Fetal alcohol syndrome can be suspected in infants born to mothers with a prenatal history of alcohol abuse if the child exhibits characteristic facial features, together with intrauterine growth retardation, multiple neurological abnormalities, and multiorgan defects. If only a few of the above criteria are satisfied, the term fetal alcohol effects is used. We experienced a neonate who presented with hydrocephalus, low birth weight, seizure, right renal agenesis, characteristic facial features and a maternal history of alcohol abuse, and diagnosed him as fetal alcohol syndrome(FAS), with accompanying meconium aspiration syndrome, and persistent pulmonary hypertension of the newborn. There is no definite cure for FAS, but it can be prevented by maternal abstinence from drinking; thus maternal education, understanding and early diagnosis of those affected are of importance.
Alcoholism ; Child ; Drinking ; Early Diagnosis ; Education ; Fetal Alcohol Spectrum Disorders* ; Fetal Growth Retardation ; Humans ; Hydrocephalus ; Hypertension, Pulmonary* ; Infant ; Infant, Low Birth Weight ; Infant, Newborn* ; Meconium Aspiration Syndrome ; Mothers ; Seizures

No abstract available.
Fetal Alcohol Spectrum Disorders*

OBJECTIVE: The number of Korean women of childbearing age who drink alcohol and binge drink has increased remarkably in recent years. In the present study, we examined self-reported rates of alcohol use before and during pregnancy and identified maternal characteristics associated with drinking in pregnancy. METHODS: One thousand pregnant Korean women who visited the Department of Obstetrics and Gynecology (OB/GYN) completed a self-administered questionnaire that sought information on their demographic characteristics and incorporated features of the Alcohol Use Disorder Identification Test (AUDIT)-C to investigate their use of alcohol, including binge drinking, during three time periods ("in the year before this pregnancy," "during this pregnancy," and "in the previous 30 days"). RESULTS: Of these participants, 16.4% reported using alcohol during their pregnancy, 12.2% had used alcohol in the previous 30 days, and 1.7% reported binge drinking during their pregnancy. In the year before pregnancy, 77.1% had used alcohol, and 22.3% had binge drunk. The group using any amount of any alcohol during pregnancy showed a lower educational level, a lower rate of planned pregnancy, a lower level of knowledge relating to the risks of drinking alcohol during pregnancy, and a higher frequency of alcohol drinking in the year before pregnancy when compared with the abstinent group. Low educational level and unplanned pregnancy were revealed to be significant risk factors for alcohol consumption in pregnant women. CONCLUSION: This is the first study to examine any alcohol and binge alcohol drinking during pregnancy in Korea. Clinical attention and monitoring system on alcohol use during pregnancy are necessary in Korea.
Alcohol Drinking ; Binge Drinking ; Drinking ; Family Planning Services ; Female ; Fetal Alcohol Syndrome ; Gynecology ; Humans ; Korea ; Obstetrics ; Pregnancy ; Pregnancy, Unplanned ; Pregnant Women ; Surveys and Questionnaires ; Risk Factors

The teratogenic effects of alcohol have been recognized in fetal alcohol syndrome (FAS). FAS is a collection of signs and symptoms seen in some children exposed to alcohol in the prenatal period. An 8 month-old-male with an alcoholic mother was diagnosed as a case of FAS according to the following : 1) early-onset intrauterine growth retardation and persistent postnatal growth failure 2) psychomotor retardation 3) craniofacial dysmorphism. Early diagnosis and continued education are advantageous at all levels, benefiting both the individual and all of society. We present this case with a brief review of related literatures.
Alcoholics ; Child ; Early Diagnosis ; Education ; Fetal Alcohol Spectrum Disorders* ; Fetal Growth Retardation ; Humans ; Mothers

