The Indian Practitioner

Ankur Handa ¹, Jaswir Singh ¹, Maninder Kaur ², Parminder Kaur ¹

Affiliations
1 Department of Pediatrics, Govt. Medical College Patiala, IN
2 Department Of Biochemistry, Govt. Medical College Patiala, IN

Abstract

The present study is a type of case control study. The objective of the study is to determine liver function (LFTs), S.Iron and TIBC in 100 blood transfused, Beta Thalassemic children attending thalassemia unit, Rajindra Hospital, Patiala. Iron overload as suggested by increase in S. Iron and decreased TIBC levels leads to liver dysfunction manifested by deranged liver function tests in thalassemia major children.

Keywords

Thalassemia, Hemoglobinopathies, TIBC.

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Parminder Kaur ¹, Vishal Guglani ¹, Simranjit Kaur ², Sumiti Banga ¹

Affiliations
1 Dept. of Paediatrics, GMCH 32, Chandigarh, IN
2 Assam Medical College, Dibrugarh, IN

Abstract

Neonatal diabetes mellitus (NDM), defined as persistent hyperglycaemia occurring in the first six months of life, is a rare cause of hyperglycaemia. We report a case of a four-month-old girl child with diabetes presented in Diabetic ketoacidosis (DKA) with severe dehydration, respiratory distress and encephalopathy. The child gradually improved with insulin and fluid therapy. There have been various studies showing the incidence of neonatal diabetes to be around 0.5%. This rare incidence of the disease makes it important to consider neonatal diabetes as an important differential in case of any child presenting with severe dehydration, acidosis and encephalopathy, especially in age group less than 6 months, where the chances of getting it missed are high.

Keywords

Neonatal Diabetes, DKA, Sulfonylureas, Subcutaneous Insulin, ABCC8, KCNJ11 Mutations, Transient Diabetes, Permanent Diabetes.

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Parminder Kaur ¹, Vishal Guglani ¹, Chandrika Azad ¹, Simranjit Kaur ², Tanvi Singh ¹

Affiliations
1 Dept. of Paediatrics, GMCH 32, Chandigarh, IN
2 AMC, Dibrugarh, IN

Abstract

Down’s syndrome (DS) is one of the most common chromosomal disorders (one in 800 births) and the most common cause of mental retardation. It is well known that patients with Down’s syndrome have an increased prevalence of autoimmune disorders, affecting both endocrine and non-endocrine organs. The most common autoimmune disease in Down’s syndrome is related to the thyroid gland. Hyperthyroidism is also found at a higher-than-average rate in patients with DS, although only isolated cases have been reported. We here report a case of a 10-year-old female child showing a rare association between Graves’ and Down’s syndrome. The child had symptoms of anxiety, weight loss and swelling in neck. The symptoms gradually improved with methamizole.

Keywords

Down’s Syndrome, Graves’ Diseases, Thyroid, Autoimmune Disease.

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Parminder Kaur ¹, Suksham Jain ², Deepak Chawla ², Supreet Khurana ¹

Affiliations
1 Government Medical College & Hospital, Chandigarh, IN
2 Dept Of Neonatology, Government Medical College & Hospital, Chandigarh, IN

Abstract

Neonatal hemochromatosis is a rare disease of iron metabolism, characterized by the excess accumulation of iron in the tissues. This occurs in utero and can lead to fetal demise or an infant who presents with advanced liver disease in the neonatal period. We hereby report a case of neonatal hemochromatosis in a 42 week infant who presented at birth with abnormal liver functions with conjugated hyperbilirubenemia, raised ferritin and abnormal imaging studies. The diagnoses of infection and metabolic errors were excluded before the confirmation of neonatal hemochromatosis was made. This diagnosis was confirmed by elevated ferritin levels and extra hepatic siderosis excluding the reticuloendothelial system. Anti-oxidant therapy was initiated with vitamins C and E and intravenous immunoglobulin. The baby demonstrated a positive response and was discharged home with outpatient follow up.

Keywords

Neonatal Hemochromatosis, Acute Liver Failure, Neonate, S.ferritin, IVIG, Udiliv.

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