Diagnostic Pitfall in β-Thalassemia Trait Screening: A Case of Hb Showa-Yakushiji (HBB:c.332T > C) Coinherited with Gilbert Syndrome.
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HPLC↗
Biomedical subjects
Deepak Bansal
Publications and source records attributed to Deepak Bansal.
Langerhans cell histiocytosis infiltration into pancreas and kidney.
An 18-month-old male presented with a swelling of the neck for 2 months. A presumptive diagnosis of Langerhans cell histiocytosis (LCH) was made on fine needle aspiration cytology from the lymph node. The child received chemotherapy. He remained well for around 10 months, when he represented with loose stools, cough, and respiratory distress. His condition deteriorated over a few hours culminating in death. A partial autopsy revealed LCH infiltration in liver, pancreas, and kidneys along with bronchopneumonia. The pancreatic and renal infiltration by LCH is extremely rare.
Autopsy↗
Multiple constitutional aetiological factors in bone marrow failure syndrome (BMFS) patients from north India.
BACKGROUND AND OBJECTIVES: A large number of patients diagnosed with bone marrow failure syndromes (BMFS), comprising aplastic anaemia (AA) and myelodysplastic syndromes (MDS), remain aetiologically uncharacterized worldover, especially in resource constrained set up. We carried out this study to identify a few constitutional causes in BMFS patients attending a tertiary care hospital in north India. METHODS: Peripheral blood lymphocyte cultures were performed (with and without clastogens) in a cohort of 135 consecutive BMFS patients, in order to detect Fanconi anaemia (FA), Down's syndrome (+21), trisomy 8 (+8) and monosomy 7 (-7). RESULTS: Constitutional factors were detected in 17 (12.6%) patients. FA defect was observed in 24.07 percent (13/54), 16.66 percent (1/6) and 2.85 percent (1/35) paediatric aplastic anaemia, paediatric MDS and adult MDS patients respectively. Down's syndrome was detected in 5.00 percent (2/40) adult aplastic anaemia patients. None of the patients revealed trisomy 8 or monosomy 7. INTERPRETATION AND CONCLUSION: Presence of an underlying factor determines appropriate management, prognostication, family screening and genetic counselling of BMFS patients. Special tests required to confirm or exclude constitutional aetiological factors are not available to majority of the patients in our country. Diepoxybutane (DEB) test yielded better results than mitomycin C (MMC) test in our experience.
Adolescent↗
Interferon therapy in congenital dyserythropoietic anemia type I/II.
Congenital dyserythropoietic anemia (CDA) is a rare disorder, characterized by the association of ineffective erythropoiesis, variable degree of anemia, and erythroblastic morphological abnormalities. alpha-Interferon has been reported to be effective in type I CDA, but efficacy in other types of CDA is uncertain. Encouraged by the reports, we evaluated the efficacy of alpha-interferon in 6 children with CDA. Diagnosis of CDA was established on the basis of clinical profile, distinct morphological findings on light microscopy, and the Ham's test, following the exclusion of the more common causes of hemolysis. Erythrocyte agglutinability and lysis to anti-i and anti-l sera, electron microscopy, and SDS-polyacrylamide gel electrophoresis were not performed, due to nonavailability. There were 3 cases, each, with type I and type II CDA. The mean age was 5.5 years (range: 6 months to 11.5 years). Five of the 6 patients were transfusion dependent. alpha-Interferon was administered subcutaneously for a mean duration of 19 weeks (range: 12-30). The dose ranged from 2.6 to 6.5 million IU/m2/dose. The frequency of injections varied from thrice weekly to alternate days. No favorable effect on hemoglobin, reticulocyte count, or transfusion frequency was observed. alpha-Interferon therapy was found to be ineffective in all the patients. These observations question the use of interferon in CDA until further studies in a larger number of patients establish its efficacy.
Anemia, Dyserythropoietic, Congenital↗
Self induced photosensitive epilepsy.
The authors report a case of a 12-year-old girl who had rare self induced photosensitive epilepsy. She used to move her right hand over the right eye while simultaneously rubbing the forehead since the age of 8. During these episodes she was lost in herself. Lately these episodes were followed by brief spell of unconsciousness. The EEG examination, in its third attempt, revealed bilateral multiple symmetric spikes on photic stimulation. She admitted that she often induced the episode herself and derived pleasure out of it. She responded well to Sodium valproate.
Anticonvulsants↗
Androgens in childhood acquired aplastic anaemia in Chandigarh, India.
This study assessed the efficacy of stanozolol in acquired aplastic anaemia (AA) in children, who were unable to opt for alternative therapies due to financial constraints. It uses a retrospective case-record analysis. Medical records of children with AA who received stanozolol were analysed. Their clinical and haematological profile was studied and the outcome assessed. Forty-nine children with acquired AA received stanozolol (1 mg/kg/day) in the period between January 1991 and December 2000. The median age at diagnosis was 9 years (range: 1.5-13). Thirteen (26.5%) defaulted therapy after periods of 1-4 weeks and 11 (22.4%) died within 2 months of starting treatment. Ten (20.4%) responded, whilst 15 (30.6%) did not. None of the patients with very severe AA responded, two (28.6%) with severe AA responded and eight (38%) with non-severe AA had a response. All responses were partial except one. Median time taken to respond was 11 weeks (range: 1-20). Responders were treated for a median duration of 25 weeks (range: 13-155), and they were followed-up for a median duration of 25 months (range: 3-144). Eight (80%) responders were off drugs for a median duration of 18 months (range: 6-110). Stanazolol is ineffective for severe and very severe AA. As it induced remission in 38% of our patients with non-severe AA, it can be tried in this group if other methods of treatment are unaffordable or have failed. A short history of presentation (< 3 months) and > or = 70% lymphoid cells in marrow correlated with poor prognosis.
