Severe Aplastic Anemia as First Manifestation of Classical Hodgkin Lymphoma

Autoimmune cytopenia, a known paraneoplastic complication of lymphoid neoplasms, may occur before, concurrently, at relapse, or even years after completion of lymphoma treatment. In the case of Hodgkin lymphoma (HL), it is thought that immune dysregulation, typical of this neoplasm, may be involved in the genesis of these manifestations. We report a 57-year-old male presenting with stage IIIA, International Prognostic Score (IPS) 4, nodular sclerosis HL, and severe AA (SAA) confirmed on the histologic exam of the bone marrow that showed severe marrow hypoplasia due to a decrease in the elements of the three cell linages with left shift of the myeloid maturation. Immunosuppression with steroids and cyclosporine A was started. Eltrombopag and G-CSF were also added. In spite of prompt initiation of immunosuppressive therapy, the patient presented an unfavorable outcome with progressive pancytopenia and severe acute cerebral hemorrhagic event. The patient died 59 days after admission. Although autoimmune disorders are described in HL, its concomitant diagnosis is extremely rare. Our case shows a rare instance of SAA as the first manifestation of HL.

Coexistence of disseminated Kaposi sarcoma and multicentric Castleman disease in an HIV-infected patient under viral suppression

Coexistence of multicentric Castleman disease and Kaposi sarcoma is rare and might be missed without an experienced pathologists’ interpretation. A 46-year-old man had been diagnosed with HIV infection and treated with combination antiretroviral therapy of dolutegravir/abacavir/lamivudine (Triumeq) for one year. The latest viral load was 49 copies/mL and CD4 T-cell count was 192 cells/uL. He was admitted due to fever off and on, splenomegaly, general lymphadenopathy, and severe thrombocytopenia for two months. Biopsy of a purplish skin lesion and gastric tissue showed Kaposi sarcoma. The pathology of inguinal lymph nodes revealed coexistence of Kaposi sarcoma and multicentric Castleman disease. The plasma Kaposi sarcoma herpesvirus viral load was 365,000 copies/mL. During hospitalization, progressive pancytopenia and spiking fever persisted, and he died of multi-organ failure before completion of chemotherapeutic treatments with rituximab plus liposomal doxorubicin.

Fanconi anemia

Fanconi Anemia (FA) is a rare potentially life threatening autosomal recessive disorder characterized by progressive pancytopenia, multiple congenital anomalies with multiple type of cancer risk. The presentation may be variable but typical presentation make the diagnosis easy. Diagnosis of FA can be confirmed by chromosome break study which is regarded as the gold standard diagnostic test for FA. Only one case report of FA had been published from Bangladesh till now. Here is the second variety of FA. If FA is confirmed then a set of preventive strategy can be applied. On the other hand misdiagnosis may lead to mismanagement which is not uncommon.Bang Med J (Khulna) 2017; 50 : 46-48

Paroxysmal nocturnal hemoglobinuria (PNH): An atypical case report

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) also called Marchiafava-Micheli syndrome is a rare disease (1.3 case per million inviduals). It is a clonal disorder caused by a medullary stem cells acquired mutations on the PIG-A gene, inducing a partial or general deficit of proteins linking to cell membrane through a glycophosphatidylinositol (GPI) anchor.Case presentation: We confirmed the diagnosis of PNH in a 35-year-old woman presenting a relatively well tolerated but progressive pancytopenia and also a concomitant cyanocobalamin deficiency. The diagnosis was classically obtained through flow cytometry determination of specific disease markers on red blood cells (CD55; CD59; FLAER). After a CD34 selected grafting from his fully HLA-compatible brother as donor, the patient entered in a sustained complete remission of PNH syndrome.Conclusion: After bone-marrow grafting, prolonged complete remission (cure) of PNH presenting primarily as a medullary insufficiency, may be obtained.

Fanconi Anaemia – A Rare Case Report

Fanconi anaemia is a rare and most common form of inherited aplastic anaemia. It is mostly autosmal (except one x link) recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both haematological malignancy and solid tumours. Congenital malformation varies from patient to patient and may affect the skeletal system as well as organ systems. Highly variable phenotypic presentation with clinical menifestations makes difficult for diagnosis in some cases. Chromosomal breakage study induce by Mitomycin-C (MMC)/Diepoxybutane(DEB) provide a unique cellular marker for the diagnosis.The incidence of FA is approximately 1 to 5 per million. In Bangladesh, so far no study or even any case was reported. In this case report, a two years nine months old male child presented with generalized weakness , recurrent episodes of fever and physical deformities. It was found him short stature, microcephaly, trianguler face,generalized hyperpigmentation with café au lait spots,absent both thumbs with flexor deformity of both wrists. Peripheral smear found bicytopenia, bone marrow aspiration and biopsy showed hypoplastic marrow mildly elevated LDH, X-ray and USG showed bone and organ agenesis and chromosomal breakage study is also positive.

Facial palsy: a rare manifestation in Fanconi anaemia

<p class="abstract">Fanconi anemia (FA) is an autosomal recessive genetic disorder characterized by progressive pancytopenia, multiple congenital anomalies, increased susceptibility to acute myelogenous leukemia and epithelial cancers especially in head and neck and GUT. The otologic manifestations in patients with Fanconi anemia is only about 10%. The present case report highlights the rare manifestation of Facial palsy/otologicand other associated anomalies in a 5 year old boy with Fanconi anemia<span lang="EN-IN">.</span></p>

Genotyping Fanconi anemia patients from Serbia reveals three novel FANCD2 variants

Fanconi anemia is rare inherited disease characterized by wide spectrum of congenital anomalies, progressive pancytopenia, and predisposition to hematological malignancies and solid tumors. Molecular genetic analysis of mutations in FANC genes is of a great importance for diagnosis confirmation, prenatal and carrier testing, as well as for prediction of chemotherapy outcome and disease complications. In this study we performed screening of frequently affected regions of FANCD2 gene for sequence variants in six unrelated FA-D2 patients in Serbia. This is the first molecular analysis of FANCD2 gene in Serbian FA-D2 patients. A total of 10 sequence variants were detected, one in homozygous, and nine in heterozygous state. Two variants were found within exons, and eight within introns, in deep intronic regions. In-silico analysis showed that among all detected variants one exon variant and three intron variants might have impact on splicing mechanism. Heterozygous variants found in intron 3, c.206-246delG; exon 26, c.2396 C>A and intron 28, c.2715+573 C>T were not previously reported. In-silico analysis revealed that among them, two (intron 3, c.206-246 delG and exon 26, c.2396 C>A) could be novel disease-causing mutations. Many variants were found in more than one patient, including those unreported, indicating their possible ethnic association. Great number of variants in some patients suggests their non-random emergence in Fanconi anemia pathway.

Hemophagocytic Syndrome Secondary to Cytomegalovirus Infection in an Infant

Haemophagocytic syndrome caused by CMV infection in a one month old infant is rare. Cytomegalovirus can cause congenital or perinatal infection in an infant. We report a case in a baby who had secondary haemophagocytic syndrome. The baby had progressive pancytopenia, hepatosplenomegaly and diagnosed to be infected with CMV. Inspite of aggressive management the baby succumbed to death. CMV infection in a neonate may predispose to haemophagocytic syndrome.J Nepal Paediatr Soc 2016;36(1):88-90.