Publications

Leukocytoclastic vasculitis (LCV) is an immune-mediated single-organ vasculitis. It is a self-limiting disorder. Common triggers are drugs, infections, malignancy, or underlying autoimmune conditions. Here we discuss the case of an obese, middle-aged hypertensive female who presented with painful right lower limb swelling and productive cough for the last 5 days. She underwent medical and surgical management and was treated as a case of cellulitis with bilateral pneumonia. During the treatment course, she developed a nonblanchable petechial rash, which initially was attributed to the antimicrobial agent (piperacillin-tazobactam), but the culture report of the purulent sputum provoked the broadening of the differential diagnoses to include alternate causes for the rash, which proved to be a diagnostic dilemma.

A 19-year-old girl from a consanguineous marriage showed signs of delayed motor developmental milestones since infancy, a protuberant abdomen, and failure to thrive. She suffered from cor pulmonale as a result of restrictive lung disease, pulmonary hypertension, and chronic interstitial lung disease. Diagnosed with resistant rickets elsewhere, she was on treatment with Joulie's solution. Physical examination revealed an undernourished state and features of rickets. Laboratory results were suggestive of proximal renal tubular acidosis (RTA), dyslipidemia, postprandial hyperglycemia, and elevated alkaline phosphatase. Skeletal X-rays confirmed rickets, and an abdominal ultrasound showed hepatomegaly. Whole-exome sequencing identified a homozygous missense variant in the SLC2A2 gene (p.Glu486Gly), confirming Fanconi-Bickel syndrome (FBS). Management included phosphorus, bicarbonate, vitamin D supplementation, dietary changes, and conservative care. Follow-up showed improvement in height. Fanconi and Bickel (1949) initially reported the rare disorder known as FBS, which is attributed to mutations in the glucose transporter 2 (GLUT2) transporter gene. Due to its autosomal recessive inheritance, genetic counseling and prenatal diagnosis are essential. To the best of our knowledge, this is the first reported case in the world of a novel genetic mutation causing FBS.

Crohn's disease (CD) is a chronic, recurrent, transmural inflammatory disease with lesions anywhere in the gastrointestinal (GI) tract. Takayasu arteritis (TA) is an idiopathic, chronic, granulomatous inflammatory panarteritis that involves the aorta and its branches, known as "pulseless disease." Crohn's disease and TA are both associated, as both are granulomatous disorders, and multiple cases of simultaneous occurrence of both diseases have been reported. Here we are reporting a rare case of simultaneous CD and TA in a young female who had a large enteroenteric fistula between the colon and jejunum and total occlusion of both subclavian arteries with reformed collaterals. The patient was managed with IV antibiotic, IV fluid, and steroid. This unique presentation underscores the importance of considering a potential association between the two conditions in patients presenting with GI symptoms and vascular symptoms.

Immunoglobulin M (IgM) paraproteinemia is usually associated with either lymphoplasmacytic lymphoma (LPL) or Waldenström's macroglobulinemia (WM). Manifestations due to IgM paraprotein include hyperviscosity, acquired coagulopathy, cryoglobulinemia, vasculitis, and cold antibody-mediated autoimmune hemolytic anemia. These manifestations are seen in variable percentage of patients with LPL/WM. IgM myeloma constitutes only 0.5-1% of all myeloma cases. We describe a middle-aged female who presented with 5C's: cryoglobulinemia, coagulopathy (acquired von Willebrand disease), cold autoimmune hemolytic anemia, clot (thrombosis due to vasculitis), and cloudy vision (hyperviscosity syndrome) attributable to IgM paraprotein, but was diagnosed later with IgM myeloma. IgM is an important differential diagnosis of WM. The current case highlights such diagnostic challenges and their therapeutic considerations.

Paragonimiasis is a parasitic infection endemic in the northeastern states of India. Because the infection is largely restricted to endemic areas, suspecting and establishing a diagnosis are challenging in nonendemic areas. Here, we describe a rare case of paragonimiasis in a nonendemic area. We highlight the importance of meticulous history as well as the practical issues in establishing the diagnosis. We also describe the management and outcome of the patient.

