsequent use of medical care and patient outcome.

Material And Methods: This was a prospective case-control study of a random sample of children who left without being seen and their matched controls from an emergency department during a three-month period.

Vascular Trauma in Children-Review from a Major Paediatric Center.

Background: Traumatic noniatrogenic vascular injuries in children are rare and rarely discussed in literature. Pediatric vascular injuries pose a set of challenges mainly because of continued growth and development in a child or adolescent. The purpose of the study is to characterize management strategies and outcomes in these cases.

Patch testing in a case of eslicarbazepine and carbamazepine induced cutaneous reaction.

Anticonvulsants are among the drugs most commonly involved in cutaneous adverse drug reactions (CADRs). Eslicarbazepine is a new anti-epileptic drug, chemically related to carbamazepine but with a more favorable safety profile. We report the clinical case of a woman who developed a skin rash on day 10 of eslicarbazepine with further exacerbation with eosinophilia on day 2 of carbamazepine.