Sandip Bartakke

Mycotic aneurysm: An uncommon cause for intra-cranial hemorrhage

Intra-cranial mycotic aneurysms due to an infective process elsewhere in the body constitute an uncommon cause of intra-cranial hemorrhage. The condition carries a grave prognosis. Mycotic aneurysms secondary to infective endocarditis (IE) rarely occur in children. This communication describes a seven-year-old girl who presented with fever and neurological abnormalities. She was diagnosed to have a mycotic aneurysm secondary to IE. Digital subtraction angiography (DSA) confirmed the diagnosis, delineated anatomical details and later detected the complete resolution of the aneurysm following conservative management with intravenous antimicrobial agents.

Recurrent acute transverse myelopathy: association with antiphospholipid antibody syndrome.

A seven-year-old boy presented with a second episode of acute transverse myelopathy. The first episode had reponsed dramatically to methylprednisolone. The manifestations of the second episode did not respond to methylprednisolone or IVIG. He showed persistently raised levels of antiphospholipid antibodies in the serum. Primary conditions like collagen vascular diseases, malignancy, exposure to drugs and HIV infection, which are known to be associated with the raised titers of these antibodies were ruled out clinically and by investigations. Recurrent transverse myelopathy is a rare event in childhood and reports of its association with Antiphospholipid Antibody Syndrome (APLAS) are scanty. The etiological role for these antibodies remains to be established. However, once the diagnosis is established, it may be prudent to treat the condition with agents and procedures to bring about a decrease in their titers. Long-term therapy to prevent thromboembolic complications of APLAS may also be instituted

Thrombotic thrombocytopenic purpura in a case of dengue fever: A rare presentation

Here, we present an unusual occurrence of thrombotic thrombocytopenic purpura (TTP) in a case of dengue fever. Both the conditions are fatal and can result in significant mortality and morbidity if left untreated. In this case, as soon as, we diagnosed the patient as having TTP, we treated her with plasma exchange therapy, steroids, and monoclonal antibodies such as rituximab. The patient responded very well to the treatment and completely recovered from neurological symptoms and laboratory parameters also normalized. Hence, timely diagnosis and starting appropriate treatment immediately are key factors for successful outcome.

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

To the Editor: A 2-mo-old girl, born of third degree consanguineous marriage was evaluated for increasing pallor, failure to thrive and loose motions since one and half months of age. The child was born full term with birth weight of 2.7 kg. Her elder sibling had died of similar illness at the age of 8 mo. Hemogram showed pancytopenia with hemoglobin of 3.6 g/dl, WBC of 2600/mm and platelet count of 9000/mm. Renal function and liver function tests were normal. Other laboratory data were as follows: LDH 1056 U/L (normal range: 313–618), serum folic acid 15.84 ng/ml (normal range: 4.6–18.7), serum vitamin B12 200.5 pg/ml (normal range: 191–663). Bone marrow aspiration revealed erythroid and megakaryocytic hypoplasia, left shifted myelopoiesis with megaloblastic changes suggestive of bone marrow failure with megaloblastic features. The patient was treated with parenteral cyanocobalamin 1 mg daily for five doses followed by four weekly doses. The patient showed dramatic clinical improvement within a week and resolution of pancytopenia by 4th wk. In view of clinical presentation and family history, hereditary transcobalamin II deficiency was suspected. The diagnosis was confirmed by holotranscobalamin level (0 pmol/L; normal range: 19.1–119.3) in the patient’s serum and mutation analysis of the patient and her parents. Sequencing analysis of TCN2 gene identified a homozygous single base pair insertion, c.703_704insA, in exon five in patient’s sample. This insertion causes frame shift and introduces a premature stop codon (T235Nfs*69) (Fig. 1). Both the parents were carriers for the same insertion. The patient was treated with intramuscular cyanocobalamin 1 mg twice a week during infancy and then weekly therapy has been advised to continue lifelong. The child is currently 4-y-old with normal neurological development and hematological paramenters. Fewer than 50 cases and a total of 29 mutations have been reported in the literature [1]. This case report highlights that transcobalamin II deficiency should be * Sandip Bartakke spbartakke@gmail.com

Pearson syndrome masquerading diamond blackfan anemia: a case report

Pearson Marrow Pancreas Syndrome (PS) is an extremely rare multisystem mitochondrial disorder characterized by sideroblastic anemia, pancreatic insufficiency, metabolic acidosis, and other defects with less than 100 cases described in the literature so far. A recent study from Italy estimates incidence of PS as 1 in million births. Patients present in infancy with transfusion dependent severe macrocytic anemia often associated with variable degrees of neutropenia, thrombocytopenia, metabolic acidosis and tissue dysfunction.

