Severe Factor X Deficiency Presenting as Febrile Seizure in an Infant.

Factor X deficiency is a severe inherited coagulation disorder, which is characterized by severe systemic bleeding manifestations in affected individuals. It is a rare disorder with a frequency of around 1:1,000,000 in the general population. We present the case of an infant with factor X deficiency who presented with complex febrile seizure. Although febrile seizures are very common in children, a closer scrutiny leads to neuroimaging and finding of intracranial bleed. Hematologic and genetic investigations confirmed the diagnosis. A high index of suspicion should be maintained to diagnose uncommon bleeding disorders in children.

Successful Myeloablative Matched Unrelated Donor Hematopoietic Stem Cell Transplantation in a Young Girl With GATA2 Deficiency and Emberger Syndrome.

Patients with GATA2 (Emberger syndrome) deficiency needs early hematopoietic stem cell transplant (HSCT) before evolving in to myelodysplastic syndrome or acute myeloid leukemia and with time given compromised organ dysfunction leads to increase regimen-related toxicities. Most published cases have used nonmyeloablative conditioning regimens, show higher incidences of rejection and relapse rates and umbilical cord blood transplant has been reported to be suboptimal in patients with GATA2 deficiency because of longer period of engraftment leads to more infections and mortality. We report a 4.5-year-old girl with GATA2 deficiency who underwent matched unrelated donor HSCT utilizing a myeloablative conditioning regimen including intravenous busulfan (total dose of 12.8 mg/kg) and fludarabine (total dose of 160 mg/m) She tolerated the conditioning regimen and bone marrow infusion well. Her initial chimerism was mixed (90% donor), cyclosporine was gradually weaned and discontinued at day+85 and this resulted in conversion to full-donor chimerism. Bone marrow assessment 3 months post-HSCT revealed normal hematopoiesis and absence of monosomy 7. At 20 months of follow-up she had full-donor chimerism with complete reconstitution of the all hematopoietic stem cells. Myeloablative matched unrelated donor HSCT represents an effective option for cure in patients with GATA2 deficiency and Emberger syndrome.

Isolated bilateral uveitis in child with hypereosinophilic syndrome.

The ocular involvement has rarely been described in hypereosinophilic syndrome (HES). We report an 8-year-old girl with HES and isolated bilateral uveitis as end-organ damage. Almost 20 months after detection of persistent asymptomatic eosinophilia, she developed complete loss of vision in right eye due to retinal detachment and decreased vision in left eye. We treated this organ-threatening condition with prednisolone and imatinib mesylate, although she was negative for FIP1L1-PDGRFA fusion gene. The vision in her left eye returned to normal. At present, the child is on alternate-day low-dose prednisolone and daily imatinib. Early recognition and aggressive treatment is essential in HES with ocular involvement to save vision. Imatinib is a useful adjuvant drug even in PDGRFA/FIP1L1-negative HES.

Outcome of pediatric acquired aplastic anemia: a developing world experience.

INTRODUCTION: Outcome data of children with acquired aplastic anemia (AA) are lacking from the developing world. Here, we describe the same from a centre in North India. METHODS: Retrospective data regarding medical history, physical examination, complete blood count, bone marrow aspirate, and biopsy were retrieved for all children <18 years, with acquired AA admitted between January 2005 and June 2012. In addition, the outcome data after immunosuppressive therapy (IST) or bone marrow transplant (BMT) was obtained. RESULTS: A total of 61 children were diagnosed with AA (Inherited-18 and acquired-43). Among 43 children with acquired AA, 3 had nonsevere and 40 had severe. One patient with nonsevere AA died of sepsis and 2 recovered spontaneously. Of the 40 remaining children with severe AA, 10 refused therapy and 3 died due to severe sepsis prior to any therapy. Five underwent upfront matched sibling donor BMT and one post-IST failure. Four year overall survival (OS) and event free survival (EFS) for children undergoing BMT was 100% and 80 ± 17.9, respectively. Out of 22 treated with IST, 20 were evaluable for response. Seventeen received one course and 3 received two course of IST. The overall response to IST was seen in 14/20 (70%). Only two achieved complete response while remaining 12 had partial response. The 4-year estimated OS and EFS for children treated with IST was 74.4 ± 12.1% and 65.6 ± 12.2. CONCLUSION: Outcomes for children with AA are encouraging in the developing world although barriers like sepsis and treatment abandonment remain. BMT offers faster and complete recovery.

Hemophagocytic lymphohistiocytosis in infants: a single center experience from India.

