ABSTRACT
Antiepileptic drug hypersensitivity syndrome (AHS), a delayed immunological reaction, is a relatively rare side effect of antiepileptic drugs and is usually overlooked. An array of symptoms can occur one to eight weeks after treatment with an antiepileptic drug. Symptoms may be as simple as a fever, skin rash, or lymphadenopathy, but may eventually involve internal organs and cause fatal outcomes. Additionally, because the symptoms resemble the features of various arrays of diseases and the reported mortality rate is approximately 10%, the importance of early diagnosis and ability to differentiate AHS from other diseases cannot be overemphasized. We report a case of a 14-year-old girl with AHS caused by lamotrigine, which mimicked atypical Kawasaki disease and infectious mononucleosis.
Subject(s)
Adolescent , Humans , Anticonvulsants , Drug Hypersensitivity , Early Diagnosis , Exanthema , Fatal Outcome , Fever , Infectious Mononucleosis , Lymphatic Diseases , Mucocutaneous Lymph Node Syndrome , TriazinesABSTRACT
PURPOSE: Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. METHODS: DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). RESULTS: We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of BH4 responsive patients were analyzed and were divided into two groups: BH4 medication-only group and BH4 medication with diet therapy group. In the BH4 medication-only group and BH4 medication with diet therapy group, R241C was the most common mutation. CONCLUSION: Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.
Subject(s)
Humans , Asian People , Base Sequence , DNA , Genetic Counseling , Genotype , Leukocytes , Phenylalanine , Phenylalanine Hydroxylase , PhenylketonuriasABSTRACT
No abstract available.
Subject(s)
Female , Pregnancy , Embryonic Structures , Fertilization in Vitro , Pregnancy, TubalABSTRACT
The estimated incidence of twin pregnancy consisting of hydatidiform mole and co-existing fetus is one per 22,000-100,000 pregnancies. Most patients with hydatidiform mole and co-existing normal fetus must be cautioned about the potential for risks of malignant change and severe medical complications, such as preeclampsia, hyperthyroidism and antepartum hemorrhage, that may necessitate prompt pregnancy termination. We experienced a case of twin pregnancy with a hydatidiform mole and co-existing fetus in hypogonadotropic hypogonadismal woman who had been treated with gonadotropin for ovulation induction. A brief reviews of related literatures was done.