Unravelling a Triad: A Rare Case of Takayasu Arteritis, Hashimoto's Thyroiditis, and Psoriasis in a Young Female With Heart Failure.

Takayasu arteritis (TA) is an autoimmune entity of unknown aetiology causing granulomatous thickening of large and medium-sized arteries. Common symptoms include claudication, headaches, dizziness, syncope, visual changes, and palpitations. Diverse cardiac manifestations, such as ischemic heart disease, significant aortic regurgitation, and pulmonary hypertension, are associated with TA, although they rarely manifest as congestive heart failure. Radio-imaging, including CT angiography and MR angiography, along with more invasive procedures such as conventional angiography, are often used for diagnosis. Treatment is done with corticosteroids, steroid-sparing agents, biologics, and revascularization procedures. Here, we have a case of a 17-year-old Indian female who presented to us with a complaint of abdominal pain. She was diagnosed with Hashimoto's thyroiditis a few years ago, along with a history of congestive heart failure. On general examination, blood pressure was asymmetrical in the upper limbs with the presence of bilateral carotid bruit. There was also the presence of extensive scaly lesions on the extensor surface of all four limbs, suggestive of psoriasis. Radio-imaging confirmed the diagnosis of TA. CT angiography also showed total occlusion of the celiac trunk and proximal left gastric artery, which was likely the cause of her symptoms. The patient received treatment with corticosteroids in conjunction with methotrexate, along with other supportive drugs. TA with congestive heart failure has been occasionally described in the literature, while the association of TA with psoriasis is much rarer. The simultaneous occurrence of various autoimmune diseases is common, but the triad of Hashimoto thyroiditis, psoriasis, and TA with an initial presentation of heart failure is unique. Due to the common co-occurrence of autoimmune conditions, early and thorough patient evaluation with comprehensive studies is imperative for optimal health outcomes.

Iron Status in Sickle Cell Anemia: Deficiency or Overload?

Background Sickle cell anemia (SCA) is a hereditary disease with defective hemoglobin (Hb) synthesis causing severe hemolytic anemia, pain crisis, and target organ damage. In SCA, several factors independently or in combination lead to derangement in iron stores. Some centers incorrectly prescribe iron therapy on the presumption that SCA would be associated with iron deficiency, but it is not always the case. This study attempts to evaluate the iron status in SCA patients and records the target organ damage present. Methodology A single-center cross-sectional study of 180 patients with sickle cell disease was carried out at a tertiary-care center in Western India. Patients >12 years of age were included in the study after confirming SCA using high-performance liquid chromatography (HPLC). The iron status of each patient was identified and patients were labeled as iron sufficient based on the following values: Hb (8.1-12 gm%), serum iron (S. iron) level (50-150 µg/dl), serum ferritin (S. ferritin) (50-200 ng/ml), and total iron binding capacity (TIBC) (251-450 µg/dl). The iron status of patients with different target organ damage was also analyzed. Results Demographic data revealed that 21-30 years was the most common age group affected by SCA along with a male preponderance. The most common presenting complaint was joint pain (68.9%), the most common sign was pallor (64.4%), most patients had a history of pain crisis (95.6%), and half of the patients had organomegaly (51.1%). Most of the patients had no complications, however, for those who did, hepatopathy (28.9%) was the most common. Conclusion While the majority of patients were iron sufficient, a considerable number had either iron deficiency or iron overload states, which emphasizes the necessity of investigating the iron status before deciding the course of treatment in SCA patients. Although the majority were unaffected, screening for end-organ damage should be carried out in all SCA patients.

Idiopathic Retroperitoneal Fibrosis Presented As Urinary Tract Obstruction.

Retroperitoneal fibrosis (RPF) or Ormond's disease is a very uncommon fibro-inflammatory disease, under the umbrella of systemic autoimmune diseases. The majority of cases are idiopathic, known as idiopathic RPF (IRPF); however, diseases secondary to other causes are also seen in clinical practice. The commonest presenting features are seen due to the effects of fibrous tissue around iliac vessels, aorta and ureters, where compression of ureters is the major and most common complication. Computed tomography (CT) scans and magnetic resonance imaging (MRI) are the modalities of choice for the diagnosis. The primary management involves medical therapy with corticosteroids and reserving surgical options for ureteric obstruction and related complications. We present a case of a 65-year-old man who presented with bilateral pedal oedema, facial puffiness, decreased appetite, decreased urine output, and breathlessness with dry cough, tachypnoea, hypoxia and crepitation in both lung fields on examination. The blood investigations were suggestive of acute kidney injury (AKI); whereas radio imaging diagnosed him as a case of bilateral hydroureteronephrosis with RPF. The patient was treated for AKI in the case of IRPF. Once the patient stabilized, a low-dose systemic steroid was started for IRPF, and subsequently, the patient underwent stent placement surgery for ureteric obstruction. RPF, being a rare disease, is difficult to diagnose. However, CT and MRI scanning can easily reveal fibrous tissue surrounding the aorta and ureters. Medical management with glucocorticoids is the backbone drug for the disease, keeping surgery as a reserved option for ureteric obstruction and its complications.

