Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Periventricular nodular heterotopia (PNH) is considered a distinct entity in relation to the other forms of neuronal migration disorders (NMD), because PNH patients usually have normal neurological and mental examination results. We report the case of a 48-year-old woman with bilateral periventricular nodular heterotopia associated with epilepsy, coeliac disease, palatoschisis and other dysmorphic features. Her intelligence quotient (I.Q.) and the results of a neurological examination were normal, but she suffered from a drug-resistant epileptic syndrome characterised by predominantly generalised and sporadic partial seizures. It has recently been suggested that an X-linked dominant inheritance may play a role in bilateral periventricular nodular heterotopia, and it is thought that a genetic defect is probably responsible for coeliac disease. In our patient, a genetic disorder may have produced both diseases and the dysmorphic syndrome, although the coexistence of PNH, epileptic seizures, coeliac disease and palatoschisis could be coincidental. Further observations are needed to ascertain whether the simultaneous presence of these disorders is simply an unusual association of unrelated pathologies or a new and distinct pathological entity.
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PMID:Bilateral periventricular nodular heterotopia associated with coeliac disease and palatoschisis. 1093 74

Deletion of chromosome 22q11 concerns nearly 1/5.000 births, and is the most frequent interstitial microdeletion. The deletion generates various phenotypes which were initially regarded as distinct syndromes. 1) Di George syndrome was described in 1962 by immunologists, and associates thymic and parathyroid hypoplasia, cardiac malformation, and dysmorphic face; the prognosis is severe, as Di George syndrome is a life-threatening condition. 2) The velocardiofacial syndrome was described in 1978 by stomatologists, and associates palate abnormalities, cardiac malformations, dysmorphic faces, and learning disabilities. 3) The Takao syndrome was described in the late seventies by cardiologists as a clinical condition associating cardiac abnormalities and dysmorphic faces. During the nineties, a common molecular etiology was identified, and a new name proposed: CATCH 22, an acronyme for Cardiac abnormalities, Abnormal face, Thymic hypoplasia, Cleft palate, Hypocalcemia, deleted chromosome 22. Furthermore, new phenotypes have been recently recognized, most of them belonging to the psychiatric spectrum. Descriptive studies of large samples of children with 22q11 deletion, conducted, both in the United States and european countries, have shown the following pattern of associated symptoms:--abnormal face (100%), which expression varies with age, and can be discrete;--cardiac abnormalities (84%), including cardiac malformations of conotroncal types;--mouth abnormalities (49%), including cleft palate (14%), and velar dysfunction (20%);--urinary tract abnormalities (36%), including ureteric reflux, lung dysplasia;--transitory hypocalcemia (60%) mostly during infancy, and due to transitory hypoparathyroid dysfunction;--seizures (21%), which are usually a consequence of hypocalcemia;--immunodeficiency (1%), which worsens the prognosis. Deletion of chromosome 22q11 has been also associated with various psychiatric phenotypes, which can be classified into two groups, developmental abnormalities and psychiatric conditions. The great majority of patients with the deletion exhibit impairment of language and motor development, mild mental retardation, persistent coordination deficits, and poor academic performance. The deletion of chromosome 22q11 is also associated with high frequency of behavioral disorder with attention deficit during childhood, and with high frequency of psychotic disorder (bipolar disorder, and schizophrenia) during adolescence and young adulthood. The link between the 22q11 deletion and schizophrenia has been also supported by recent studies showing that the rate of 22q11 deletion in adults with schizophrenia (2%) is higher than it is in the general population. The rate may even be higher (6%) in subjects with childhood onset schizophrenia. The present work reviews the psychiatric literature associated with 22q11 deletion. We also report a case of 22q11 deletion in a 17-year-old girl that was initially diagnosed as paranoid schizophrenia. We will discuss the diagnostic, prognostic, and therapeutic consequences that such a genetic diagnosis implies. In the case reported here, transitory hypocalcemia induced: 1) dystonic symptoms that was believed to be catatonic symptoms or neuroleptic secondary effects, by clinicians; 2) a poor response to neuroleptic medication.
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PMID:[Microdeletion 22q11: apropos of case of schizophrenia in an adolescent]. 1129 38

