Rare disease

BACKGROUND: Congenital dyserythropoietic anemia Ⅱ (CDA Ⅱ) is a rare inherited disorder of defective erythropoiesis caused by SEC23B gene mutation. CDA Ⅱ is often misdiagnosed as a more common type of clinically related anemia, or it remains undiagnosed due to phenotypic variability caused by the coexistence of inherited liver diseases, including Gilbert's syndrome (GS) and hereditary hemochromatosis. METHODS: We describe the case of a boy with genetically undetermined severe hemolytic anemia, hepatosplenomegaly, and gallstones whose diagnosis was achieved by targeted next generation sequencing...

PURPOSE: This report describes a case of Descemet membrane endothelial keratoplasty (DMEK) graft failure after non-clearing bullae over the area of the orientation mark on the graft. METHODS: Case report. RESULTS: The summary of the clinical presentation and workup is described, followed by a brief overview of the DMEK procedure and the gentian violet (GV) ink used to ensure the correct orientation of the DMEK graft. CONCLUSIONS: GV has a good safety profile; however, there are rare cases of adverse events...

BACKGROUND: As a rare neurodegenerative disease, sporadic Creutzfeldt-Jakob disease (sCJD) is poorly understood in the elderly populace. This study aims to enunciate the multidimensional features of sCJD in this group. METHODS: A case of probable sCJD was reported in a 90-year-old Chinese man with initial dizziness. Then, available English literature of the elderly sCJD cases (aged 80 years and over) was reviewed and analyzed. Patients (15 cases) were subdivided and compared geographically...

OBJECTIVE: Hypoparathyroidism (HPt) is a rare endocrine disorder often of postsurgical origin, resulting in hypocalcaemia. Several complications have been described including impairment of quality of life (QoL). Our study aims to evaluate the effect of hypoparathyroidism on the QoL of patients diagnosed with HPt. METHODS: A cross-sectional study was conducted in the Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition of the Hassan II University Hospital of Fez...

BACKGROUND: Seasonal influenza vaccines (SIV) authorized for use in Canada have all undergone rigorous regulatory assessments for safety and effectiveness. Serious adverse events following immunization (AEFI) can occur, though they are rare. Continuous safety surveillance of vaccines during the post-marketing phase is a critical component of vaccination programs. This enables the detection of rare, late onset, or unexpected adverse events. An updated safety summary following the introduction of any new vaccines and/or formulations to immunization programs is necessary for refining the risk-benefit profile of a specific vaccine and maintaining public confidence...

Metanephric adenoma presents as a rare benign tumor in children with differentiated diagnoses: Wilms tumor or renal cell carcinoma. When confronted with small renal tumors, whether they fall into one of these three diagnostic categories, tumor resection surgery with laparoscopic partial nephrectomy is considered a viable and effective operative approach. Herein, we report the case of an 11-year-old female patient initially diagnosed with stage T1a renal cell carcinoma with postoperative pathology results confirming metanephric adenoma...

Malakoplakia is a granulomatous tissue inflammation with a characteristic histological appearance, mainly affecting the urogenital system and morphologically reflecting a macrophage disease. If bladder involvement is the most common, renal involvement is very rare and may be responsible for a differential diagnosis problem with renal cell carcinoma. We present a clinical case of renal malacoplakia mimicking malignant renal cell carcinoma diagnosed after partial nephrectomy in a 58-year-old woman with no history of recurrent urinary infections...

Bilateral supernumerary kidneys and associated urinary stone disease are rarely seen in clinical practice, and only three cases have been reported in the literature to date. We report a 15-year-old male patient having a bilateral supernumerary kidney with an obstructive left ureteric stone successfully managed with retrograde intrarenal surgery. Stones in such anomalous kidneys pose a challenge for the urologist, and imaging is essential for surgical intervention planning. RIRS with holmium laser lithotripsy is a safe and effective treatment with a high single-stage stone-free rate and low complication rate in experienced hands...

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INTRODUCTION: Nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) gene variants are associated with a range of phenotypes, including epilepsy, intellectual disability, cerebellar ataxia, Parkinson's disease, dystonia, and congenital disorders of glycosylation. Additionally, cases describing genotypes and clinical features are rare. CASE PRESENTATION: Herein, we report the case of a 23-year-old Chinese female patient who presented with tremors, intellectual disability, and epilepsy...

Systemic lupus erythematosus (SLE) is an autoimmune disease which typically presents in young women. Patients with SLE exhibit features of accelerated atherosclerosis. Here, the present study reported a rare case of acute myocardial infarction (AMI) in a male patient diagnosed with SLE. A 29-year-old male with no cardiovascular history was diagnosed with AMI and underwent coronary angiography, which showed a long-extended spiral-shaped dissection of the right coronary artery (RCA). The patient's autoimmune panel tested positive for antinuclear, anti-nuclear ribonucleoprotein/Smith and anti-Sjogren's syndrome A antibodies...

