1.
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Cho, JS, Kim, SH, Kim, HY, Chung, T, Kim, D, Jang, S, Lee, SB, Yoo, SK, Shin, J, Kim, JI, et al
Epilepsy research. 2017;:118-124
Abstract
Early-onset epileptic encephalopathy (EOEE) consists of a heterogeneous group of epilepsy phenotypes. Recent technological advances in molecular biology have also rapidly expanded the genotype of EOEE. Genes involved in diverse molecular pathways, including ion channels, synaptic structure, transcription regulation, and cellular growth, have been implicated in EOEE. Mitochondrial aminoacyl tRNA synthetase, which plays a key role in mitochondrial protein synthesis by attaching 20 different amino acids to the tRNA tail, has been recently linked with the epilepsy phenotype. Here, we report a novel homozygous c.925G>A (G309S) missense mutation in the gene that encodes the human mitochondrial phenylalanyl-tRNA synthetase (FARS2) in four patients from two nonconsanguineous Korean families. All four patients suffered from intractable seizures that started at the age of 3 and 4 months. Seizure types were variable, including infantile spasms and myoclonic seizures, and often prolonged. Although their initial development seemed to be normal, relentless regression after seizure onset occurred in all patients. An etiologic investigation, including brain imaging and metabolic studies, did not reveal a specific etiology. We reviewed the epilepsy phenotypes of six additional FARS2 mutation-positive patients and suggest that FARS2 can be considered one of the genetic causes of EOEE.
2.
Intussusception in an adult patient with severe hyperglycaemia--a case report.
McFarlane, SI, Byrne, K, Shin, J, Williams, R
Diabetic medicine : a journal of the British Diabetic Association. 2002;(7):611-4
Abstract
AIMS: To report a case of adult intussusception associated with and possibly induced by acute hyperglycaemia. METHODS We present the first case report of adult intussusception with severe hyperglycaemia. Clinical and laboratory data together with radiological findings are presented with a brief review of the literature. RESULTS A 20-year-old man with no past medical history presented with abdominal pain for 2 days. The patient was severely hyperglycaemic with blood glucose of 72.7 mmol/l (normal 3.3-6.1 mmol/l), a pH of 7.2 and serum potassium of 6.5 mmol/l (normal 3.5-5.0 mmol/l). He had a computed tomography (CT) scan of the abdomen that revealed small bowel intussusception. Upon treatment of his hyperglycaemia, the patient's abdominal pain completely resolved. Follow up abdominal CT revealed complete resolution of the previously detected intussusception. CONCLUSION Clinicians should be aware of the potential for the occurrence of intussusception in severely hyperglycaemic patients. Correction of hyperglycaemia could lead to resolution of the intussusception without surgical intervention. Possible effects of hyperkalaemia and/or acidosis on gastrointestinal motility should also be considered.