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Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointest...
Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration begi...
We present this report of a new ophthalmic finding in a patient with ochronosis.
Persistent descending mesocolon, an anomaly of fixation of the mesentery of the descending colon, can sometimes cause complications such as intestinal obstruction and intussusception. We present the first repo...
Duplication of urethra is a very rare congenital disorder. Several types of this anomaly have been reported around the world, and are also discussed in this report. However, the mechanism of this anomaly is st...
Malignant struma ovarii is a very rare type of gynecologic cancer. Although its most common histological subtype is a pure type of papillary thyroid carcinoma containing two components, papillary carcinoma and...
Fusarium species are saprophytic fungi with a worldwide distribution. These fungi cause various infections among immunocompromised patients; however, they can also involve immunocompetent individuals.
Immunoglobulin G4-related disease is characterized by swelling of various organs throughout the body and nodules/hypertrophic lesions. However, its cause remains unknown. We report a case of immunoglobulin G4-...
Since the approval of the Pfizer–BioNTech (BNT162b2) mRNA vaccine for COVID-19 infection, a few adverse effects have been reported. Acute pancreatitis has been reported in a few patients. However, there is cur...
Paraneoplastic limbic encephalitis is a rare neurologic syndrome that affects patients with cancer and commonly presents with symptoms of personality changes, visual disturbances, seizures, vertigo, and memory...
Targeted therapy with anaplastic lymphoma kinase inhibitor alectinib has become standard therapy for selected patients with non-small cell lung carcinoma. Few data are available on the renal effects of alectin...
After the introduction of antibiotics, pneumococcal pericarditis has become a rare finding. However, this severe condition with high mortality and complication rates requires rapid recognition and intervention...
Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal a...
McCune–Albright syndrome is a complex disorder encompassing multiple endocrinopathies. These manifestations are secondary to a mutation in the stimulatory G-protein alpha subunit. Cushing syndrome is due to au...
Accessory breast(s) is defined as the presence of more than two breasts with or without a nipple and areola in human beings. It may occur anywhere along the primitive embryonic milk lines, which extend from th...
We present a case of fungal keratitis caused by Scedosporium apiospermum, which is a rare agent.
Solar maculopathy is a well described clinical entity that usually occurs in patients that have gazed directly the sun. In this report we describe the first two cases of solar maculopathy in individuals expose...
This case reveals a novel presentation of drug rash with eosinophilia and systemic symptoms syndrome that mimics a lymphoproliferative disorder. The heterogeneous clinical presentation of drug rash with eosino...
Over 1.4 million US adults identify as transgender when gender identity differs from the sex assigned at birth [1]. Although transgender patients face adverse health outcomes, they remain an understudied populati...
Spinal fractures rarely cause hemothorax, and no treatment consensus has been reached. Conservative treatment is generally selected in cases without arterial injury, but there have been some reports of uncontr...
Patients with severe coronavirus disease 2019 (COVID-19) infection require a long period of time to return to work and society due to significant physical weakness even after recovery. Here we report a patient...
Lumbar spondylolisthesis is reported to present with a familiar pattern, with the dysplastic type of spondylolysis being minor but more hereditary than the isthmic type. Siblings presenting during adolescence ...
Alport syndrome is a rare inherited disorder affecting the glomerular basement membrane, manifested by hematuria and proteinuria that is commonly associated with ocular and hearing defects. There is limited in...
Therapeutic options are needed for metastatic melanoma refractory to therapies directed against programmed cell death-1. High-dose interleukin-2 has the potential to overcome programmed cell death-1 resistance.
Previous research has suggested that some autoimmune diseases develop after the occurrence of coronavirus disease 2019. Hypereosinophilic syndrome is a rare disease presenting with idiopathic eosinophilia and ...
We present a case of a rare complication of negative-pressure wound therapy (NPWT) wherein there was fixation of a meshed split-thickness skin graft (STSG), suspected as a failure by hypergranulation. However,...
