WBR1092

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Author PageAuthor::Chetan Lokhande
Exam Type ExamType::USMLE Step 2 CK
Main Category MainCategory::Pharmacology, MainCategory::Pediatrics
Sub Category SubCategory::Pulmonology, SubCategory::Pediatrics, SubCategory::Poisoning, SubCategory::Preventive Medicine
Prompt [[Prompt::A 12-month old female child is brought to the office for a routine examination. On enquiry the mother states that the baby was born prematurely and her weight was 4.4. Lbs. On examination of the child you notice that the child cannot sit unsupported. On examination of the head a smaller than usual head is noticed. Examination of the face reveals a smooth philtrum, thin vermillion and small palpebral fissures. What could be the most likely cause of these facial features?]]
Answer A AnswerA::Valproic acid
Answer A Explanation [[AnswerAExp::Valproate causes birth defects; exposure during pregnancy is associated with about three times as many major anomalies as usual, mainly spina bifida and, more rarely, with several other defects, possibly including a "valproate syndrome".Characteristics of this valproate syndrome include facial features that tend to evolve with age, including trigonocephaly, tall forehead with bifrontal narrowing, epicanthic folds, medial deficiency of eyebrows, flat nasal bridge, broad nasal root, anteverted nares, shallow philtrum, long upper lip and thin vermillion borders, thick lower lip and small downturned mouth. Valproate can cause neural tube defects]]
Answer B AnswerB::Alcohol
Answer B Explanation [[AnswerBExp::Alcohol abuse during pregnancy by the mother causes Fetal alcohol syndrome. The three FAS facial features are:

1.A smooth philtrum — The divot or groove between the nose and upper lip flattens with increased prenatal alcohol exposure. 2.Thin vermilion — The upper lip thins with increased prenatal alcohol exposure. 3.Small palpebral fissures — Eye width decreases with increased prenatal alcohol exposure.]]

Answer C AnswerC::LSD
Answer C Explanation [[AnswerCExp::Using Lysergic acid diethylamide during pregnancy has no teratogenic effects on the baby.]]
Answer D AnswerD::Marijuana
Answer D Explanation AnswerDExp::Cannabis consumption in pregnancy is associated with restrictions in growth of the fetus, miscarriage, and cognitive deficits in offspring
Answer E AnswerE::Aspirin
Answer E Explanation [[AnswerEExp::Aspirin (NSAIDs) are not recommended during pregnancy, particularly during the third trimester. While NSAIDs as a class are not direct teratogens, they may cause premature closure of the fetal ductus arteriosus and renal ADRs in the fetus. Additionally, they are linked with premature birth and miscarriage.]]
Right Answer RightAnswer::B
Explanation [[Explanation::This child presents with classical facial features of fetal alcohol syndrome(FAS). Craniofacial abnormalities are often visible in individuals with FAS.The three FAS facial features are:

1.A smooth philtrum — The divot or groove between the nose and upper lip flattens with increased prenatal alcohol exposure. 2.Thin vermilion — The upper lip thins with increased prenatal alcohol exposure. 3.Small palpebral fissures — Eye width decreases with increased prenatal alcohol exposure.

Structural abnormalities of the brain are observable, physical damage to the brain or brain structures caused by prenatal alcohol exposure. Structural impairments may include microcephaly (small head size) of two or more standard deviations below the average, or other abnormalities in brain structure (e.g., agenesis of the corpus callosum, cerebellar hypoplasia).

Microcephaly is determined by comparing head circumference (often called occipitofrontal circumference, or OFC) to appropriate OFC growth charts. Other structural impairments must be observed through medical imaging techniques by a trained physician. Because imaging procedures are expensive and relatively inaccessible to most patients, diagnosis of FAS is not frequently made via structural impairments, except for microcephaly.

Evidence of a CNS structural impairment due to prenatal alcohol exposure will result in a diagnosis of FAS, and neurological and functional impairments are highly likely.

During the first trimester of pregnancy, alcohol interferes with the migration and organization of brain cells, which can create structural deformities or deficits within the brain. During the third trimester, damage can be caused to the hippocampus, which plays a role in memory, learning, emotion, and encoding visual and auditory information, all of which can create neurological and functional CNS impairments as well.

As of 2002, there were 25 reports of autopsies on infants known to have FAS. The first was in 1973, on an infant who died shortly after birth. The examination revealed extensive brain damage, including microcephaly, migration anomalies, callosal dysgenesis, and a massive neuroglial, leptomeningeal heterotopia covering the left hemisphere.

In 1977, Dr. Clarren described a second infant whose mother was a binge drinker. The infant died ten days after birth. The autopsy showed severe hydrocephalus, abnormal neuronal migration, and a small corpus callosum (which connects the two brain hemispheres) and cerebellum. FAS has also been linked to brainstem and cerebellar changes, agenesis of the corpus callosum and anterior commissure, neuronal migration errors, absent olfactory bulbs, meningomyelocele, and porencephaly.
Educational Objective: Alcohol abuse during pregnancy by the mother causes Fetal alcohol syndrome. The three FAS facial features are: 1.A smooth philtrum — The divot or groove between the nose and upper lip flattens with increased prenatal alcohol exposure. 2.Thin vermilion — The upper lip thins with increased prenatal alcohol exposure. 3.Small palpebral fissures — Eye width decreases with increased prenatal alcohol exposure.
References: ]]

Approved Approved::Yes
Keyword WBRKeyword::Fetal alcohol syndrome, WBRKeyword::Alcohol abuse, WBRKeyword::Teratogens
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