1/34. Multiple temporal bone anomalies in isotretinoin syndrome: a temporal bone histopathologic case report.vitamin a and its derivatives are known teratogens. To our knowledge, this is the second temporal bone histopathologic report on anomalies related to these substances. A white boy (aged 4 years 5 months at death) was born with a complex central nervous system dysgenesis related to his mother's use of isotretinoin (Accutane) early in pregnancy. Histopathologic examination revealed multiple anomalies in the temporal bones: a narrow external auditory canal, protrusion of bone marrow into the middle ear cavity, anomalies of the ossicles, hypoplasia of the facial nerve, absence of the chorda tympani nerve and the stapedius muscle, anomalies of the membranous labyrinth in the vestibule, a hypoplastic lateral semicircular canal, and a large vestibular aqueduct and endolymphatic sac.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/34. blepharoptosis and central nervous system abnormalities in combined valproate and hydantoin embryopathy.PURPOSE: To report a case of intrauterine anticonvulsant exposure with subsequent ocular adnexal manifestations. methods: Case report. RESULTS: An 18-month-old child with known anticonvulsant embryopathy was referred for the management of bilateral congenital blepharoptosis. physical examination confirmed ocular and nonocular external manifestations of valproate and hydantoin embryopathies. Cavum septum pellucidum, mild sulcation defects, and cerebellar atrophy were identified on neuroimaging. CONCLUSIONS: To our knowledge, our patient represents the second reported case of anomalous septum pellucidum after intrauterine valproate exposure. Clinicians evaluating patients with craniofacial features associated with intrauterine valproate exposure should recognize that concomitant anomalies of the central nervous system, including the septum pellucidum, might exist.- - - - - - - - - - ranking = 5keywords = central nervous system, nervous system (Clic here for more details about this article) |
3/34. Accutane-exposed pregnancies--california, 1999.Accutane (Roche laboratories, Nutley, new jersey), known by the generic name "isotretinoin," is a prescription oral medication approved by the food and Drug Administration (FDA) to treat severe, recalcitrant nodular acne. It is also a known human teratogen that can cause multiple major malformations. Embryopathy associated with the mother's exposure to isotretinoin during the first trimester of pregnancy includes craniofacial, cardiac, thymic, and central nervous system malformations . In response to FDA recommendations, the manufacturer began a pregnancy-prevention program (PPP) in 1988 that included educational materials for physicians and patients and offered women reimbursement for contraceptive counseling by a physician. The PPP coordinators asked reproductive-aged women being treated with isotretinoin to enroll voluntarily in the boston University Accutane Survey (BUAS). The total number of reproductive-aged women taking isotretinoin in the united states is unknown; however, 454,273 women enrolled in the BUAS from 1989 to October 1999. BUAS has estimated that 38%-40% of reproductive-aged women taking isotretinoin chose to enroll in the survey (BUAS, unpublished data, 1999). Although isotretinoin is contraindicated in pregnancy and has a package label warning users to avoid pregnancy while taking it, exposed pregnancies occur. Approximately 900 pregnancies occurred among BUAS enrollees during 1989-1998 (BUAS, unpublished data, 1999). Roche laboratories began direct-to-consumer print advertisements in 1996, added television and radio advertisements to selected cities in 1997, and expanded the campaign to the entire united states in 1998.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/34. Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature.The case of a girl with cloverleaf skull (CLS) and multiple congenital anomalies is reported. Both parents have a history of drug use. Maternal cocaine abuse during the first trimester of pregnancy was obvious, and other drugs, such as marihuana and alcohol, were also taken by the mother. Many central nervous system malformations have been reported in association with cocaine abuse, the most severe being midline defects and neural tube defects. To our knowledge this is the first case reported of CLS anomaly associated with drug exposure. We also describe other anomalies not previously reported in association with CLS.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/34. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 2.1052183475347keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
6/34. Pathologic and laboratory correlation in microcephaly associated with prenatal cocaine exposure.The Authors report a case where cocaine abuse during pregnancy assessed by drug analysis at various site was associated with foetal microcephaly. Foetal pathologic findings revealed anomalies in neuronal migration and in the vascular architecture in the brain. Such anomalies might be the result of prolonged exposure to cocaine in utero, aggravated by the high concentration of cocaine metabolites in the amniotic fluid over a prolonged period.- - - - - - - - - - ranking = 0.10521834753467keywords = brain (Clic here for more details about this article) |
