Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Sep 2018
Case ReportsThiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an autosomal recessive inherited disorder characterised by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report a case of 2-year-old girl whose anemia improved following administration of thiamine. She came with the history of persistent anaemia for the last one year. ⋯ She responded very well to thiamine. Her haemoglobin improved and blood sugar fasting came down in normal range. This case report sensitises the early diagnosis, and treatment with thiamine in children presenting with anemia, diabetes and deafness.
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J Coll Physicians Surg Pak · Sep 2018
Case ReportsAcrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism).
Pseudohypoparathyroidism (PHP) is an extremely rare group of disorders. It is a spectrum of disorders caused by end organ resistance to parathyroid hormone (PTH) and is represented by impaired signalling that activates cAMP dependent pathways via alpha subunit of G-protein (GS). ⋯ We describe a case of 10-year girl who presented with fear of falling down from heights. Her laboratory evaluation and skeletal survey showed evidence of PHP along with features of Albright's hereditary osteodystrophy (AHO) pointing towards the diagnosis of PHP type 1a.