1.A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate.
Sadik YURTTUTAN ; Mehmet Yekta ONCEL ; Nursel YURTTUTAN ; Halil DEGIRMENCIOGLU ; Nurdan URAS ; Ugur DILMEN
Korean Journal of Pediatrics 2015;58(6):230-233
Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a rare condition with various clinical presentations such as seizures, cerebral edema, lethargy, and encephalopathy. Here, we report the case of a newborn infant who presented with progressive lethargy. An initial diagnosis of cerebral venous sinus thrombosis was followed by confirmation of the presence of nonketotic hyperglycinemia.
Apnea
;
Brain Edema
;
Central Nervous System
;
Diagnosis
;
Diagnosis, Differential
;
Glycine
;
Hiccup
;
Humans
;
Hyperglycinemia, Nonketotic*
;
Infant, Newborn*
;
Lethargy
;
Metabolic Diseases
;
Metabolism
;
Muscle Hypotonia
;
Myoclonus
;
Seizures
;
Sinus Thrombosis, Intracranial
;
Thrombosis*
2.A giant choledochal cyst in infancy: a case report.
Nursel YURTTUTAN ; Suleyman Cuneyt KARAKUS ; Naim KOKU ; Mustafa DEMIRCI ; Ramazan UCAK
Korean Journal of Pediatrics 2016;59(5):239-241
Choledochal cyst is a dilation that encloses the intrahepatic or both extra- and intrahepatic portions of the biliary ducts. Postnatally, ultrasonography is the initial diagnostic modality of choice, allowing for precise measurements of intra- or extrahepatic duct dilatation and identification of stones and sludge. Symptoms depend on the age at presentation. Common bile duct malformations should be considered as a differential diagnosis of a cystic mass regardless of the cyst's size or patient's age, especially in children presenting with abdominal pain, jaundice, and palpable mass. To the best of our knowledge, we report the largest choledochal cyst in infancy.
Abdominal Pain
;
Child
;
Choledochal Cyst*
;
Common Bile Duct
;
Diagnosis, Differential
;
Dilatation
;
Humans
;
Infant
;
Jaundice
;
Sewage
;
Ultrasonography