Vacuolization of Myeloid Lineage and Multilineage Dysplasia in a Case of Transcobalamin II Deficiency

A 6-month-old male child, born of 3rd degree consanguineous marriage, presented with bronchopneumonia and failure to thrive. On examination, there was pallor and mild hepatosplenomegaly, but no icterus or lymph node enlargement. Hemogram showed pancytopenia with haemoglobin of 4.8 gm/dl, white blood cell count of 4.5 9 10 and platelet count of 45 9 10 per microliters. Reticulocyte count was 1%. LDH level was elevated at 1837 IU/L (Normal range: 225–450 IU/L). Vitamin B12 level was within normal range, however serum homocysteine was high at 47.7 micromole/L. Bone marrow examination showed presence of vacuoles in myeloid precursors (Fig. 1) and dysplasia in erythroid precursors and megakaryocytes (Figs. 1 and 2). The patient was treated with intravenous methylcobalamin daily for seven days with marked clinical improvement. Holotranscobalamin level done at this point was undetectable, confirming diagnosis of transcobalamin (TC) II deficiency. Patient was further put on intramuscular 1 mg methylcobalamin twice per week. At 6 month follow up, patient is thriving well with normal hemogram. Vacuolization of myeloid precursors is seen in Pearson Syndrome, myelodysplastic syndrome and copper deficiency in children. It can rarely be seen in TC II deficiency, a rare genetic disorder presenting during infancy [1]. Similarly, multilineage dysplasia is also an unusual finding of this disorder [2].

Evaluation of Serum Methotrexate Level by Using Chemiluminescent Microparticle Immuno Assay (CMIA)

Abstract Methotrexate (MTX) plays important treatment modalities for several paediatric cancers. Several automated binding assays and chromatographic methods was developed for estimating Methotrexate levels in serum and these methods are time consuming & utility of these methods in hospital set up is minimum. The ARCHITECT Methotrexate Assay by Chemiluminescent Microparticle Immuno Assay (CMIA) technology offers a sensitive & rapid estimation of Methotrexate in serum samples. So aim of this study is to evaluate the performance of ARCHITECT Methotrexate Assay kit in Chemiluminescent Microparticle Immuno Assay (CMIA) technology and to determine the level of serum methotrexate after 48 hours of Methotrexate infusion. ARCHITECT Methotrexate Assay kit was validated as per U.S Food and Drug Administration (USFDA) Bio analytical guidelines. The linearity was found to be in the range of 0.02–1.49 μmol/L with R2 0.99. The ARCHITECT Methotrexate assay showed a maximal Limit Of Detection of 0.0060 μmol/L. The Limit of quantification was found to be 0.04 μmol/L. Recovery of the sample was found to be 98.9 %. The intraday precision study showed a C.V. of 4.48 % at the lowest level and 3.83 % at the highest level where as interday precision study showed a C.V. of 2.14 % at the lowest level and 2.89 % at the highest level. The mean concentration of serum MTX after 48 hours of High Dose Methotrexate Infusion was found to be 0.487±0.357 μMol/L. The ARCHITECT assay is suitable for monitoring serum Methotrexate and showed satisfactory performance in the analysis of low concentrated samples.

A case report of pleuropulmonary blastoma presenting as tension pneumothorax

Pleuropulmonary blastoma (PPB) is a very rare, highly aggressive, and malignant tumor that originates from either lungs or pleura. It occurs mainly in children aged <5 or 6 years. It has poor prognosis with three different subtypes: cystic (type I), combined cystic and solid (type II), and solid (type III). PPB is treated with aggressive multimodal therapies including surgery and chemotherapy. We present a case of PPB in a 3-year-old girl who presented with tension pneumothorax.

Anti-tuberculosis treatment-induced Drug Rash with Eosinophilia and Systemic Symptoms syndrome

Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) syndrome is a life-threatening adverse drug reaction that is distinct from other drug-related reactions. We report a rare case of DRESS syndrome following anti-tuberculosis treatment.

Juvenile granulosa cell tumor associated with Ollier disease

Juvenile granulosa cell tumor (JGCT) is a rare neoplasm of childhood. Interestingly, it is known to be associated with Ollier disease, which is a rare bone disease characterized by multiple enchondromatosis. There is paucity of literature about the co-occurence of these two conditions. However, this association is noteworthy because these two conditions share a common pathogenesis. We report a case of JGCT in a 2.5-year-old female child in which multiple enchondromas mimicking bony metastasis were an incidental finding during routine workup for tumor staging, thus leading to a diagnosis of Ollier disease.