Σάββατο, 21 Απριλίου 2018

Pure red cell aplasia and HIV infection: what to suspect?

Description

A 15-year-old boy of black ethnicity presented with anorexia, fatigue and weight loss for 3 months. The patient's medical record included malaria infection at the age of 18 months and diagnosis of HIV infection at age 7 years treated with Tenofovir (TDF)/Emtricitabine (FTC)+ Efavirenz (EFV). The adolescent first went to a Congo's Hospitalar Unit, where antiretroviral (ART) therapy was changed to TDF/FTC+ Lopinavir (LPV)/ritonavir (r) due to elevated HIV viral load and low CD4+ T lymphocytes. The compliance was irregular, and 1 month later he was admitted. The laboratory study revealed severe anaemia (haemoglobin (Hb) 4.1 g/dL), and he received multiple transfusions. Due to the absence of clinical improvement, parents brought him to Oporto's Paediatric Hospital in Portugal. 

On physical examination he presented with pallor and weight loss. The rest of his physical examination findings were normal. The initial laboratory study showed normocytic normochromic anaemia (Hb 7.3 g/dL, red cell distribution width...



https://ift.tt/2qPN8Qo

Corpus callosum demyelination associated with acquired stuttering

Compared with developmental stuttering, adult onset acquired stuttering is rare. However, several case reports describe acquired stuttering and an association with callosal pathology. Interestingly, these cases share a neuroanatomical localisation also demonstrated in developmental stuttering. We present a case of adult onset acquired stuttering associated with inflammatory demyelination within the corpus callosum. This patient's disfluency improved after the initiation of immunomodulatory therapy.



https://ift.tt/2HlubAs

MonoMac syndrome with associated neurological deficits and longitudinally extensive cord lesion

We present a case of monocytopaenia and mycobacteria-related infection (MonoMac) syndrome in a 30-year-old man of Indian origin. The clinical diagnosis of GATA2 haploinsufficiency was suspected after an unusual neurological presentation on a background of myelodysplastic syndrome and childhood pulmonary tuberculosis. The patient had a longitudinally extensive spinal cord lesion and a lesion in the medulla. No obvious infective cause for the spinal cord MRI abnormality was found, and the lesions were presumed to be inflammatory in nature. The family history consisted of autosomal dominant clinical features suggestive of GATA2 haploinsufficiency. Genetic testing in peripheral leucocytes revealed a pathogenic mutation in GATA2. This is the first-ever published case of possible MonoMac syndrome with a neurological presentation. The case highlights the rarity and complexity of the diagnosis and the clinical sequelae that ensued with the patient dying of gram-negative septicaemia while receiving intravenous steroid therapy for the spinal cord lesion.



https://ift.tt/2qLCg6a

Periurethral abscess drained by iatrogenic urethral fistula in a middle-aged man

Description

A 35-year-old man was referred to our urology department in June 2016 from a local hospital. The patient initially presented with high-grade fever, painful scrotal swelling and acute urinary retention (AUR) 3 months back to a local practitioner and was diagnosed as a case of periurethral abscess. He was advised oral antibiotics, and a small calibre (8 Fr) catheter was placed per-urethrally in the bladder. After few days, the catheter got removed accidentally, and the patient again went into AUR. The discharge card given to the patient mentioned that the patient had multiple failed attempts of per-urethral catheterisation, and in order to relieve the patient's symptoms, the treating practitioner just attempted a blind incision over the swelling. Pus mixed with urine came out. This turned out to be a blessing in disguise as it drained urine and led to resolution of the abscess. Subsequently, a urethral catheter was...



https://ift.tt/2HhLaDB

Cluster of exertional rhabdomyolysis in three young women

Three young women, aged 18–24 years, presented to general practice with signs and symptoms of exertional rhabdomyolysis in 2016. All attended the same gym and had undertaken an intensive physical workout. Presenting symptoms were severe muscle pain and swelling, significantly reduced range of motion in affected muscles and, in two cases, dark-coloured urine. One case had presented to the out-of-hours service 4 months previously with similar symptoms but rhabdomyolysis was not considered, although retrospective history taking suggests that was the likely diagnosis. All three women were admitted to hospital, treated with intravenous fluids and discharged between 1 and 6 days later. All made a full recovery with no renal sequelae. The cases were questioned about potential risk factors, and the only commonality was unaccustomed strenuous exercise.



https://ift.tt/2qPkMGc

Risperidone-associated sinus tachycardia potentiated by paliperidone palmitate in a patient with no prior cardiovascular disease: role of risperidone-related autonomic instability

Risperidone and paliperidone palmitate are two antipsychotic drugs well tolerated in the management of schizophrenia and other psychiatric conditions. There have been few reports of tachycardia induced by either drugs. Here, we report on a 21-year-old man, with a history of schizophrenia, and who developed persistent sinus tachycardia after he was restarted on risperidone, which later worsened after administration of paliperidone palmitate for long-term management. He had no cardiovascular risk factors other than obesity, and a prior well-tolerated risperidone treatment. Clinicians must be aware of the possibility of patients developing sinus tachycardia due to autonomic instability from a prior risperidone treatment, even though overall, these drugs are well tolerated.



https://ift.tt/2HgKEFL

Xp11 translocation renal cell carcinoma paraneoplastic syndrome presenting as cutaneous vasculitis: first reported case of yet another mask

Renal cell carcinoma is historically known as the 'great masquerader' with 40% of patients experiencing a paraneoplastic syndrome. Translocation carcinoma represents one-third of renal cancer in paediatric patients but less than 3% of renal cancers in patients aged 18–45 years where the clinical course is often rapidly terminal. There are less than 10 reported cases of leucoclastic vasculitis associated with clear cell carcinoma reported in the literature and 10 case reports of translocation carcinoma in adults. To our knowledge, we present the first reported case of Xp11 translocation carcinoma presenting as cutaneous vasculitis, as part of a paraneoplastic syndrome, in an adult patient. Our case highlights that renal cell cancers are truly the 'great masquerader' and a rash can be the first sign of renal malignancy.



https://ift.tt/2qLC1bg