7/34. Microlissencephaly with cardiac, spinal and urogenital defects.We describe two children with a brain defect similar to that described as 'microlissencephaly', as defined in Barkovich et aL [(1998) Neuroped 29: 113-119]. Concomitant malformations (cardiac, spinal, urogenital) may represent components of a wider syndrome complex; alternatively, or additionally, there may have been a valproate teratogenic effect. The inheritance is likely to be autosomal recessive, although X-linkage cannot be excluded.- - - - - - - - - - ranking = 0.10521834753467keywords = brain (Clic here for more details about this article) |
8/34. septo-optic dysplasia as a manifestation of valproic acid embryopathy.BACKGROUND: The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation (IUGR), hyperbilirubinemia, hepatotoxicity, transient hyperglycemia, and fetal and neonatal distress. In addition, intrauterine exposure to valproic acid has been associated with an increased risk of central nervous system abnormalities, primarily neural tube defects. optic nerve hypoplasia has been reported in association with other prenatal anticonvulsant exposures, but the occurrence of septo-optic dysplasia as a manifestation of valproic acid embryopathy has not been reported previously. RESULTS: We report on a woman who received Depakote (valproic acid) throughout her pregnancy for the treatment of a seizure disorder. The patient presented with features typical of valproic acid embryopathy, including bitemporal narrowing, hypertelorism, short palpebral fissures, epicanthal folds, microphthalmia, a flat broad nasal bridge, small mouth, hypoplastic nails, mild clinodactyly, and camptodactyly. MRI showed hypoplasia of the optic chiasm and absence of the septum pellucidum. CONCLUSIONS: We report the first case of septo-optic dysplasia associated with maternal exposure to valproic acid throughout pregnancy. This case expands the clinical phenotype of valproate embryopathy.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/34. temporal bone pathology in fetuses exposed to isotretinoin.isotretinoin can be teratogenic, affecting many tissues, including the ear. However, there are only two histopathologic studies of the temporal bone in affected humans, and neither describes the findings in early gestation. We had the opportunity to study both temporal bones in each of two fetuses (22 and 24 weeks) exposed to isotretinoin in early gestation. One of the fetuses had a dilated IVth ventricle and a hypoplastic cerebellar vermis, while no dysmorphic features were seen in the other. In both infants the external ears were not noticeably abnormal. Histologically, anomalies of the middle ear included medial deviation of the malleus, forward displacement of the incus, and a small tympanic cavity (4/4); unilateral absence of the stapes (1/4); single "columella" crus and hypoplastic footplate (3/4); and unilateral dehiscence of the facial canal in one infant. autolysis limited the examination of the labyrinth, but there was reduction in the number of cochlear spirals, and dilatation of the saccule in both infants. Anomalies of the middle and inner ear can be present without anomalies of the external ear or the central nervous system, and may be found even after relatively short exposures. These anomalies are similar to those detected in experimental exposure to isotretinoin, and are consistent with altered expression of the goosecoid gene.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/34. septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy.We describe a 16-year-old female affected by septo-optic dysplasia (SOD) with digital anomalies as additional feature. This rare developmental anomaly of midline brain structures can result from different pathogenetical events, including mutations of the homeo box gene HESX1, recently suggested as the etiological cause at least in a subset of patients. The absence of mutational involvement of this gene in our patient led us to consider, in alternative terms of pathogenesis, the maternal multidrug abuse occurring during pregnancy. Our report, in accord with previous experimental evidences, points out that illicit drug use might have played a causative role in brain development anomalies, thus our patient could represent an additional case of birth defects caused by a prenatal toxic exposure. The neurologic abnormalities and the clinical history of the patient are extensively reviewed. The need to include the SOD phenotype amongst the possible teratogenic effects of multidrug abuse is evidenced.- - - - - - - - - - ranking = 0.21043669506934keywords = brain (Clic here for more details about this article) |
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