BACKGROUND: The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resulting in impaired vitamin B12 processing. While cblC defect typically manifests with hematological and neurological symptoms, renal involvement is increasingly recognized but remains rare.
METHODS: We describe a 7-month-old male patient presenting with fatigue and edema. His first laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia and proteinuria and further examinations reveals hemolysis in peripheric blood smear. During his follow up respiratory distress due to pleural effusion in the right hemithorax was noticed. And fluid leakage to the third spaces supported nephrotic syndrome diagnosis. The patient\'s condition deteriorated, leading to intensive care admission due to, hypertensive crisis, and respiratory distress. High total plasma homocysteine and low methionine levels raised suspicion of cobalamin metabolism disorders. Genetic testing confirmed biallelic MMACHC gene mutations, establishing the diagnosis of cblC defect. Treatment with hydroxycobalamin, folic acid, and betaine led to remarkable clinical improvement.
CONCLUSIONS: This case underscores the significance of recognizing metabolic disorders like cblC defect in atypical presentations of nephrotic syndrome. Early diagnosis and comprehensive management are vital to prevent irreversible renal damage. While cblC defects are more commonly associated with atypical hemolytic uremic syndrome, this case highlights the importance of considering cobalamin defects in the differential diagnosis of nephrotic syndrome, especially when associated with accompanying findings such as hemolysis. Our case, which has one of the highest homocysteine levels reported in the literature, emphasizes this situation again.

Brown recluse spider bites can lead to severe reactions such as skin necrosis,hemolytic anemia, and multiorgan failure, which can be life-threatening. Therapeutic plasma exchange has been reported to provide clinical benefit for such cases. In thisreport, we present a case of a brown recluse spider bite that was successfully treated with therapeutic plasma exchange and compare it with previous case reports.

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare autosomal recessive genetic disorder caused by a homozygous mutation of the ACP5 gene. Spondyloenchondrodysplasia is a type of immune-osseous dysplasia manifesting with skeletal dysplasia, immunologic dysfunction, and neurological manifestations. We report the case of a six-year-old boy with SPENCDI who presented with post-viral illness Coombs-positive hemolytic anemia, thrombocytopenia, and fever, based on which he was diagnosed with Evans syndrome. He was previously diagnosed with spastic diplegia, short stature, and celiac disease. The diagnosis was confirmed with genetic testing which displayed a homozygous frameshift mutation of the ACP5 gene c.549del p.(Gln184Serfs*28). This case report discusses the clinical presentation of SPENCDI and highlights the importance of considering this rare genetic disorder in patients presenting with short stature, immunologic dysregulation, and neurological involvement.

Babesiosis is a tick-borne illness that can cause a wide variety of symptoms based on the severity of the disease. Mild presentations can be difficult to identify, and as a result, treatment may be delayed. A 75-year-old male presented to the Emergency Department (ED) with weakness, leg pain, and a fall. He was found to be febrile and tachycardic on arrival, and lab work revealed thrombocytopenia and acute renal dysfunction. He was admitted and found to have a Babesiosis infection, requiring treatment with red blood cell exchange and plasma exchange therapy. Tick-borne illnesses should be included in the differential even in low-risk populations and non-endemic regions due to the severity of disease complications.

Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders, of which type II CDA is the most common. Mutations in the SEC23B gene located on chromosome 20 result in this autosomal recessive disorder. In this case report, we present a case of CDA II with unique biopsy findings being detected via genetic testing. A female aged 30 years presented with major complaints of pallor weakness and easy fatiguability since childhood. The patient gave a history of 25 units of blood transfusion, the majority of which were transfused during pregnancy, followed by regular transfusions thereafter. On examination, all her vitals were in the normal range. Pallor, frontal bossing, and malocclusion of teeth were noted. Her laboratory workup showed the following: hemoglobin (Hb): 3.7 g/dl; mean corpuscular volume: 83 fl; mean corpuscular Hb: 29 g/dl; mean corpuscular Hb concentration: 34.9 g/dl; red cell distribution width: 30.4%; reticulocyte count (RC): 6.2%; corrected RC: 1.3%; lactate dehydrogenase: 441 IU/L; direct Coombs test/indirect Coombs test: negative; serum iron: 242 microgram/dl; transferrin saturation: 96.08%; ferritin: 1,880 ng/ml; and normal high-performance liquid chromatography and eosin-5\'-maleimide binding test. The peripheral blood film showed normocytic normochromic anemia with anisopoikilocytosis in the form of a few spherocytes. No immature cells were seen. After obtaining the patient\'s consent, we performed a hereditary hemolytic anemia gene analysis test, which showed homozygous missense variation in exon 12 of the SEC23B gene. The bone marrow examination showed hyperplasia in the erythroid series with dyserythropoiesis, and surprisingly, myelofibrosis grade I-II (WHO 2017) was also observed on biopsy. Patients with CDA type II generally present with variable degrees of anemia along with pallor, icterus, splenomegaly, gallstones, and iron overload. In our case, the diagnosis of CDA type II was made at an adult age. Also, evidence of myelofibrosis was noted in our case, making it worth reporting. The use of a hereditary hemolytic anemia gene analysis panel test came as a rescue for its exact diagnosis. This case report emphasizes the role of molecular genetic testing for early and accurate diagnosis, which, in turn, could help in appropriate treatment planning and proper genetic counseling. The prevalence of CDA type II is still vaguely known; hence, extensive workup of persistent anemias and proper follow-up would be beneficial.

