Browsing by Author "Lamichhane, Anita"
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Publication A Neonate Presenting with Severe Dehydration - A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis(Nepal Medical Association, 2024) Lamichhane, Anita; Phuyel, Rekha; Upreti, Manish; Khadka,RameshAbstract Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ. The most common form, accounting for more than 95% of cases, is caused by 21-hydroxylase deficiency. Delay in the diagnosis and treatment can lead to life-threatening adrenal crisis with hemodynamic collapse. We report a case of a five-day-old male neonate with congenital adrenal hyperplasia and salt-wasting crisis. The diagnosis was made after comprehensive assessment of clinical features and laboratory investigations. He was treated with hydrocortisone and fludrocortisone and was discharged after one week.Publication Occipital Encephalocele with Multiple Birth Defects: A Case Report(Nepal Medical Association, 2021) Pyakhurel, Bikash; Lamichhane, Anita; Bhandari, Bikash; Oli, Navachandra; Lamichhane, SomrajAbstract: A full-term female baby presented at 24 hours of life at the emergency department with occipital encephalocele, bilateral cleft lip, and cleft palate. She was born to a second gravida mother with no consanguinity between the parents. On examination, encephalocele was 10centimeters x 7centimeters in size with bilateral cleft lip and palate. It presents the opportunity for healthcare professionals to learn about a group of congenital neurological disorders in the content of a rare case presentation and highlights the importance of ultrasonography in the antenatal period for the detection of neural tube defects in the early stage for proper counselling and management. A compulsory prenatal diagnosis of the suspected family should be done by the intervention of the public sector of any country so that we can prevent and avoid abnormal birth.