Maternal use of antiepileptic drugs during pregnancy has been associated with an increased risk of major congenital abnormalities in the fetus. Carbamazepine (CBZ) is an antiepileptic drug that was developed and marketed mainly for the treatment of epileptic seizures. Some investigators described an increased rate of major congenital anomalies following treatment with CBZ during pregnancy while others found no such increase. In order to quantify better the risks of exposure to CBZ during pregnancy, we pooled data from prospective studies known to us. We found in prospective studies involving 1255 cases of exposure that CBZ therapy increased the rate of congenital anomalies, mainly neural tube defects, cardiovascular and urinary tract anomalies, and cleft palate. CBZ may also induce a pattern of minor congenital anomalies and developmental retardation, but our study did not address these endpoints. CBZ also appears to reduce gestational age at delivery. A combination of CBZ with other antiepileptic drugs is more teratogenic than CBZ monotherapy. Children born to untreated epileptic women do not appear to have an increased rate of major birth defects. In light of these results, we recommend performing a level 2 ultrasound and fetal echocardiography in women treated with CBZ during pregnancy.
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PMID:The teratogenic effect of carbamazepine: a meta-analysis of 1255 exposures. 1193 28

Infants with Down syndrome are known to have a high frequency of birth defects, particularly cardiac and gastrointestinal defects. Mental retardation of different degrees is common, but accompanying central nervous system malformations are rare. We report a boy born spontaneously in the 37th postconceptional week with multiple malformations: microcephaly, hypertelorism, blepharophimosis, medial cleft palate, micrognathia, omphalocele, and pathologic palmar and plantar creases. Cardial sonography revealed a ventricular septal defect and mild pulmonary stenosis. Cranial magnetic resonance imaging demonstrated a general but infratentorial stressed brain atrophy with widening of the inner and outer cerebrospinal fluid spaces and dysplasia of the corpus callosum. Chromosomal analysis showed a free trisomy 21. The boy had muscular hypotonia and developed severe motor and mental retardation, accompanied by microsomia and generalized epileptic seizures. At age 8 months, he died of sudden nocturnal respiratory and cardiac failure. The peculiarity of this case is the combination of Down syndrome with midline developmental defects (callosal dysplasia, medial cleft palate, omphalocele) accompanied by severe malformative encephalopathy. There are no previous reports of this combination, but there are genetic links between Down syndrome and midline defects concerning the Drosophila single-minded (sim) gene. The expression pattern of the human sim corresponding gene suggests that it might be involved in the pathogenesis of midline defects in Down syndrome.
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PMID:Midline developmental anomalies in Down syndrome. 1217 71

An 11-month-old boy was discovered to have a cleft palate, club foot, hypospadias, and myoclonic seizures. No in utero exposure to teratogens was identified. Brain MR imaging revealed a middle interhemispheric fusion variant of holoprosencephaly, diffuse polymicrogyria, and a hypoplastic brain stem; this was a distinctly unusual association of findings. We hypothesize that an unknown genetic factor causes disturbances of cleavage of the prosencephalon as well as neuronal migration and organization.
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PMID:Middle interhemispheric variant of holoprosencephaly associated with diffuse polymicrogyria. 1263 88

Osteopathia striata with cranial sclerosis (OSCS), conductive hearing impairment and a characteristic facial appearance is the clinical manifestation in carrier women of an X-linked disease. We report on a family with typical OSCS in the mother, a maternal aunt and the grandmother, and multiple severe malformations in the son. He was affected by cranial sclerosis with frontal bossing, conductive hearing impairment, cleft palate, thoracic dysplasia, mesenterium commune with non-rotation of the gut, anal atresia, bilateral cutaneous syndactyly of 3rd and 4th fingers, duplication of the distal phalanx of 2nd and 3rd fingers on the right, bilateral fibular aplasia with clubfeet, developmental retardation, epileptic seizures, hypothyroidism, and hypertrophic pyloric stenosis. The X-inactivation pattern in peripheral leucocytes of one informative carrier woman was random. Our case and several literature reports confirm that males which are hemizygous for the OSCS trait suffer from a dysmorphic syndrome with characteristic multiple malformations as a distinct entity. There is, at present, no reason to assume genetic heterogeneity with an autosomal dominant OSCS variant.
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PMID:Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS). 1457 72