Paravalvular leak (PVL) is an uncommon complication of prosthetic valve implantation, which can lead to infective endocarditis, heart failure, and hemolytic anemia. Surgical reintervention of PVLs is associated with high mortality rates. Transcatheter PVL closure (TPVLc) has emerged as an alternative to surgical reoperation. This method provides a high success rate with a low rate of complications. This article reviews the pathogenesis, clinical manifestation, diagnosis, and management of PVL and complications following TPVLc. Besides, we presented a case of a patient with severe PVL following mitral valve replacement, who experienced complete heart block (CHB) during TPVLc. The first TPVLc procedure failed in our patient due to possible AV-node insult during catheterization. After 1 week of persistent CHB, a permanent pacemaker was implanted. The defect was successfully passed using the previous attempt. Considering the advantages of TPVLc, procedure failure should be regarded as a concern. TPVLc should be performed by experienced medical teams in carefully selected patients.

Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially life-threatening hematologic disorder characterized by hemolytic anemia, thrombocytopenia, renal failure, fever, and neurologic dysfunction. While cases often do not present with all five characteristics (<5%), TTP can be hereditary or acquired, often due to a deficiency or dysfunction of the ADAMST13 enzyme. Here, we describe a case of infection-induced acquired TTP in a middle-aged male with urinary tract infection (UTI) and perianal abscess. Suspicion arose from hematologic abnormalities, fever, thrombocytopenia, acute renal failure, and the presence of an underlying infection. A PLASMIC score of 6 (indicating a 72% probability of ADAMTS13 deficiency) prompted ADAMTS13 level testing, revealing levels <5% with the presence of an inhibitor, confirming TTP diagnosis. Treatment with high-dose steroids and daily plasma exchange yielded a swift platelet response, necessitating only two to three days of plasma exchange. In addition, incision and drainage of the perianal abscess were performed. The patient was discharged on daily prednisone and initiated on four doses of weekly Rituximab to mitigate recurrence risk. This case underscores the importance of early suspicion and treatment in infectious triggers such as UTI/perianal abscess, offering crucial diagnostic and prognostic insights.

A 72-year-old woman with recently diagnosed non-small cell lung cancer, who underwent cardiac bypass and bioprosthetic mitral valve replacement presented to our cancer center with lightheadedness, severe fatigue, and shortness of breath. Initial blood tests showed mild hemolytic anemia. The patient also complained of occasional bright red bleeding per rectum. Esophagogastroduodenoscopy and colonoscopy did not reveal an acute source of bleeding. An initial transesophageal echocardiogram did not show significant valvular or paravalvular abnormalities. Meanwhile, the patient\'s hemolytic anemia worsened. She received eight units of packed red blood cell transfusions. Schematic workup for hemolytic anemia revealed negative Coomb\'s test, positive urine hemosiderin, normal ADAMTS13 activity, and absent splenomegaly. A relook of the patient\'s transesophageal echocardiogram (TEE) showed a small paravalvular leak of the bioprosthetic mitral valve. The patient was referred to a tertiary center, and repair of the perivalvular leak with glue resolved her hemolytic anemia, subsequently improving the lab values, symptoms, and quality of life. This case highlights the schematic workup of hemolytic anemia and also the importance of recognizing the association between hemolytic anemia and valvular abnormalities.

Nalidixic acid-resistant Salmonella enterica serotype Typhi is a well-known cause of enteric fever, and its prevalence is increasing worldwide. However, the incidence of enteric fever complicated by non-immune hemolytic anemia without co-existing thalassemia or glucose-6-phosphate dehydrogenase deficiency is rare. In this case report, we present a case of acute non-immune hemolytic anemia in enteric fever caused by nalidixic acid-resistant Salmonella enterica serotype Typhi.

This case report presents a rare and intriguing clinical scenario involving a 63-year-old male with recurrent left-sided hydroureteronephrosis, hypertension, and hyperlipidemia presenting with fatigue, dyspnea, and weight loss. Laboratory findings revealed anemia, basophilic stippling, spherocytosis, and nucleated red blood cells on the peripheral blood smear, raising concerns for hemolysis. Concomitant iron deficiency anemia led to further investigations, revealing gastritis and a colonic mass. A CT scan revealed splenomegaly with an accessory spleen. The histopathological evaluation identified splenic marginal zone lymphoma (MZL) - a diagnosis supported by flow cytometry. Simultaneously, the patient was found to have a moderately differentiated colorectal adenocarcinoma on colonoscopy. This unique case highlights a rare synchronous occurrence of invasive colonic adenocarcinoma with splenule MZL, an unprecedented finding in medical literature.