Cri du Chat syndrome (CdCS) is a chromosomal disease resulting from a deletion on the short arm of chromosome 5. Characteristic features include high pitched cat-like cry, distinguishing facial features, and mental retardation. Some cases have been reported in the Korean literature, but no case reports about the concrete aspects of developmental delay in CdCS patients have been published. Therefore, we report a CdCS patient with developmental delay who was misdiagnosed as fetal alcohol syndrome. The result of the Korean-Child Development Review and Sequenced Language Scale for Infants showed severe developmental retardation, especially in expressive language.
Arm ; Centers for Disease Control and Prevention (U.S.) ; Chenodeoxycholic Acid ; Chromosomes, Human, Pair 5 ; Cri-du-Chat Syndrome ; Fetal Alcohol Syndrome ; Humans ; Infant ; Intellectual Disability

Fetal alcohol syndrome is characterized by distinctive facial appearance, prenatal onset growth deficiency, an increased frequency of development and mental retardation, cardiac anomaly and genitourinary anomaly. Complete abstinence during pregnancy is recommended, since alcohol consumption in each trimester has been associated with abnormalities. We experienced a case of fetal alcohol syndrome in a 11-month-old female infant. Her mother had drunk as much as 500cc of alcohol every day from 1st trimester to 3rd trimester of pregnancy. The child was small for gestational age, other distinctive features were microcephaly, thin upper lip, short palpebral fissure, hypertelorism, low nasal bridge, hypoplasia of philtrum, dysplastic ear, developmental and mental retardation, mild pulmonary stenosis and ovarian cysts. On the basis of maternal history and clinical features mentioned above, we diagnosed the case as fetal alcohol syndrome.
Alcohol Drinking ; Child ; Ear ; Female ; Fetal Alcohol Spectrum Disorders* ; Gestational Age ; Humans ; Hypertelorism ; Infant ; Intellectual Disability ; Lip ; Microcephaly ; Mothers ; Ovarian Cysts ; Pregnancy ; Pulmonary Valve Stenosis

Fetal alcohol syndrome is characterized by distinctive facial appearance, prenatal onset growth deficiency, an increased frequency of development and mental retardation, cardiac anomaly and genitourinary anomaly. Complete abstinence during pregnancy is recommended, since alcohol consumption in each trimester has been associated with abnormalities. We experienced a case of fetal alcohol syndrome in a 11-month-old female infant. Her mother had drunk as much as 500cc of alcohol every day from 1st trimester to 3rd trimester of pregnancy. The child was small for gestational age, other distinctive features were microcephaly, thin upper lip, short palpebral fissure, hypertelorism, low nasal bridge, hypoplasia of philtrum, dysplastic ear, developmental and mental retardation, mild pulmonary stenosis and ovarian cysts. On the basis of maternal history and clinical features mentioned above, we diagnosed the case as fetal alcohol syndrome.
Alcohol Drinking ; Child ; Ear ; Female ; Fetal Alcohol Spectrum Disorders* ; Gestational Age ; Humans ; Hypertelorism ; Infant ; Intellectual Disability ; Lip ; Microcephaly ; Mothers ; Ovarian Cysts ; Pregnancy ; Pulmonary Valve Stenosis

Alcohol ingestion during pregnancy can be damaging to embryonic and fetal development. A specific pattern of malformation, identified as Fetal alcohol syndrome, has been documented in 1~2 of every 1,000 live infant births Fetal alcohol syndrome is characterized by growth deficiency, facial abnormalities, cardiac defects, minor joint and limb abnormalities, as well as central nervous system dysfunction, including microcephaly, mental retardation and abnormal neurobehavioral development. However, there are few reports of fetal alcohol syndrome associated with hormonal abnormality or amenorrhea. Recently, a case of secondary amenorrhea, which developed in a 19-year-old woman with fetal alcohol syndrome, was experienced at our institute, but the exact cause of the amenorrhea was difficulty to find. Herein, this case is reported, with a review of the literature.
Amenorrhea* ; Central Nervous System ; Eating ; Embryonic and Fetal Development ; Extremities ; Female ; Fetal Alcohol Spectrum Disorders* ; Humans ; Infant ; Intellectual Disability ; Joints ; Microcephaly ; Parturition ; Pregnancy ; Young Adult

