Infantile tremor syndrome: Case report

Infantile tremor syndrome (ITS) is a very rare disease with an incidence of <0.2% in India. Affecting children are around 1 year of age and characterized by developmental delay, skin pigmentation, and coarse tremors. Studies since 1990 conclude that ITS is caused by nutritional deficiencies, most prominently of Vitamin B12. Since lactating mothers from a poor socioeconomic background in regions where vegetarianism is prevalent because of cultural reasons are most likely to be deficient in Vitamin B12, the syndrome is most likely to affect this segment. The case described herein is unique because it is from Mangalore in India which is a coastal town with very low levels of vegetarianism. A 14-month-old girl presented with fever, vomiting, and loose stools coupled with abnormal movements of eyes, tongue, and hands which were coarse, rhythmic, continuous of low amplitude, present throughout the day, and absent during sleep. Although initial suspicions were of seizures and the patient was administered anti-epileptics, there was no improvement in the condition of the patient. On suspicions of symptoms being of ITS, an MRI-brain was done which showed diffuse mild loss of white matter. Consequently, blood investigations showed macro-to-microcytic hypochromic anemia. Thereafter, the child was started on injectable B12 supplementation and propanolol at 0.5 mg/kg/day for tremors. The child responded well clinically.

EVALUATION OF PANCYTOPENIA WITH BONE MARROW INTERPRETATION

Background: Pancytopenia is one of the most common clinico-haematological entity observed in our day to day clinical practice. It is a disorder in which all the three major elements of blood (i.e. red blood cells, white blood cells and platelets) are decreased in number. The causes of pancytopenia may be due to decrease in hematopoietic cell production in the marrow resulting from infections, toxins, malignant cell in?ltration, post- chemotherapy or post-radiation. Aims and Objectives: 1) To study the etiology and clinical presentation of pancytopenia in all age groups. 2) To correlate with bone marrow interpretation Materials & Methods: This is a prospective study which was conducted among 50 patients of pancytopenia in the Clinical Pathology, Government General Hospital,Kurnool from January 2021 to October 2022 Bone marrow aspiration was done by using Salah's bone marrow puncture needle. Smears were made from bone marrow aspirate (BMA) and stained by Leishman stain and special stains like Perl`s wherever necessary. The smears were assessed for cellularity, differentiation and maturation of erythroid, myeloid and megakaryocytic lineage, M:E ratio, Plasma cells, Lymphocytes and parasites/ abnormal cells. In the present study the commonest cause of Pancytopenia was Megaloblastic anemia (70%) followed by Results: Dimorphic anemia (20%). The less common conditions were Multiple Myeloma (6%),Chronic Myeloid Leukemia(2%),Acute Leukemia(2%). The present study concludes that complete primary hematological Interpretation and Conclusion: investigations along with bone marrow aspiration in pancytopenic patients are helpful for understanding disease process and to diagnose or to the rule out causes of pancytopenia. These are also helpful in planning for further investigations and management

Molecular Cytogenetic Characterization of a Patient Diagnosed with Dimorphic Anemia Carrying De Novo Rare Ring Chromosome 7 along with T(7;9).

A case of a derivative chromosome 7 formed by a ring chromosome 7 and t(7;9) was found who presented with dimorphic anaemia with no other anomaly. Ring chromosome 7 was characterized by conventional and molecular cytogenetic techniques.