There is paucity of outcome data for hemophagocytic lymphohistiocytosis (HLH) in infants from India, especially post stem cell transplant (SCT). We report outcome data of eight infants diagnosed with HLH. Mean age was 7.1 months (range 2-11). Mutation analysis was possible in seven patients. One patient had Griscelli syndrome. In three patients, no known mutation could be identified, while in remaining three homozygous mutations in Perforin, Munc and STX11 gene were identified. All were treated as per HLH 2004 protocol. Four died during induction phase. One patient abandoned therapy. Two underwent SCT, while one is awaiting SCT. First patient is alive and disease-free at 22 months postmatched sibling donor SCT. Second underwent unrelated double cord blood transplant, but died 5 months posttransplant due to renal failure. It is feasible to offer SCT for infants with familial HLH in the developing world although barriers like sepsis and disease refractoriness remain.

Barriers to cure for children with cancer in India and strategies to improve outcomes: a report by the Indian Pediatric Hematology Oncology Group.

The survival of children with cancer in India is inferior to that of children in high-income countries. The Indian Pediatric Hematology Oncology Group (IPHOG) held a series of online meetings via www.Cure4kids.org to identify barriers to cure and develop strategies to improve outcomes. Five major hurdles were identified: delayed diagnosis, abandonment, sepsis, lack of co-operative groups, and relapse. Development of regional networks like IPHOG has allowed rapid identification of local causes of treatment failure for children with cancer in India and identification of strategies likely to improve care and outcomes in the participating centers. Next steps will include interventions to raise community awareness of childhood cancer, promote early diagnosis and referral, and reduce abandonment and toxic death at each center. Starting of fellowship programs in pediatric hemato-oncology, short training programs for pediatricians, publishing outcome data, formation of parent and patient support groups, choosing the right and effective treatment protocol, and setting up of bone marrow transplant services are some of the effective steps taken in the last decade, which needs to be supported further.

Eyelid nodule: a rare presentation of Langerhans cell histiocytosis.

Langerhans cell histiocytosis occurring as an isolated tumor of eyelid has rarely been reported. We report an unusual case of a 5-year-old boy who presented with a smooth nodular lesion over the right lower eyelid accompanied with hyperemia for a month. The biopsy and CD1a positivity confirmed it to be Langerhans cell histiocytosis. It was localized to the eyelid as no other organ was involved. Although Langerhans cell histiocytosis of the eyelid is exceptional, it must be included in the differential diagnosis of eyelid nodular lesions and the diagnostic and the subsequent management must be multidisciplinary.

ALK-positive anaplastic large cell lymphoma of skeletal muscle masquerading as soft tissue sarcoma.

Anaplastic large cell lymphoma (ALCL) is a subtype of T cell non-Hodgkin's lymphoma and can present as an extranodal disease. Primary ALCL of skeletal muscle is rare. We report a case of ALK-positive ALCL involving the left thigh and anterior chest wall in a 12-year-old male child. The fine needle aspiration cytology from the lesion showed cellular smears with singly scattered and occasional clusters of large pleomorphic atypical cells. A diagnosis of poorly differentiated malignant neoplasm was rendered. On core biopsy, the histomorphological features posed a diagnostic challenge with a myriad of morphological mimickers. The diagnosis was established by excluding specific entities by relevant immunostains and confirming the diagnosis by strong expression of CD30 and ALK on immunohistochemistry. Fluorescence in-situ hybridisation confirmed the characteristic t(2:5) translocation. Presentation of ALCL with skeletal muscle involvement is uncommon, and the diagnosis relies on broadening the diagnostic possibilities and judicious use of immunohistochemical markers.

In vitro neurogenesis from neural progenitor cells isolated from the hippocampus region of the brain of adult rats exposed to ethanol during early development through their alcohol-drinking mothers.