Fetal alcohol syndrome (FAS) is a developmental neuropathology resulting from in utero exposure to ethanol; many of ethanol's effects are likely to be mediated by the neurotransmitter gamma-aminobutyric acid (GABA). We studied modulation of the neurotransmitter receptor GABABR and its capacity for intracellular signal transduction under conditions of ethanol treatment (ET) and RNA interference to investigate a potential role for GABA signaling in FAS. ET increased GABAB1R protein levels, but decreased protein kinase A-alpha (PKA-alpha), calcium/calmodulin-dependent protein kinase II (CaMKII) and phosphorylation of cAMP-response element binding protein (p-CREB), in cultured hippocampal neurons harvested at gestation day 17.5. To elucidate GABAB1R response to ethanol, we observed the effects of a GABABR agonist and antagonist in pharmacotherapy for ethanol abuse. Baclofen increased GABABR, CaMKII and p-CREB levels, whereas phaclofen decreased GABABR, CaMKII and p-CREB levels except PKA-alpha. Furthermore, when GABAB1R was knocked down by siRNA treatment, CaMKII and p-CREB levels were reduced upon ET. We speculate that stimulation of GABAB1R activity by ET can modulate CaMKII and p-CREB signaling to detrimental effect on fetal brain development.
Animals ; Baclofen ; Brain ; Calcium-Calmodulin-Dependent Protein Kinase Type 2 ; Carrier Proteins ; Ethanol ; Fetal Alcohol Syndrome ; gamma-Aminobutyric Acid ; Hippocampus ; Neurons ; Neurotransmitter Agents ; Phosphorylation ; Pregnancy ; Protein Kinases ; Rats ; Receptors, Neurotransmitter ; RNA Interference ; RNA, Small Interfering ; Signal Transduction

Alcohol is a well-known cytotoxic agent which causes various kinds of neuronal damage. In spite of thousands of published studies, the true mechanism of alcohol-induced neuronal damage remains unclear. Neurogenesis is the generation of neurons from neural stem cells (NSCs) and occurs in predominantly two regions of the brain, the subventricular zone and the dentate gyrus of the hippocampus. NSCs are the self-renewing, multipotent precursor cells of neurons, astrocytes, and oligodendrocytes in the central nervous system. Recent studies have begun to illuminate the role of neurogenesis in the biological and cellular basis of psychiatric disorders and several clinical symptoms seen in alcoholism such as depression, cognitive impairment, underlying stress and brain atrophy have been linked to impaired neurogenesis. Heavy alcohol consumption decreases neurogenesis in animals, while in vitro studies have shown decreased generation of new neurons after alcohol exposure. These findings suggest that decreased neurogenesis is important in the pathophysiology of alcoholism. Neurogenesis can be divided into four stages; proliferation, migration, differentiation and survival. Our in vitro studies on NSCs showed that alcohol decreased neuronal differentiation at doses lower than those that affected cell survival and suggested that neuron-restrictive silencer factor, or repressor element-1 silencing transcription factor (NRSF/REST) could be involved in alcohol-induced inhibition of neuronal differentiation. In an animal model of fetal alcohol effects behavioral symptoms improved after NSC transplantation. Neurogenesis could be the target for new strategies to treat alcohol related disorders.
Alcohol Drinking ; Alcohol-Related Disorders ; Alcoholism ; Animals ; Astrocytes ; Atrophy ; Behavioral Symptoms ; Brain ; Cell Survival ; Central Nervous System ; Dentate Gyrus ; Depression ; Fetal Alcohol Spectrum Disorders ; Hippocampus ; Models, Animal ; Neural Stem Cells ; Neurogenesis ; Neurons* ; Oligodendroglia ; Transcription Factors