Large vessel vasculitis (LVV) is known to affect the aorta and its branches. Takayasu arteritis (TAK) is a well-recognized LVV. TAK typically manifests with limb claudication, syncope, angina, absent pulses and unequal blood pressure. These symptoms stem from fibrotic and irreversible processes like stenosis and contribute to morbidity and mortality. Early atypical presentations may lead to delayed diagnosis. This underscores the importance of early diagnosis to arrest inflammation and prevent permanent damage. We present three cases where LVV was identified in patients with unusual symptoms, emphasizing the necessity for a high index of suspicion among healthcare providers. This is especially crucial in the primary care setting where patients first encounter general practitioners.

A 39-year-old woman with a 1-year history of seronegative arthritis was admitted for shortness of breath, left-sided chest pain, and joint pains. Upon physical examination, the tips of her right leg's fifth toe showed dry gangrene. Laboratory results revealed proteinuria and positivity for antinuclear antibody, ribonucleoprotein/Smith (RNP/Sm) antibody, Smith, and anti-double-strand deoxyribonucleic acid (DNA) antibody. The chest radiograph showed cardiomegaly, and computed tomography (CT) of the chest revealed pleural effusion. Initial pleural investigations revealed exudative pleurisy, low adenosine deaminase (ADA), and pleural effusion with cytology positive for lupus erythematosus (LE) cells. Rigid thoracoscopy revealed necrotic parietal pleura. Acid-fast bacillus (AFB) yielded positive results with Ziehl-Neelsen stains. Based on the above clinical, cytohistological, and serological findings, a coexistence of lupus pleuritis with tuberculous serositis (TS) was diagnosed in the background of systemic lupus erythematosus (SLE) with renal crisis. After 2 months of antitubercular therapy (ATT) with maintenance dose of steroids, following symptomatic improvement, pulse steroids and cyclophosphamide were initiated for SLE with renal crisis, and ATT was continued for 6 months. Postcompletion of ATT, the patient had complete resolution and was in remission of SLE.

The occurrence of marked leukocytosis in hemoglobinopathies is generally uncommon. Herein, we describe a 41-year-old male patient with a history of chronic alcoholism who presented for the first time with shortness of breath and abdominal distension. On complete blood counts and peripheral smear examination, there was a microangiopathic hemolytic anemia with leukemoid reaction, which turned out to be beta thalassemia trait on hemoglobin high-performance liquid chromatography. He was ultimately diagnosed with beta thalassemia trait in conjunction with chronic alcoholic liver disease and spontaneous bacterial peritonitis. The presence of leukocytosis accompanied by cytopenias in other hematopoietic cell lines and organomegaly presents a considerable diagnostic challenge. Increased leukocyte counts do not invariably indicate leukemia. A comprehensive analysis of the hemogram, which includes an examination of each cell line, relevant indices, and a thorough peripheral smear evaluation in relation to the clinical presentation, is essential for determining suitable investigations and management strategies.

We present the case of a woman in her early 70s with chronic-phase chronic myeloid leukemia (CML-CP), initially diagnosed in 2002. After achieving deep molecular response (DMR) with imatinib for over a decade, the patient discontinued treatment, entering treatment-free remission (TFR) for around 7 years. She later presented with fever, fatigue, and abnormal blood counts. Restarting imatinib led to a near-complete molecular response, emphasizing the potential for late molecular recurrence (LMRec) in TFR, and underscoring the importance of long-term monitoring in CML patients who discontinue tyrosine kinase inhibitor (TKI) therapy.

Isolated acute cerebellar ataxia is a rare neurological complication of enteric fever. It usually presents with speech and gait abnormalities. Cerebellar ataxia is generally masked by various other neurological complications, such as delirium. Here, we report a case of a 24-year-old male with no known comorbidities, who presented with complaints of high-grade fever, slurred speech, and unsteady gait, which was broad based. He also had abnormal cerebellar signs. Initial laboratory investigations showed thrombocytopenia, and blood cultures detected Salmonella Typhi. cerebrospinal fluid (CSF) examination and brain imaging were unremarkable. The patient recovered with ceftriaxone, and a final diagnosis of enteric fever with encephalopathy was made.