Emphysematous Cystitis: A Fatal Complication of Uncontrolled Type-2 Diabetes Mellitus.

Emphysematous cystitis (EC) is a rare type of complicated urinary tract infection mostly seen in elderly females with diabetes, characterized by gas within the bladder lumen and wall. The presenting symptoms are variable, ranging from no symptoms to severe sepsis. The commonly isolated organisms in urine cultures are Escherichia coli and Klebsiella pneumoniae. Imaging studies, namely plain conventional abdominal radiography and computed tomography, are necessary to make a definitive diagnosis of EC. The management includes medical treatment with culture-guided antibiotics, whereas surgical intervention such as cystectomy is rarely required in severe cases. Here, we have a case of a 48-year-old diabetic female diagnosed with EC on radio imaging. The patient was aggressively treated with higher antibiotics such as piperacillin/tazobactam, clindamycin, and fosfomycin along with measures to control blood sugars. However, she developed severe sepsis and succumbed to death. Our report presents one of the rare cases of EC as a life-threatening complication in diabetics, suggesting that every case of urinary tract infection in uncontrolled diabetics should be thoroughly investigated and treated to prevent fatal complications.

A Rare Phenotype of Inherited Cerebellar Ataxia.

Ataxia is a syndrome of imbalance and incoordination, categorized as hereditary ataxias, degenerative ataxias (non-hereditary), and acquired ataxias. Hereditary ataxia is further classified based on its mode of inheritance. Here, we have reported a case of early-onset autosomal recessive cerebellar ataxia with retained reflexes in a young male with positive family history. A young male presented with ten years history of tremors in both hands and head, aggravated with work and relieved with rest, and imbalance while walking, which has now progressed to the level where the patient cannot walk without support. The patient's younger brother also had a similar history. Central nervous system examination revealed cerebellar ataxia with retained reflexes. After ruling out other causes of ataxia in this age group by investigations, we could make the diagnosis of early-onset cerebellar ataxia with retained tendon reflexes (autosomal recessive). Presenting as a disease of variable presentation, the important diagnostic cues are classification and localization of ataxia. The investigations should be focusing on those cases of ataxias that are treatable. Family history is important to identify hereditary ataxias, as well as in genetic counselling of the affected patients.

Mucormycosis, Diabetes and COVID-19 Pneumonia: Unleashing the Facts.

Background Mucormycosis (MM) is an angioinvasive locally destructive fungal infection. Before the coronavirus disease 2019 (COVID-19) pandemic, it was associated with diabetes (particularly diabetic ketoacidosis), immunosuppressive drugs and trauma. Among its various forms, cerebral invasion is considered to be highly fatal even if with long-term treatment. Treatment with injection amphotericin B (Amph-B) with early surgical interventions is highly efficacious. Liposomal preparation is considered to be superior in the context of fewer side effects. Methods We present a single-centre prospective study of 124 patients with MM in a tertiary care hospital. After the approval from the ethics committee, basic information was taken from all patients including all available past history about the COVID-19 infection and treatment. The studied outcomes were discharge, death and number of days of hospitalisation. Secondary objectives were to estimate the association of MM with known risk factors, to find the association of an outcome with various inflammatory markers, to determine adverse events with the use of injection Amph-B and posaconazole and to find the case fatality rate of MM. Results In our study, we observed that the number of patients with MM was double in the less than 60 years age group. However, mortality was 33.3% in the elderly as compared to 15.29% in patients less than 60 years of age. The majority of the patients (69.35%) were males, but no significant difference in mortality was seen between males and females. The case fatality rate was 20.97%. Ocular symptoms such as orbital swelling and pain were the common presenting symptoms. Almost all patients (93.54%) were diabetics. The non-diabetic group consisted of only 8 (6.4%) patients, and therefore, the comparison was not possible. A total of 20 (16%) out of 124 patients who had received high-dose steroids showed higher mortality (55%). Maximum patients (65.32%) had presented with MM following a past COVID-19 infection. However, a significant number of MM patients (20.96%) had a recent COVID infection and had higher mortality (57.69%) compared to their counterparts. The most common site of involvement in our study was the paranasal sinus (50%) and the outcome was the best in those patients whose disease was localised only to the sinuses, although among 14 (11.29%) patients with cerebral involvement, mortality was maximum (42.85%). Renal impairment and dyselectrolytemia were the most common adverse effects of Amph-B, and 46.42% of patients required surgical removal of the local part. Conclusion We saw that diabetes was a major contributory factor in the etiopathogenesis of MM. COVID-19 could also be a major causative factor by impairing the immune system; however, further studies at the molecular level are required to establish an association. The use of steroid cannot be the only independent risk factor, and other associated factors must be present. Treatment with antifungal and early surgical intervention had good outcomes. Treatment with conventional lyophilized Amph-B was equally efficacious as lipid-based solutions, but with more side effects. Hypokalemia and hypocalcemia were the most common electrolyte abnormalities associated with the use of injection Amph-B. Uncontrolled diabetes, the severity of the COVID-19 infection at presentation, acidosis, a high C-reactive protein level (above 100) and local brain involvement were associated with a poor outcome.