rare presenting

Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by hypothalamic dysfunction, hypotonia, cognitive deficits, and hyperphagia, primarily resulting from genetic abnormalities on chromosome 15. Among its varied manifestations, musculoskeletal issues, notably scoliosis, pose important challenges in management. This study aims to investigate differences in postural-motor development and spinal range of movement between preadolescents and adolescents with PWS, with and without scoliosis, while also exploring the potential impact of scoliosis on caregiving burden, an aspect yet to be thoroughly explored in existing literature...

BACKGROUND: The illnesses associated with changes in barometric pressure can be classified into three types: acute mountain sickness, high-altitude pulmonary edema (HAPE), and high-altitude cerebral edema. HAPE is a rare form of pulmonary edema that occurs in susceptible individuals after arriving at altitudes over 2500 m above sea level (m). Only a few studies have reported classical HAPE among children with underlying cardiopulmonary comorbidities. In this study, we report two pediatric cases of classical HAPE that occurred immediately upon arriving at Abha city (with an average elevation of 2270 m above sea level)...

The co-occurrence of myasthenia gravis (MG) and paroxysmal nocturnal hemoglobinuria (PNH) is rare; only one case has been published so far. We report a 63-year-old Caucasian female patient who was diagnosed with MG at the age of 43. Thymoma was also detected, and so it was surgically resected, which resulted in reasonable disease control for nearly 20 years. Slight hemolysis began to emerge, and then myasthenia symptoms progressed, so immunosuppressive therapy was started. Due to progressive disease and respiratory failure, the patient underwent plasmapheresis, and ventilatory support was stopped...

This article presents the report of the session on "Newborn Screening for Primary Immunodeficiencies-Now What?" organised during the International Primary Immunodeficiency Congress (IPIC) held in November 2023. This clinical conference was organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), the global patient organisation advocating for primary immunodeficiencies (PIDs) in patients. The session aimed at exploring the advances in newborn screening (NBS) for severe combined immunodeficiency, starting with the common practice and inserting the discussion into the wider perspective of genomics whilst taking into consideration the ethical aspects of screening as well as incorporating families and the public into the discussions, so as to ensure that NBS for treatable rare disorders continues to be one of the major public health advances of the 20th century...

AIMS: Low-grade myofibroblastic sarcoma (LGMS) is a rarely metastasizing myofibroblastic tumour mostly affecting extremities and the head and neck of adults. Histologically, it shows long infiltrative fascicles of spindle cells with moderate nuclear atypia. By immunohistochemistry, it stains positive for smooth muscle actin (SMA) and sometimes for desmin. To date, no recurrent genetic abnormalities have been described. Ubiquitin-specific peptidase 6 (USP6) gene rearrangement is typically found in some benign bone and soft-tissue tumours including nodular fasciitis (NF), among others...

Shwachman Diamond syndrome (SDS) is a rare autosomal recessive genetic disorder and due to its complex and varied clinical manifestations, diagnosis is often delayed. The purpose of this study was to investigate the clinical manifestations and genetic characteristics of SDS in Chinese patients, in order to increase pediatricians' awareness of SDS and to allow early diagnosis. We conducted a search to identify patients presenting SBDS gene pathogenic variant in two Chinese academic databases. We analyzed and summarized the epidemiology, clinical features, gene pathogenic variants, and key points in the diagnosis and treatment of SDS...

BACKGROUND: Adenocarcinoma of the rete testis (AORT) is an extremely rare and aggressive tumor with a poor prognosis. Its etiology and pathological characteristics have not been extensively studied, making accurate diagnosis and appropriate management challenging. AORT, an invasive testicular tumor with a mortality rate of 46%, treatment typically involves radical orchiectomy, retroperitoneal pelvic lymph node dissection (RPLND), adjuvant chemotherapy, and/or ongoing monitoring, but the response to conventional radiation and chemotherapy is limited...

The genus Leptanilla Emery, 1870 of the family Formicidae, subfamily Leptanillinae, comprises miniscule, pale, blind ants that are rarely collected and poorly understood due to their hypogaeic (i.e. underground) lifestyles. Here we describe a new Leptanilla species from two workers collected via subterranean scraping in the arid Pilbara region of Western Australia. Leptanillavoldemort sp. nov. is the second leptanilline species documented in Australia after the elusive Leptanillaswani Wheeler, 1932. Workers of L...

BACKGROUND AND OBJECTIVES: Primary CNS vasculitis (PCNSV) is a rare inflammatory disorder that affects the blood vessels of the central nervous system (CNS). We aimed to analyze the neurological presentations, clinical follow-up, and long-term outcomes of patients with primary central nervous system vasculitis. METHODS: We conducted a retrospective analysis of medical records to assess the neurological presentation, rate of remission, and functional status at the last follow-up in patients with primary central nervous system vasculitis seen in our center in the last 13 years (2010-2023)...

BACKGROUND: Aortic regurgitation (AR) associated with detachment of the aortic valve commissure is extremely rare. We present a case of progressively worsening severe chronic AR due to detachment of the aortic valve commissure during hospitalization that was confirmed with multimodality imaging. CASE SUMMARY: A 50-year-old male with Marfan syndrome visited our hospital to receive treatment for cholelithiasis. Pre-operative examination revealed severe AR and aortic root aneurysm...