Heritable pulmonary arterial hypertension (HPAH) is a rare progressive condition that includes patients with an identified genetic cause of pulmonary arterial hypertension (PAH). HPAH and idiopathic PAH (IPAH) have an estimated combined incidence of 0.5-0.9 cases per million children-years. Several pathogenic variants have been associated with HPAH in children and adults, including genes BMPR2 , TBX4 , and  ACVRL1 , and more rarely with variants in genes such as SOX17 . HPAH is often difficult to manage and has poor prognosis despite advances in medical therapy with many patients progressing to lung transplantation, right heart failure and death...

Ocular comorbidities can happen as congenital defective gene associations. We present a 37-year-old female patient who was mentally challenged and had coexisting achromatopsia gene abnormality on genetic analysis. She was operated in childhood for congenital cataract, and posterior chamber intraocular lens (IOL) was implanted at 10 years of age elsewhere. The patient presented 27 years later with luxated IOL with endothelial decompensation. There was a coexisting steep and thin cornea noted on corneal topography...

Unilateral acute idiopathic maculopathy (UAIM) is a rare disease that may cause unilateral vision loss in young adults after a flu-like illness. Occasionally, it is associated with hand-foot-mouth disease (HFMD) and is often underdiagnosed. Herein, we report a case with characteristics of UAIM associated with HFMD with acute enteroviral infection. On the basis of the clinical findings using multimodality diagnostic imaging, including fundus image, optical coherence tomography, fluorescence angiography, and serological test for pan-enterovirus RNA polymerase chain reaction, we detailed the clinical course and postulated the pathogenesis of UAIM with choroiditis associated with HFMD...

Iris mammillations are distinctive uniform nipple-like elevations that cover the anterior surface of the iris partially or totally. It is a rare finding and may coexist with other ocular and extraocular manifestations. Optic nerve pit (ONP), also known as optic disc pit (ODP) or optic hole, is a congenital defect resulting from the failure of fetal fissure closure during the embryonic development. It belongs to the congenital cavitary anomalies spectrum. This case presents a 19-year-old female patient who complained of a gradual decrease in visual acuity in both eyes for 4 years...

Schistosomiasis is a parasitic disease caused by trematodes (body flukes), affecting millions worldwide. However, its pulmonary manifestations are rare. We report a rare case of a 51-year-old People Living with HIV male, managed in a tertiary care hospital in west India in May 2023, vegetable vendor who was admitted with complaints of dysphagia, odynophagia, fever and chest pain for 3 days, cough and breathlessness for 1 month. Chest x-ray and CT scan were suggestive of hypodense fluid collection with rim enhancement along right lateral and posterior aspect of thoracic esophagus...

Echinococcosis is the most common cestode infection globally caused by the Echinococcus species. The most common organ involvement is the lungs and liver, but other organs can be rarely involved. Here, we present a case with a giant cerebral hydatid cyst. A 4-year-old boy presented with abnormal gait and walking at Marmara University School of Medicine Pendik Training and Research Hospital, Istanbul, Türkiye in September 2022. Cranial magnetic resonance imaging showed a cyst of 13 cm in diameter. The cyst was enucleated successfully with no rupture...

Hydatid cyst is an infestation caused by Echinococcus granulosus , which is endemic in most countries and most commonly affects the liver and lungs. Isolated muscle involvement is very rare and accounts for 3-5% of all cases. In April 2022, Health Sciences University Elaziğ Fethi Sekin City and Research Hospital in Turkey received a referral for a 37-year-old male patient from the physical therapy and rehabilitation outpatient clinic. The patient presented with complaints of chronic pain in his left shoulder and back, which worsened with movement...

BACKGROUND: Black disease, also known as visceral leishmaniasis (VL), is a parasitic illness caused by various Leishmania species. The risk of morbidity and mortality increases with delayed diagnosis and treatment. Early VL diagnosis and fast appropriate treatment are critical issues in endemic areas. METHODS: This study was a retrospective cross-sectional study to investigate the diagnostic and therapeutic course of patients admitted with the diagnosis of VL in the Children's Medical Center (CMC) Hospital, Tehran, Iran...

RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic features, including cryptorchidism (CR) in >50% of affected men. As CR predisposes to spermatogenic failure (SPGF; total sperm count per ejaculate 0-39 million), we hypothesized that men seeking infertility management include cases with undiagnosed RASopathies. Likely pathogenic or pathogenic (LP/P) variants in 22 RASopathy-linked genes were screened in 521 idiopathic SPGF patients (including 155 CR cases) and 323 normozoospermic controls using exome sequencing...