Adolescent↗
Wheat grass juice reduces transfusion requirement in patients with thalassemia major: a pilot study.
Wheat grass juice is the juice extracted from the pulp of wheat grass and has been used as a general-purpose health tonic for several years. Several of our patients in the thalassemia unit began consuming wheat grass juice after anecdotal accounts of beneficial effects on transfusion requirements. These encouraging experiences prompted us to evaluate the effect of wheat grass juice on transfusion requirements in patients with transfusion dependent beta thalassemia. Families of patients raised the wheat grass at home in kitchen garden/pots. The patients consumed about 100 mL of wheat grass juice daily. Each patient acted as his own control. Observations recorded during the period of intake of wheat grass juice were compared with one-year period preceding it. Variables recorded were the interval between transfusions, pre-transfusion hemoglobin, amount of blood transfused and the body weight. A beneficial effect of wheat grass juice was defined as decrease in the requirement of packed red cells (measured as grams/Kg body weight/year) by 25% or more. 16 cases were analyzed. Blood transfusion requirement fell by >25% in 8 (50%) patients with a decrease of >40% documented in 3 of these. No perceptible adverse effects were recognized.
Adolescent↗
Transfusion associated graft versus host disease.
Transfusion-associated graft-versus-host disease (TA-GVHD) is a dreaded complication in immunocompromized hosts. The diagnosis is often delayed because of lack of awareness and the non-specific clinical features. More than 90% patients succumb to refractory infections. The only effective preventive measure is administration of irradiated blood products, which must be made available in centers managing immunocompromised patients. We report three cases and discuss pathophysiology and preventive strategies in this communication.
Child↗
Celiac disease presenting with intracranial bleed and ecchymoses.
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Celiac Disease↗
Congenital dyserythropoietic anemia: clinical and hematological profile.
Congenital dyserythropoietic anemia (CDA) is a rare disorder, which manifests clinically with varying degrees of anemia and hepatosplenomegaly. These features are not pathognomic and a diagnosis of CDA is generally considered after other causes of chronic hemolytic anemia have been ruled out. The clinico-hematological profile of 10 patients with CDA is presented in this communication. Six patients had CDA type II and four had CDA type I. Age at onset of pallor ranged from birth to 9 years. Blood transfusion requirements varied from nil to monthly. This is the first report of CDA type I from India.
Anemia, Dyserythropoietic, Congenital↗
Cervical intramedullary tuberculoma: acute presentation and rapid response to medical therapy.
A case of an 11-year-old boy with rapidly progressing quadriparesis with bowel and bladder incontinence is reported. MRI of the spine revealed an intramedullary tuberculoma at the level of C5-7. Investigations further revealed evidence of tuberculosis in the brain and lungs as well. The child made a rapid recovery with medical management alone.
Acute Disease↗
Clinico-haematological profile of pure red cell aplasia in children.
Pure red cell aplasia (PRCA) is a rare disorder, characterized by isolated failure of erythropoiesis. The clinico-haematological profile of 16 patients with PRCA is presented in this communication. Fourteen patients had Diamond-Blackfan anaemia (DBA), one had transient erythroblastopenia of childhood, and one patient had PRCA secondary to carbamazepine. Physical abnormalities were observed in 50 per cent of patients with DBA. Of the nine patients with DBA who were administered prednisolone and had a regular follow-up, four (44.4 per cent) had no response, three (33.3 per cent) responded fully, and two (22.2 per cent) were steroid dependent.
Anemia, Diamond-Blackfan↗
Malignant fibrous histiocytoma (inflammatory variant) in a child presenting as paraparesis.
Malignant fibrous histiocytoma (MFH) in the pediatric age group is extremely rare. Inflammatory variant of MFH is still rarer in children, to the extent that only few case reports of inflammatory variant of MFH are available in the English literature. This report is of a case in a 4-year-old male child, who presented with a chest wall swelling. Fine needle aspiration (FNA) smears showed neutrophilic infiltrate was seen in and around the tumor cells showing a prominent neutrophillic phagocytosis. Possibilities of malignant fibrous histiocytoma, malignant rhabdoid tumor and malignant histiocytosis were offered on cytology. Subsequently, an excision biopsy was performed and was diagnosed as inflammatory variant of MFH. Differential diagnosis of this type of tumor with prominent neutrophillic phagocytosis is discussed with importance of immunostaining for diagnosis. Paraparesis as a presenting feature of inflammatory MFH is rare in children and has not been reported in the literature to the best of our knowledge.
Cell Nucleus↗
Hepatitis-associated aplastic anemia: successful outcome following immunosuppressive therapy.
Hepatitis-associated aplastic anemia is an uncommon variant seen in young, previously healthy individuals. The pancytopenia follows hepatitis by a few weeks and is usually severe and prolonged. Bone marrow transplantation remains the cornerstone of therapy. However, immunosuppressive therapy has been found to be effective. We report an 8-year-old girl who had non-A, B, C and E hepatitis-associated severe aplastic anemia. She became transfusion-independent and had consistent, albeit incomplete recovery after immunosuppressive therapy with antithymocyte globulin and cyclosporine.
Anemia, Aplastic↗