A rare cause of bleeding gastric ulcer: multiple myeloma

The causes of GI bleed are many and varied with peptic ulcers accounting for about 50% cases. Multiple myeloma is the most common lymphoid neoplasm in older adults and accounts for approximately 10% of all hematologic malignancies. Extraosseous manifestations are said to be present in less than 5% of patients with Multiple Myeloma with GI ulcers only being described rarely. In this report we describe a case of a 58 year old lady presenting with weakness, palpitations, gum bleeding with recent onset melena. She had severe anaemia with thrombocytopenia and markedly elevated ESR. An UGI endoscopy revealed a 1x0.5 cm ulcer infiltrated by lymphoplasmacytic cells and histiocytes with a few neutrophils. Serum globulin fraction was markedly high and Serum protein electrophoresis revealed it to be a case of multiple myeloma with Igʎ secreting monoclonal cells. Bone marrow aspirate revealed 40 % plasma cells with some binucleate and trinucleate forms. The patient was diagnosed as stage III multiple myeloma (International staging system) and treated with dexamethasone, zoledronic acid and thalidomide. Our case highlights a very atypical presentation of multiple myeloma and alerts the clinician to keep an eye of suspicion in dealing with peptic ulcer cases especially in the elderly

Snake bite induced delayed hypopituitarism: a rare case report

Hypopituitarism following snake bite induced AKI and dialysis is an uncommon complication. Often the presentation is delayed and Can present with a myriad of features. We present a case of a 27 year old male patient, with past history of snake bite and acute kidney injury (AKI) requiring dialysis and which subsequently resolved, presenting to us with fatigability and weakness, absence of secondary sexual character and poor academic performance. On examination, the patient had pale white and coarse skin. Hoarseness of voice was present. There was proximal upper and lower limb muscle weakness present with pseudo myotonia on examination. There was loss of axillary and pubic hair with low testicular volume. Routine reports suggested mildly elevated creatinine with severely elevated Triglyceride levels. Creatine phosphokinase (CPK) was raised. Hormonal profile revealed low free thyroxine (FT4) and serum 8 a.m. Cortisol but an inadequate increase in thyroid stimulating hormone (TSH) and adrenocorticotropic hormone (ACTH) levels were suggestive of central hypopituitarism. Luteinizing hormone (LH), follicle-stimulating hormone (FSH), Insulin-like growth factor 1 (IGF-1) levels were reduced. Neuroimaging revealed empty sella suggestive of pituitary apoplexy. The above were suggestive of delayed hypopituitarism following post snake bite dialysis mediated pituitary apoplexy. In all cases of snake bite, a common occurrence in our country the possibility of hypopituitarism should be kept in mind and the hormonal profile followed up closely along with the renal parameters

Unusual coexistence between lupus nephritis and neurofibromatosis 1: a case report and review of previous cases

The association of Neurofibromatosis 1 (NF 1), an autosomal dominant genetic disease with autoimmune diseases like systemic lupus erythematosus is rare, five case reports are there in medical literature showing such association. Here we have documented a case of Lupus nephritis associated with Neurofibromatosis 1 diagnosed in the same setting, in a 24 years old female patient presented with oliguria, hypertension, anasarca, cafe-au-lait spots, palmer freckling, subcutaneous nodules, alopecia areata and positive family history for NF 1

Cystathionine β-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children

BACKGROUND: Cystathionine β-synthase (CBS) mediates conversion of homocysteine to cystathionine and deficiency in enzyme activity may lead to hyperhomocysteinemia/homocystinuria, which are often associated with mental retardation (MR). A large number of polymorphisms have been reported in the CBS gene, some of which impair its activity and among these, a T833C polymorphism in cis with a 68 bp insertion at 844 in the exon 8 is found to be associated with mild hyperhomocysteinemia in different ethnic groups. METHODS: The present study is aimed at investigating the association between T833C/844ins68 polymorphism and MR. One hundred and ninety MR cases were recruited after psychometric evaluation. Hundred and thirty-eight control subjects, two hundred and sixty-seven parents of MR probands and thirty cardiovascular disorder (CVD) patients were included for comparison. Peripheral blood was collected after obtaining informed written consent. The T833C/844ins68 polymorphism was investigated by PCR amplification of genomic DNA and restriction fragment length polymorphism analysis, followed by statistical analysis. RESULTS: The genotypic distribution of the polymorphism was within the Hardy-Weinberg equilibrium. A slightly increased genotypic frequency was observed in the Indian control population as compared to other Asian populations. Both haplotype-based haplotype relative risk analysis and transmission disequilibrium test reveled lack of association of the T833C/844ins68 polymorphism with MR; nevertheless, the relative risk calculated was higher (>1) and in a limited number of informative MR families, preferential transmission of the double mutant from heterozygous mothers to the MR probands was noticed (χ(2 )= 4.00, P < 0.05). CONCLUSION: This is the first molecular genetic study of CBS gene dealing with T833C/844ins68 double mutation in MR subjects. Our preliminary data indicate lack of association between T833C/844ins68 polymorphism with MR. However, higher relative risk and biased transmission of the double mutation from heterozygous mothers to MR probands are indicative of a risk of association between this polymorphism with mental retardation

Two unusual neuro-psychiatric manifestations of malaria in a tertiary care hospital: a review of literature

Malaria, a highly prevalent parasitic disease in tropical country, have some atypical neuro-psychiatric manifestations seen in both vivax and falciparum malaria. We are reporting two cases of unusual neuro-psychiatric manifestations of malaria admitted in our hospital, one with intralobar haemorrhage and other with atypical psychiatric features. The rarity of the presentation has been highlighted with possible pathogenesis discussed after literature review

Quadriparesis due to Gitelman′s syndrome diagnosed with thiazide diuretic test response

Gitelman′s syndrome is characterized by hypocalciuria, severe hypomagnesemia, and prominent muscular involvements such as fatigue, weakness, cramps, and tetany. It is due to mutations in the thiazide sensitive NaCl co-transporter in the distal convoluted tubule. The administration of thiazide diuretics may induce a subnormal increase of urinary Cl− excretion in patients with Gitelman′s syndrome, consistent with the hypothesis that less than normal Cl− is reabsorbed by the thiazide-inhibitable transporter in Gitelman′s syndrome. Thus, we report a case of Gitelman′s syndrome presenting with quadriparesis diagnosed by using thiazide clearance test

Fatal recurrence of pneumothorax in an adult dermatomyositis

Dermatomyositis (DM) is an uncommon idiopathic inflammatory myopathy with characteristic cutaneous involvement that affects children and adults. Association of lung cancer and interstitial lung disease with DM has been well established, but spontaneous pneumothorax is rare. Recurrent spontaneous pneumothorax as a fatal complication in adult DM has not been described until date. We report a rare case of the patient with adult DM who presented with severe dyspnea. Chest X-rays revealed it to be a case of spontaneous pneumothorax. She had a history of a similar episode 15 days back. In the hospital, she was treated with intercostal drain placement, but succumbed despite vigorous resuscitative effort. Our case attempts to highlights the importance of recognizing recurrent pneumothorax as a potential serious complication of the disease