Rosai-Dorfman Disease Presenting with Solitary Liver Mass Without Lymphadenopathy: Case Report and Literature Review

This care report presents a 51-year-old woman patient with a cyst-like mass in the liver. The proliferated histiocytes, with the eosinophilic nucleolus, occasionally showing lymphophagocytosis (emperipolesis) positively for CD68 protein S-100 were reported in the pathological study, and the plasma cells were positive for CD138, consistent with Rosai-Dorfman disease.

Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson–Fabry disease: a case series

Background Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder resulting from a mutation of alpha-galactosidase A gene (GLA), causing deficiency in alpha-galactosidase activity. The enzyme deficit can lead to storage of globotriaosylceramide in various organs including heart. Studies suggest that vasospastic angina (VSA) is associated with AFD. Case summary This clinical case series aimed to present two female patients with AFD, including progressive cardiac involvement: a 50-year-old woman (patient number 1) and a 39-year-old woman (patient number 2) who are siblings with a male AFD patient harbouring p. Arg342Glu missense variant in alpha-galactosidase A gene (GLA), who suffered VSA and subsequent ventricular fibrillation. Enzymatic tests and genetic analysis confirmed AFD in both female patients and histological tests revealed globotriaosylceramide deposits in their hearts. In patient number 1, a 12-lead electrocardiography and transthoracic echocardiography revealed cardiac hypertrophy. Coronary angiography revealed no organic coronary artery stenosis and vasospasms was induced by spasm provocation test. In patient number 2, no signs of cardiac hypertrophy were found, and coronary arteries had no organic stenosis with negative spasm provocation test. Both patients received enalapril therapy and enzyme replacement therapy (ERT). Discussion Different phenotype of AFD was occurred even with the same genetic variant in female heterozygote patients. The duration of exposing accumulation of Gb3 might affect cardiac hypertrophy and vasospasms. Coronary angiography with acetylcholine provocation test should be considered in female AFD patient, especially in case with cardiac hypertrophy.

Three Cases of Aphasic Status Epilepticus: Clinical and Electrographic Characteristics

Aphasic status epilepticus (ASE) is unusual and has clinical characteristics similar to those of other disorders. Herein, we report 3 cases of ASE. A left-handed man (patient 1) showed continuous aphasia after the administration of flumazenil. He had underlying alcoholic liver cirrhosis and traumatic brain lesions in the right hemisphere. Electroencephalography (EEG) revealed periodic epileptiform discharges in the right frontotemporal area, which were intervened by rhythmic activity with spatiotemporal evolutions. A right-handed woman (patient 2) showed recurrent aphasia. Blood tests revealed a high blood glucose level (546 mg/dL) and high serum osmolality (309 mMol/L). Her EEG showed rhythmic activity in the left frontotemporal area with spatiotemporal evolutions on a normal background rhythm. She became seizure-free after the administration of an antiepileptic drug and strict glucose regulation. A right-handed woman (patient 3) developed subacute aphasia a week before hospital admission. She had a gradual decline of cognition 1 year before. Her EEG showed intermittent quasi-rhythmic fast activity in the frontotemporal area bilaterally, with fluctuating frequency and amplitude. The patient became seizure-free after the administration of an antiepileptic drug. Brain single-photon emission tomography performed after seizure control showed decreased perfusion in the left frontotemporal area. After discharge, her cognitive function gradually declined to a severe state of dementia. ASE can be caused by diverse etiologies; it is usually caused by cerebral lesions and less frequently by non-lesional etiologies or degenerative disorders. Adequate treatment of underlying disorders and seizures is critical for curing the symptoms of ASE.

Just the Facts: Management of cyclopeptide mushroom ingestion

A 54-year-old woman prepares dinner around 8:00 pm that includes mushrooms that she picked from her yard. The next morning, around 8:00 am, the woman (patient), her daughter, and son-in-law all develop abdominal cramps, violent vomiting, and diarrhea. They present to the emergency department and are admitted for dehydration and intractable vomiting with a presumed diagnosis of food poisoning. Twenty-four hours later, they appear well with stable vital signs and improved symptoms. Four hours later, 36 hours post-ingestion, the patient becomes lethargic. A venous blood gas reveals pH, 7.1; PCO2, 16 mmHg; and her AST was 3140 units/L with an ALT of 4260 units/L and an INR of 3.7.

Peculiarities of complicated course of postoperative period in a woman-patient, suffering an acute cholecystitis

Peculiarities of complicated course of postoperative period in a woman-patient, suffering an acute cholecystitis

Successful surgical treatment of massive thrombosis of right parts of the heart in a woman-patient with oncological anamnesis

Successful surgical treatment of massive thrombosis of right parts of the heart in a woman-patient with oncological anamnesis

What is the Diagnosis?

A 54 years old woman patient, with complaints of sporadic palpitations, without medication and with a structurally normal heart, presents itself in the clinic where the electrocardiogram, observing prolonged monitoring of the D2 derivation with sensitivity 2N.