Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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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.
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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
Laparoscopic Resection of Desmoid Type Fibromatosis of the Splenic Hilum Mimicking a Greater Curvature Gastric GIST.
Desmoid tumor, recently renamed as desmoid type fibromatosis, is an uncommon neoplasm. The mesentery is the usual origin of intra-abdominal desmoid-type fibromatosis and despite the fact there is no metastatic potential, it can infiltrate adjacent organs. There etiology remains unknown, preoperative diagnosis is difficult and differential diagnosis includes among other gastrointestinal stromal tumor (GIST). ⋯ We present a case of a 51-year lady who presented with a 6.2 x 4.5 x 3.3 cm neoplasm in the anatomic area of the greater gastric curvature, the splenic hilum and the tail of the pancreas that was diagnosed as GIST on the CT scan. The patient was submitted to laparoscopic excision of the tumor and histopathological examination revealed desmoid type fibromatosis of the splenic hilum infiltrating the spleen, pancreatic tale and greater gastric curvature. According to the authors' knowledge, this is the first reported case of a sporadic splenic desmoid tumor, which has been treated successfully by laparoscopic en block resection.