Cytogenetic and FISH analysis was performed in 139 patients to detect the pathognomonic of Di George/ Velocardiofacial syndrome (DGS/VFCS) deletion 22q11.2. An abnormal karyotype was revealed in 2/139 cases (47, XXY and 46, XX, 2p+). A deletion was found in 17/139 (12.2%) patients (14 males/ 3 females), inherited in 3 (2 maternal and 1 paternal). Patients with 22q11.2 deletion exhibited facial dysmorphic features (82%), congenital heart defects (70%), immunological problems (47%), multiple congenital anomalies (64%), hypocalcemia (47%), mental retardation/learning difficulties (35%), cleft palate/velopharyngeal insufficiency (23.5%), seizures/hypotonia (23%) and growth retardation (12%). Among 56/139 patients with detailed available clinical data, the 22q11.2 deletion was confirmed in all cases with hypocalcemia and in over half of the cases with multiple congenital anomalies, immunological problems and hypotonia/seizures (70%, 60% and 57%, respectively). Genetic reevaluation of 39 patients without the 22q11.2 deletion contributed to the classification of 14 (37%) under different syndromes, emphasizing the need for stricter referral criteria.
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PMID:Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features. 1552

A dysmorphic boy with severe mental retardation was found on array CGH to have an insertional translocation of chromosome 16p13.3 into the short arm of chromosome 22, karyotype 46,XY,.ish der(22),ins(22;16)(p13;p13.3p13.3) de novo. His clinical features overlap with the reported cases of 'duplication 16p' syndrome, namely a round face, hypertelorism, a long philtrum, micrognathia, a thin upper lip, a posterior cleft palate and low set, simple ears, clubbed feet, severe developmental delay, psychomotor retardation and seizures. This 4-year boy with trisomy 16p13.3 has the smallest duplication reported of this critical region, which could not be detected without array CGH. The maximal duplicated region is gene rich and contains about 80 genes and/or candidate genes. Assignment of the genes that contribute to the observed phenotype awaits the characterisation of other patients with small duplications in this region.
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PMID:Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. 1617 32

We report a 15-year-old girl with features of the MURCS (Mullerian abnormalities, renal agenesis/ectopy and cervicothoracic somite dysplasia) association and birth defects not typically associated with MURCS. In addition to seizures and intellectual disability, she has cortical brain heterotopia, bilateral subclinical cataracts, submucous cleft palate and patent ductus arteriosus. We propose that this patient represents a more severe form of MURCS, or 'MURCS-plus', which may represent a defect of or insult to mesodermal morphogenesis.
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PMID:A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus? 1778 21

Crossed pulmonary arteries are due to an anomalous origin of both pulmonary arteries from the main pulmonary trunk. This anatomy is often associated with other congenital cardiac and extracardiac diseases. We report two neonates with complex congenital heart disease who had this disorder, which was detected during cardiac computed tomography (CT) with three-dimensional reconstruction but not during echocardiography or angiography. The first patient was a 3-day-old male neonate who had tachypnea and feeding problems since birth. Cardiac CT showed crossed pulmonary arteries, type B interruption of the aortic arch, a ventricular septal defect, and a large patent ductus arteriosus. He received an emergency T-colostomy at 3 days of age because of severe bowel distention. Low-type imperforated anus was diagnosed. His postoperative course was complicated with fluctuated saturation, seizure, hypocalcemia, hyperphosphatemia, and sepsis. Also found were cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, and a variable deletion on chromosome 22q11 (CATCH 22 disorder). Because of his poor prognosis, the patient was transferred to another hospital on day 16 for further care, at the family's request. The other patient was a 5-day-old female neonate who had a heart murmur since birth. Cardiac CT showed crossed pulmonary arteries, truncus arteriosus, type A interruption of the aortic arch, a ventricular septal defect, an atrial septal defect, and a large patent ductus arteriosus. She received complete surgical correction, including division of the patent ductus arteriosus and repair of the other defects. Intermittent respiratory distress and decreased blood pressure complicated her postoperative course, and she died on the eighth day after surgery. Crossed pulmonary arteries complicated accurate interpretation of two-dimensional echocardiographs of the great vessels, as well as the course and location of catheters during cardiac catheterization. Three-dimensional CT provided a noninvasive approach to clearly recognize these malformations and the related anatomic structures. This information is important in planning and performing surgery in neonates with crossed pulmonary arteries.
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PMID:Crossed pulmonary arteries: report of two cases with emphasis on three-dimensional helical computed tomographic imaging. 1840 Jun 13


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