Fanconi anemia: in all its glory

Fanconi Anemia (FA) is a rare autosomal recessive disorder affecting multiple body systems. The diagnosis is based on morphological abnormalities, hematological abnormalities (pancytopenia, macrocytic anemia & progressive bone marrow failure) and genetic testing. However, genetic testing is complicated for FA because there are often many genes that are associated with its development, and large duplications, deletions or sequence variations are frequently observed in some of these genes. We report a patient with cytogenetically confirmed Fanconi anemia. Although morphological abnormalities were present from birth, diagnosis was suspected and made at 8 years of age when he presented to us. We report this case to create awareness among clinicians to use modern modalities of diagnosis for such cases in addition to the clinical assessment. This would further help these children reach their adulthood with good quality of life

Osteogenesis imperfecta: an atypical association

Osteogenesis Imperfecta (OI) also known as ‘brittle bone disease’, is a clinically heterogeneous connective tissue disorder with defect in type I collagen. The more prevalent autosomal dominant forms of OI are caused by primary defects in type I collagen, while autosomal recessive forms are caused by deficiency of proteins which interact with type I procollagen for post-translational modification and/or folding. Few cases of OI associated with atypical features have been reported. We report a case of 54 days male child of OI associated with pyloric stenosis. The case probably is a form of autosomal recessive OI with severe phenotype

Unilateral proptosis: extramedullary manifestation of acute myeloid leukaemia

Unilateral proptosis as a sole presentation of acute myeloid leukaemia is not very common. A systematic approach and a peripheral blood smear can help detect and arrest this fatal disease at an early stage. We present a case of acute myeloid leukaemia presenting as unilateral proptosis that was successfully treated with chemotherapy and is in remission