AIMS: This study was aimed to determine whether ethanol exposure during early development altered neurogenesis in the brain of adult rats. METHODS: Pregnant rats were given either ethanol-mixed or mannose-mixed (for control) rodent liquid diet ad libitum. Ethanol drinking continued during pregnancy and nursing. After weaning, the pups (AC(o): pups from control mothers, AE(o): pups from ethanol exposed mothers) received normal diet and water ad libitum for 11 weeks. Then the rats were anesthetized, their brains were collected and the hippocampal samples were processed for isolation of neural progenitor cells (NPCs). AC(o) NPCs and AE(o) NPCs were sequentially grown in media containing different growth factors that induced proliferation and differentiation. RESULTS AND CONCLUSIONS: Neuronal maturation was significantly delayed in ethanol-exposed rats. AC(o) NPCs, up to day 7 of culture, exhibited high beta-catenin-probe binding, an increase in Ca(2+) when exposed to gamma-amino butyric acid (GABA) and lack of response to glutamate (Glu) exposure. beta-Catenin-probe binding and the stimulatory effects of GABA declined thereafter. AC(o) NPCs, at culture day 29, exhibited high beta-catenin-probe binding, lack of response to GABA and elevated Glu-induced increase in Ca(2+i). Cultures of AE(o) NPCs showed an amplified stimulatory effects of GABA, attenuated stimulatory effects of Glu and attenuated the delayed (culture day 29) increase in the expression of Wnt proteins and beta-catenin-probe binding. This suggests a significant alteration in neurogenesis and synapse formation in adult rats exposed to ethanol at early development through their alcohol-drinking mothers.

Prognostic factors of maternal near miss events and maternal deaths in a tertiary healthcare facility in India.

OBJECTIVE: To study maternal near miss (MNM) and maternal mortality to identify rectifiable risk factors. METHODS: The present cross-sectional retrospective study included pregnant women who experienced acute life-threatening pregnancy-related adverse events at Deen Dayal Upadhyay hospital, New Delhi, India, between September 1, 2009, and August 31, 2011. Patient data were analyzed to investigate factors associated with MNM events and maternal deaths. RESULTS: There were 369 patients included, and 302 MNM events and 67 maternal deaths were recorded. The recorded causes of MNM events included hemorrhage, hypertensive disorders, severe anemia with cardiac failure, organ failure, and infection in 192 (63.6%), 62 (20.5%), 13 (4.3%), 8 (2.6%), and 8 (2.6%) patients, respectively. Higher rates of anemia (P=0.007) and infection (P=0.007) were recorded among patients in the maternal death group than the MNMN group. CONCLUSION: Hemorrhage and hypertension were major causes of MNM events and are likely major barriers to reducing maternal mortality in low-income countries. Anemia and infection were significant prognostic factors of maternal death in the present study. MNM could be used as surrogate for maternal death in the provision of standard obstetric care.

Comparative Study Of Tendon And Nerve Gliding Exercises Versus Kinesiotaping For Carpel Tunnel Syndrome

Background: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy, with a reported annual incidence per 100,000 persons ranging from 324 to 524 among women and 135 to 303 among men There are several treatment options which they can be broadly categorised into surgical and non-surgical. The various nonsurgical methods include: use of hand brace, splinting of the wrist, ultrasonic therapy, laser therapy, oral steroids, non-steroid anti-inflammatory drugs (NSAIDs), oral vitamin B6, local injection of corticosteroids, transcutaneous electrical nerve stimulation. There are a limited number of studies on the effectiveness of kinesiotaping in CTS. The purpose of this study was to evaluate the therapeutic efficacy of ultrasound treatment combined with nerve and tendon gliding exercises and kinesiotaping and to compare the two regimens. Materials and methods: In the present study a convenience sample of 20 individuals between 25 to 55 years suffering from mild to moderate carpel tunnel syndrome were randomly and evenly divided into 2 groups : Group A ( Tendon and Nerve gliding exercises ) & Group B ( Kinesio taping). Group A received Ultrasound over the area of carpel tunnel along with tendon and nerve gliding exercises 5 times a week for 2 weeks. Group B received Ultrasound 5 times a week over the carpel tunnel area along with kinesiotaping with 5 day interval for 2 weeks. At the end of 2 weeks the outcome measures which included VAS, Boston CTS Questionnaire assessed in both the groups and the data was statistically analysed. Results: Intragroup analysis of both groups pre and post intervention showed statistically significant values for both the outcome measures VAS and BCTS Questionnaire ( p value< 0.05). Intergroup analysis also showed statistically significant values for outcome measures inferring that Group B was better than Group A (p value< 0.05). Conclusion: The study concluded that both kinesiotaping along with Ultrasound as well as tendon and nerve gliding exercises with ultrasound are effective in reducing pain and improving functional activities in patients with Carpel Tunnel Syndrome. Kinesiotaping with Ultrasound is more effective than tendon and nerve gliding exercise

Langerhans cell histiocytosis presenting as isolated mediastinal mass in an infant.

