Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome

Author(s):  
Shijing Wu ◽  
Zhisheng Yuan ◽  
Zixi Sun ◽  
Fengxia Yao ◽  
Ruifang Sui
2019 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Sheffali Gulati ◽  
Priyanka Madaan ◽  
Prashant Jauhari ◽  
ShruthiN Michael ◽  
Aditi Sinha ◽  
...  

2011 ◽  
Vol 81 (5) ◽  
pp. 328-334 ◽  
Author(s):  
Oya Halicioglu ◽  
Sezin Asik Akman ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Meral Turker ◽  
...  

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.


Author(s):  
Harimohan Garg ◽  
Haritej Anand Khirawari ◽  
Sona Priyadarshi

Background: Pancytopenia is diagnosed when there is a reduction in all three hematopoietic cell lines. Till date there is limited number of studies on the frequency of various causes of pancytopenia. Of these some have been reported from the Indian subcontinent. There appears to be a changing spectrum of pancytopenia over the past two decades. The objective was to study the etiopathological spectrum of adult patients with pancytopenia over a period of one and half year. Methods: The Prospective and retrospective observational study was conducted in the Department of Family Medicine, Batra Hospital and Medical Research Centre, New Delhi.  A total of 120 Patients were included in the study. All patients gave their consent to take part in the study and were subjected to a questionnaire regarding symptoms, past relevant history, lifestyle and detailed clinical examination and investigations as mentioned in materials and methods. Results: Six broad diagnostic groups could be identified in adults with pancytopenia. Megaloblastic anemia (D1) was the largest group comprising 57.5% of all patients. 11.7% of patients with pancytopenia were diagnosed as Aplastic anemia (D2).11.7% of patients with pancytopenia were diagnosed as leukemia/lymphoma (D3) such as lymphoma (1), metastatic anaplastic carcinoma (1), acute leukemia (11), and metastatic gastric carcinoma (1). 15% of patients with pancytopenia were diagnosed with infections (D4) such as complicated malaria cases (7), HIV (5), disseminated tuberculosis (4), viral (2). We also encountered (D5) 0.8% was Myelophthisis/Storage disorder as myelodysplastic syndrome (1) and 3.3% were other (D6) as reactive marrow (4). Conclusion: Pancytopenia is not a disease itself. It is a hematological feature of varying etiology with slight male preponderance. Megaloblastic anemia along with mixed nutritional anemia is leading cause of pancytopenia in India followed by infections being second and aplastic anemia and acute leukemia being third common causes. Keyword: Pancytopenia, Megaloblastic anemia, Nutritional anemia.


2019 ◽  
Author(s):  
Manel Jemel ◽  
Manel Jemel ◽  
Maroua Ben Jemaa ◽  
Hajer Kandara ◽  
Houda Jemni ◽  
...  

2007 ◽  
Vol 10 (4) ◽  
pp. E329-E330 ◽  
Author(s):  
Jia-Lin Chen ◽  
Tsai-Wang Huang ◽  
Po-Shun Hsu ◽  
MD Chao-Yang, ◽  
Chien-Sung Tsai

2020 ◽  
Author(s):  
Stephen R. Russell ◽  
Arlene V. Drack ◽  
Artur V. Cideciyan ◽  
Samuel G. Jacobson ◽  
Bart P. Leroy ◽  
...  

2017 ◽  
Vol 6 (12) ◽  
pp. 5562
Author(s):  
Tiana Mary Alexander ◽  
Vineeta Pande ◽  
Sharad Agarkhedkar ◽  
Dnyaneshwar Upase

Megaloblastic anemia is a common feature between 6 months – 2 years and rarely occurs after 5 years of age, especially in a child consuming non-vegetarian diet. B12 deficiency may occur after 5 years of age because of chronic diarrhea, malabsorption syndrome, or intestinal surgical causes. Pernicious anemia causes B12 deficiency, but nutritional B12 deficiency with subacute combined degeneration causing ataxia is rare.


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