ABSTRACT
We report a case of a rare disorder of renal amyloidosis occurring as a complication of juvenile rheumatoid arthritis in a 16-year-old adolescent male. He presented with generalized edema and hypertension. The laboratory work-up showed nephrotic-range proteinuria and hypoalbuminemia and normal renal function despite bilateral shrunken kidneys revealed by the abdominal ultrasound. His renal biopsy showed deposition of amyloid fibrils in the form of homogenous eosinophilic material within the glomeruli demonstrating the pathognomonic apple-green birefringence by polarized light microscopy
Subject(s)
Humans , Male , Amyloidosis/diagnosis , Kidney/pathology , Arthritis, Juvenile/complications , Edema , Hypertension , Proteinuria , Hypoalbuminemia , Kidney Function Tests , UltrasonographyABSTRACT
Gitelman's syndrome is a hereditary disorder occurring due to loss of functional mutations of the gene encoding the distal convoluted tubule sodium chloride cotransporter [NCCT] and is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. This case reports an adolescent girl presenting with episodes of carpopedal spasms and difficulty in walking with laboratory tests suggestive of Gitelman's syndrome along with hypophosphatemia
Subject(s)
Humans , Female , Hypophosphatemia , Gitelman Syndrome/genetics , Hypokalemia , Alkalosis , Magnesium/blood , Calcium/urine , Gitelman Syndrome/therapyABSTRACT
To determine the validity of Siriraj Stroke Score in differentiation between intracerebral and cerebral infarction. Hundred patients of stroke admitted in Medical Unit-Il Sheikh Zayed Hospital, Rahim Yar Khan were selected. CT scan brain was done in all patients with clinical application of siriraj score and results were compared. Duration was one year from January 2008 to December 2008. The brain CT scans of 100 patients referred with clinical diagnosis of stroke were reviewed. Of the 100 patients with stroke and complete clinical records, 67 were males and 33 were females. The age of the patients ranged from 21 to .9 years with a mean of 60 +/- 4.3 years. Twenty six [26%] patients were comatose, on presentation and history from the relations was relied upon. Fifty-six [56%] patients had CT scan features of cerebral infarction, whilst 44 [44%] patients had features consistent with the diagnosis of intracerebral hemorrhage. Using the Siriraj stroke score, 92 [92%] patients were classified, 52 [52%] as cerebral infarction and 40 [40%] as intracerebral hemorrhage. Eight [8%] patients had indeterminate scores. It is unlikely that any score will replace brain imaging. So, until unless result of such a study is available, we contend that computed tomography scan should remain the only reliable investigation for distinguishing between intracerebral hemorrhage and cerebral infarction among Pakistanis and it should be made available and affordable
Subject(s)
Humans , Male , Female , Cerebral Hemorrhage , Cerebral InfarctionABSTRACT
Galloway-Mowat syndrome is a rare multisystem genetic disorder with constellation of neurological, skeletal, growth, facial, gastrointestinal and renal abnormalities. This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephritic syndrome became apparent at 5 years of age
Subject(s)
Humans , Male , Female , Seizures , Nephrotic Syndrome , Hernia, Hiatal , Genetic Diseases, Inborn , Microcephaly/pathology , Fetal Growth Retardation/genetics , Fetal Growth Retardation/pathology , Abnormalities, Multiple/geneticsABSTRACT
We report a case of a rare inherited tubular disorder of linked transport of magnesium and calcium at the level of ascending limb of loop of Henle, characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis, known as "Manz syndrome" who presented with polyuria, nystagmus and recurrent episodes of tetany with radiological evidence of rickets and nephrocalcinosis