BACKGROUND: Isolated mediastinal involvement in Langerhans cell histiocytosis (LCH) has been rarely reported. CASE CHARACTERISTICS: A 3-month-old boy presented with history of low grade intermittent fever, cough and noisy breathing for 2 weeks. OBSERVATION: A chest X-ray showed massive mediastinal widening. Biopsy of the mass confirmed LCH. OUTCOME: Patient is doing well after one year of treatment with LCH III protocol. MESSAGE: Langerhans cell histiocytosis should be considered in differential diagnosis of mediastinal mass in infants.

Juvenile myelomonocytic leukemia in India: cure remains a distant dream!

There is paucity of outcome data regarding juvenile myelomonocytic leukemia from India. We report a series of eight children. Three had monosomy 7 and one had complex cytogenetics. One with Down's syndrome recovered spontaneously. Three refused therapy of whom only one is alive with disease. One died post chemotherapy. Three underwent allogeneic stem cell transplant after protracted delay with funds arranged from various governmental and non-governmental organizations. Of these two died (relapse-1 and intracranial bleed-1) and one is alive and disease free. In India, it's a milestone to reach transplant due to high cost and cure still remains a distant dream.

Effect Of Bilateral Ankle Joint Mobilisation On Functional Balance In Community Dwelling Elderly

Background: Falls are most frequent cause of accident related injury and are frequently associated with accident related death in the elderly. While an individual’s risk for falling is associated with a variety of sensory, motor, cognitive and environmental variables, it ultimately depends on their frequency of loss of balance episodes and their ability to recover balance by stepping, grasping or swaying (via the ankle strategy or hip strategy). Although visual, vestibular and somatosensory functions are known to be contributing factors in maintaining balance, they are not as easily altered as muscle strength and joint range of motion and stiffness. The study aimed To assess the effects of bilateral ankle joint mobilisation on functional balance in community dwelling elderly Materials and methods: In the present study a convenience sample of 60 community dwelling elderly between the age 65 to 75 years wererandomly and evenly divided into 2 groups :The Experimental Group &Control Group.For the purpose of selecting the subject in the study they were evaluated with the Time Up And Go Test.Maitland joint mobilization three times a week for four weeks was performed for bilateral ankle joint for the experimental group.The Control group were not given any exercises during the study protocol. At the end of 4 weeks, the outcome measures Functional Reach Test (FRT) andOne leg Stance Test (OLST) were assessed pre & post intervention in both the groups and the data was statistically analysed. Results: Intragroup analysis of both groups pre and post intervention showed statistically significant values for both the outcome measures FRT and OLST ( p value< 0.05). Intergroup analysis also showed statistically significant values for outcome measures inferring that experimental group was better than the control group (p value < 0.05). Conclusion:The study concludes that Ankle joint mobilisation helps in improving the dynamic balance in elderly individuals.

Dengue fever causing febrile neutropenia in children with acute lymphoblastic leukemia: an unknown entity.

Dengue fever is endemic in many parts of the world but it has not been described as a cause of febrile neutropenia. We describe here clinical features, laboratory values and outcome in 10 children with acute lymphoblastic leukemia (ALL) and with dengue fever as a cause of febrile neutropenia. These data are compared to an age-matched control population of 22 children with proven dengue infection without ALL. Except for fever in all patients and plethoric face in one patient, typical symptoms of dengue such as abdominal pain, myalgias, and headaches, were absent. Mean duration of hospital stay was 6.3±2.0 days in ALL patients vs. 5.0±2.0 in controls (p=0.096). Median platelet count was 13,000/cmm (range 1000-28,000) in cases vs. 31,500 (range 13,000-150,000) in controls (p=0.018). Mean time for recovery for platelet was 6.0±1.3days in ALL patients vs. 2.5±0.9days in controls (p<0.001). All 10 patients survived. In endemic areas, high suspicion of dengue fever should be maintained in children with ALL and febrile neutropenia although typical symptoms may be lacking. Platelet recovery may be significantly delayed.

Post-dengue fever severe aplastic anemia: a rare association.

Dengue fever has rarely been reported as an etiology for aplastic anemia. An 8-year-old girl was admitted with fever, myalgia and petechiae. Dengue virus IgM antibodies were positive. She recovered completely, but her thrombocytopenia persisted. Six weeks later she became pancytopenic. A bone marrow aspirate and biopsy showed severe aplastic anemia. She was treated with antithymocytic immunoglobulin, methylprednisolone and cyclosporine. She became transfusion independent 6 months later. Dengue-virus induced aplastic anemia is a rare entity, but it must be identified early for better outcome. Immunosuppressive therapy can induce remission.