Fatal Case of Progressive Mpox in a Patient with AIDS-Viral Enteropathy and Malabsorption Demanding the Use of Full Parenteral ARV and Endovenous Cidofovir.

We report a fatal case of disseminated mpox infection that progressed over more than three months in an HIV-infected patient with acquired immunodeficiency syndrome (AIDS). Mucocutaneous, pleuropulmonary, central nervous system, and gastrointestinal involvement was documented. This course of disease resembles progressive vaccinia, a formerly reported disease caused by uncontrolled replication of smallpox vaccination orthopoxviruses in immunosuppressed patients. Severe small bowel involvement jeopardized normal oral tecovirimat and antiretroviral therapy absorption. This problem prompted the use of full parenteral antiretrovirals and endovenous cidofovir. Although a remarkable decrease in HIV viral load occurred in six days, mpox infection continued to progress, and the patient died of septic shock. This case offers new clinical insights on the presentation of severe disease in AIDS patients. Moreover, this case alerts for the need for prompt therapy initiation in patients at risk of ominous clinical progression.

Idiopathic Hypereosinophilic Syndrome Presenting With Embolic Stroke.

Hypereosinophilic syndrome is a rare condition characterized by eosinophilia associated with organ damage, most commonly affecting the skin, lung, gastrointestinal, cardiovascular and central nervous system. The idiopathic form is characterized by the absence of other conditions associated with hypereosinophilia such as allergies, infectious, hematological, immunological, endocrine or neoplasm diseases. The authors present a clinical case of a 70-year-old man with no relevant history, who went to the emergency department for neurological deficits and nonspecific chest pain. Laboratory tests revealed marked eosinophilia, elevation of cardiac enzymes with normal electrocardiogram. Computed tomography of the head showed multiple bilateral ischemic lesions. Upon further investigation for the cerebrovascular disease, transesophageal echocardiogram showed a thrombus at the aortic arch, as a probable embolic source. Despite anticoagulant therapy and corticosteroids, the patient's status deteriorated, with multiple successive ischemic strokes and worsening neurological deficits. After a thorough investigation, the diagnosis of idiopathic eosinophilia was established.

Tension Pneumothorax as Initial Manifestation of Granulomatosis with Polyangiitis (GPA).

Granulomatosis with polyangiitis (Wegener's granulomatosis) is a systemic vasculitis that primarily affects small and medium vessels. Its manifestations are usually confined to the upper airway, lower airway and kidney. It can also affect other organs and systems, although this is unusual. We describe the case of a 67-year-old woman who presented with a tension pneumothorax due to rupture of a pulmonary cavity. This pulmonary cavity proved to be secondary to systemic disease which also caused a tumour in her kidney. Biopsy showed non-necrotizing granulomatosis, and even though antineutrophil cytoplasmic antibodies (ANCA) were negative, the diagnosis of granulomatosis with polyangiitis was made. LEARNING POINTS: Granulomatosis with polyangiitis (GPA) can be a challenging diagnosis when the initial manifestation is atypical, so a careful history and physical examination are needed to make the diagnosis.It is not uncommon for patients with multisystemic inflammatory disease to attend several different specialty clinics before the diagnosis is reached.GPA with negative ANCA is rare, and occurs more frequently in non-severe forms of the disease.

[A patient with unexplained neurological symptoms]. / Een patiënte met onverklaarde neurologische klachten.

In this case of a 54-year-old woman, severe impairment of motor and sensory function - that could not be assigned to any neurological disease - was diagnosed as a probable conversion disorder or functional neurological disorder (FND). Several psychological stressors, which occurred in the year that preceded the first development of symptoms, were linked to the disorder. Nerve conduction values had not shown any abnormalities at the onset of the disease. However, as the condition progressed, cerebrospinal fluid and nerve conduction study proved an underlying polyneuropathy. In this article we discuss the diagnostic process followed in this case. General lack of evidence for psychological conflict being related to symptoms of conversion disorder/FND led to elimination of this criterion in DSM 5. Instead, the diagnostic process of conversion disorder/FND requires not only exclusion of neurological causes for the symptoms, but also active examination of neurological findings that are discrepant with known neurological diseases; taken together this can positively support a diagnosis of conversion disorder/FND.

ATP8B1 is essential for maintaining normal hearing.

ATP8B1 deficiency is caused by autosomal recessive mutations in ATP8B1, which encodes the putative phospatidylserine flippase ATP8B1 (formerly called FIC1). ATP8B1 deficiency is primarily characterized by cholestasis, but extrahepatic symptoms are also found. Because patients sometimes report reduced hearing capability, we investigated the role of ATP8B1 in auditory function. Here we show that ATP8B1/Atp8b1 deficiency, both in patients and in Atp8b1(G308V/G308V) mutant mice, causes hearing loss, associated with progressive degeneration of cochlear hair cells. Atp8b1 is specifically localized in the stereocilia of these hair cells. This indicates that the mechanosensory function and integrity of the cochlear hair cells is critically dependent on ATP8B1 activity, possibly through maintaining lipid asymmetry in the cellular membranes of stereocilia.