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Case Report

Two Cases of Citrullinemia Presented with Strokes

Hyun-Mi Kim, Jae-Bok Kim, Jung-Ho Kim, Sang-Jin Ba, Chong-Hyun Yoon, Han-Wook Yoo

Clin Exp Pediatr. 1999;42(3):437-441. Published online March 15, 1999

Urea cycle disorders are characterized by encephalopathy, respiratory alkalosis, and hyperammonemia. A urea cycle disorder should be considered a diagnostic possibility in any patient regardless of age with occult encephalopathy. The most common central nervous system pathology of urea cycle disorder is cerebral edema. The cerebral edema is caused by astrocyte swelling secondary to hyperammonemia and intracellular glutamine accumulation. Strokes...

A Case of Type 1 Gaucher Disease Treated with Enzyme Replacement

Jae-Bok Kim, Han-Wook Yoo

Clin Exp Pediatr. 1998;41(11):1590-1595. Published online November 15, 1998

Type 1 Gaucher disease is one of the most common genetic lysosomal storage disease caused by the deficiency of glucocerobrosidase. Deficiency of this enzyme results in accumulation of glucoceramide in the macrophage and leads to hepatosplenomegaly, pancytopenia, bone damage and sometimes can be fatal. Recently, enzyme replacement has been considered as a major therapeutic strategy and about 2,000 patients have...

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Aplasia cutis congenita with unique vascular malformation and cranial hypoplasia: a case in a preterm infant

Impact of hematopoietic stem cell transplantation on growth outcomes in mucopolysaccharidosis: a systematic review

Protocolized sedation may reduce ventilation and sedation requirements in the pediatric intensive care unit: a systematic review and meta-analysis

EosinoEosinophil-derived neurotoxin levels can predict allergic disease development and atopic march in children

COVID-19 vaccine hesitancy among parents of children with systemic lupus erythematosus

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