Results 21 to 30 of about 1,071 (127)
Congenital Bladder Diverticulum in Adults: A Case Report and Review of the Literature
Case Reports in Urology, Volume 2018, Issue 1, 2018., 2018 A 37‐year‐old male patient presented to the emergency department with fever, gross hematuria, and irritative lower urinary tract symptoms. Investigations revealed the presence of a large left bladder diverticulum superior and lateral to the left ureteral orifice without bladder outlet obstruction.
Rawad Abou Zahr +4 more
wiley +1 more source
Menkes Disease Presenting with Epilepsia Partialis Continua
Case Reports in Neurological Medicine, Volume 2014, Issue 1, 2014., 2014 Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen‐months‐old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis continua. Discussion.
Tamer Rizk +4 more
wiley +1 more source
Inborn errors of metabolism causing epilepsy
Developmental Medicine &Child Neurology, Volume 55, Issue 1, Page 23-36, January 2013., 2013 Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine‐dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive ...
SHAMIMA RAHMAN +3 more
wiley +1 more source
Congenital and Acquired Abnormalities of the Corpus Callosum: A Pictorial Essay
BioMed Research International, Volume 2013, Issue 1, 2013., 2013 The purpose of this review is to illustrate the wide spectrum of lesions in the corpus callosum, both congenital and acquired: developmental abnormalities, phakomatoses, neurometabolic disorders, demyelinating diseases, infection and inflammation, vascular lesions, neoplasms, traumatic and iatrogenic injury, and others. Cases include fetuses, children,
Katarzyna Krupa +2 more
wiley +1 more source
Hepatic Copper Metabolism in a Mouse Model for Menkes' Kinky Hair Syndrome [PDF]
Pediatric Research, 1990 Menkes' kinky hair syndrome (KHS) is a lethal x-linked neurodegenerative disorder of copper metabolism, with low serum copper concentrations, tissue-specific copper sequestration, and decreased activities of cuproenzymes in a number of cell types. Although liver copper accumulation is abnormal in KHS, the actual defect in hepatic copper metabolism has ...
R O, Castillo +3 more
openaire +2 more sources
The West Indian medical journal, 1992 We herein describe a case of Menkes' Syndrome in a Jamaican infant. The diagnosis was confirmed by low serum copper and ceruloplasmin levels.
R, Singh, J, Tapper
openaire +1 more source
Menke's Kinky Hair Syndrome - A Spectrum of Clinico-Radiological Findings
Apollo Medicine, 2013 Alka Agrawal +3 more
doaj +1 more source
Menke's kinky hair syndrome--a rare medical condition.
JPMA. The Journal of the Pakistan Medical Association, 2005 The case of a 16-month-old boy is described who had typical clinical and radiological features and was proven biochemically to be a case of Menke's disease. Clinical manifestations began in the first few months with hypothermia, hypotonia, seizures and death occurring at the age of 18 months.
Yaseer, Al-Bitar +2 more
openaire +1 more source
Prolonged survival in Menkes disease with a novel <i>ATP7A</i> variant: A case report. [PDF]
World J Clin PediatrHadi Y +4 more
europepmc +1 more source