BACKGROUND: Neuroglial heterotopia is a rare lesion composed of differentiated neuroectodermal cells that manifest in extracranial locations, with the majority of cases predominantly occurring in the head and neck region. Retroperitoneal neuroglial heterotopia is exceptionally rare, with isolated cases published in the scientific literature. CASE REPORT: Here, we present the case of a 3-year-old girl who was admitted without clinical signs but presented with a palpable abdominal mass...

BACKGROUND: Catastrophic antiphospholipid syndrome (CAPS) is a multi-system autoimmune disease characterized by extensive thrombosis. Pediatric CAPS is extremely rare and associated with a high mortality rate, especially when midbrain infarction is involved. Hence, early diagnosis and prompt initiation of appropriate treatment for CAPS complicated by midbrain infarction are of utmost importance in achieving favorable outcomes. CASE PRESENTATION: In this report, we present the case of a 14-year-old girl who presented with neurological symptoms and digestive system infection and was initially diagnosed with an "intracranial infection"...

A gastrostomy is a common procedure for patients with swallowing problems or inability to maintain regular oral nutrition. These gastrostomy tubes need special attention, as complications can occur if the tubes are left unattended. In rare scenarios, these tubes can migrate and cause severe life-threatening difficulties such as bowel obstruction and pancreatitis. We present the case of a 76-year-old quadriplegic woman who had a gastrostomy tube. Suddenly, the tube was missing, and after urgent medical care, the gastrostomy tube was found within her bowel...

Pulmonary sarcomatoid carcinoma (PSC) represents a rare and highly aggressive variant of lung cancer, characterized by its recalcitrance to conventional therapeutic modalities and the attendant dismal prognosis it confers. Recent breakthroughs in immunotherapy have presented novel prospects for PSC patients; nevertheless, the utility of neoadjuvant/conversional immunotherapy in the context of PSC remains ambiguous. In this report, we present a middle-aged male presenting with Stage III PSC, notable for its high expression of the programmed death-ligand 1 (PD-L1), initially deemed as non-resectable for sizeable tumor mass and multiple lymph nodes metastases...

INTRODUCTION: Acute thoracolumbar intervertebral disc herniation (IVDH) constitutes an emergency because associated neurological clinical signs can be progressive, with prognosis dependent on preoperative presence of deep pain perception. Pre-anesthetic thoracic radiographs are routinely performed to evaluate for potential pathology that could result in increased risk or change in overall prognosis. However, due to the emergent nature of this disease, the weight of thoracic radiographic findings on treatment plans for these dogs in unknown...

Clinical endocrinologists encounter in their practice patients with thyroid diseases on a daily basis. Still, diagnosis of rare structural thyroid disorders can be quite challenging. In some instances, they do not only impersonate but can also conceal, other conditions such as thyroid carcinomas. We describe a series of patients with structural thyroid disorders including 1) anaplastic thyroid carcinoma initially presenting with features of thyroid abscess; 2) unicentric hyaline vascular Castleman's disease of the thyroid embedded in a stroma of papillary thyroid carcinoma; and 3) primary thyroid lymphoma with a rapid and fulminant evolution...

Angiokeratoma is a vascular cutaneous disorder that is generally asymptomatic and presents with multiple dark red to blue or black papules over the skin. The prevalence of angiokeratoma increases as the age increases and it is more common after third and fourth decades of life. There are different types of angiokeratoma which may be localized forms (angiokeratoma of Mibelli, angiokeratoma circumscriptum, solitary angiokeratoma, and angiokeratoma of the scrotum or vulva) or diffuse variant (angiokeratoma corporis diffusum)...

Eosinophilic myocarditis (EM) is a rare but potentially fatal complication of sustained eosinophilia that is characterized by eosinophilic infiltration into myocardial tissue. There are various etiologies of EM that can be classified into general categories: reactive, clonal, and idiopathic. We present a case of EM caused by chronic eosinophilic leukemia, a rare myeloproliferative neoplasm that frequently presents with sustained peripheral eosinophilia. This case displays several serious complications of EM, including recurrent ventricular tachycardia storm, cardiogenic shock, and mural thrombus formation despite anticoagulation...

Moyamoya disease (MMD) is a rare neurological condition characterized by brain blood vessel narrowing, leading to collateral vessel formation. Diagnosis typically involves cerebral angiography and magnetic resonance angiography (MRA), with surgical revascularization often providing superior outcomes. Here, we present the case of a 55-year-old woman with hypertension, diabetes, and a history of ischemic stroke. She recently experienced a hemorrhagic stroke due to MMD, compounded by a non-functional pituitary macroadenoma...

Hepatic rupture is a rare complication of severe preeclampsia. A high index of suspicion is required in the presence of abdominal pain accompanied by hemodynamic decompensation in a pregnant woman. Hepatic rupture constitutes a medical emergency that demands immediate intervention, often with the support of other medical disciplines, in a highly specialized hospital setting. Unruptured hepatic hematomas can be managed conservatively. Immediate delivery and surgical repair of the liver are necessary for maternal survival...