Right-side fixation of the sigmoid colon is a rare anatomical variant associated with intestinal malrotation (Choi et al. in J Korean Surg Soc. 84(4):256–60, 2013). Differently from other forms of malrotation, th...
Perforated peptic ulcer disease is a serious complication of peptic ulcer disease (PUD) that presents as acute abdomen. It is very uncommon during pregnancy, but its diagnosis in pregnancy is very challenging ...
True isolated posterior myocardial infarction is an uncommon finding of acute coronary syndrome, with an incidence rate of 3–7%. The prevalence rates of isolated posterior myocardial infarction in men and wome...
Remitting seronegative symmetrical synovitis with pitting edema is a rare rheumatic condition of the elderly population that is well described but whose mechanisms remain little studied. This syndrome is chara...
Desmoid tumors are rare lesions. Although they demonstrate tumor characteristics, such as infiltrative growth and tendency towards local recurrence, they lack the ability to metastasize. To date, the cause of ...
Low blood pressure and associated postural symptoms are well-recognized manifestations of anaphylaxis. Nonetheless, anaphylaxis can present with high blood pressure and is rarely reported in the literature. We...
Diabetes mellitus is the most common metabolic disease globally, while glucose-6-phosphate dehydrogenase deficiency, an X-linked inherited disorder, is the most common erythrocyte enzyme defect. The associatio...
Medulloblastoma is a malignant brain tumor that is common in children but very uncommon in adults, especially those older than 40 years, accounting for less than 1% of all primary brain tumors in adults. Altho...
The flexor pollicis longus is the most vulnerable muscle in acute compartment syndrome of the forearm. Reconstruction of a dysfunctional flexor pollicis longus is occasionally necessary following compartment s...
Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive di...
Anaplastic lymphoma kinase tyrosine kinase inhibitors are standard therapeutic agents prescribed for anaplastic lymphoma kinase-positive non-small cell lung cancer, and treatment with these agents has been sho...
Despite a considerable number of articles regarding neurological manifestations associated with severe acute respiratory syndrome coronavirus 2 infection, reports on transverse myelitis and encephalitis are sc...
We speculated that subclinical thrombosis may occur frequently through crosstalk between immune/inflammatory reactions and hemostasis after corona virus disease-2019 (COVID-19) vaccination. To test this hypoth...
Owing to the aging population, fragility fractures of the pelvis are occurring more frequently. Fixation of the fracture and stabilization of the pelvic ring usually provide good clinical results. A case of di...
Urticarial vasculitis is a clinicopathologic entity defined by recurrent episodes of urticarial lesions that persist > 24 hours and demonstrate the histopathologic features of leukocytoclastic vasculitis. The ...
Dura-attached supratentorial extra-axial ependymoma is a very rare type of tumor, with only nine reported cases. Preoperative diagnosis of dura-attached supratentorial extra-axial ependymoma is difficult and o...
Medulloblastoma is well known as the most common malignant brain tumor identified in children, frequently found at an intra-axial location in the posterior cranial fossa. Extra-axial medulloblastoma is uncommo...
Transplant-eligible patients with polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome are treated with induction therapy and autologous stem cell transplantation. Conventional induct...
Multiple cranial neuropathies carry a wide range of differential diagnoses, and when combined with cerebrospinal fluid monocytosis they often suggest an infective etiology. Reactivation of varicella zoster vir...
The diagnosis of tularemia is not often considered in Germany as the disease is still rare in this country. Nonetheless, Francisella tularensis, the causative agent of tularemia, can infect numerous animal specie...
Duodenal gastrointestinal stromal tumors are rare. If tumor growth is extraluminal and involves the head of the pancreas, the diagnosis of a duodenal gastrointestinal stromal tumor is difficult.
Since the beginning of the pandemic, no severe pediatric coronavirus disease 2019 cases have been described in Congo.
We describe a patient presenting with central retinal artery occlusion (CRAO) of the right eye after retrobulbar anesthesia with adrenaline for macular pucker surgery.
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Journal of Medical Case Reports