1/21. Psychogenic non-epileptic seizures: can we make a positive diagnosis?Many disorders other than epilepsy are characterized by paroxysmal events. Psychogenic non-epileptic seizures (NES) form one differential diagnostic group which mimic epileptic phenomena and are caused by various psychic disorders. The diagnosis of NES is mostly based on the exclusion of epilepsy. We review the histories of six patients, who were hospitalized in an epilepsy unit and were diagnosed as having psychogenic NES. Most of them had been previously given the diagnosis of epilepsy. It is suggested that for accurate diagnosis it is very important that a patient initially undergoes psychiatric assessment along with standard diagnostic procedures (e.g. neurologic, psychological and physical investigations), that may encourage making a positive diagnosis of non-epilepsy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/21. early diagnosis of wolf-hirschhorn syndrome triggered by a life-threatening event: congenital diaphragmatic hernia.wolf-hirschhorn syndrome (WHS, OMIM 194190) is a chromosomal disorder characterized by retarded mental and physical growth, microcephaly, Greek helmet appearance of the facies, seizures/epilepsy. Closure defects of lip or palate, and cardiac septum defects occur in 30-50% of cases. Its cause is a deletion in the short arm of chromosome 4. We present a male patient, born after 37 weeks gestation, as the fourth pregnancy of non-consanguineous healthy parents, with unilateral cleft lip and palate, hypertelorism, a right-sided ear tag, and mild epispadias. At age 10 weeks he developed acute respiratory distress and acute bowel obstruction requiring emergency laparotomy. This revealed a left-sided posterolateral diaphragmatic defect, type Bochdalek, with incarceration of the small intestines necessitating major bowel resection. Clinical genetic investigation suggested a chromosome anomaly, but regular karyotyping was normal. However, FISH analysis showed a microdeletion in the short arm of chromosome 4 (4p-), consistent with WHS. A combination of this syndrome with congenital diaphragmatic hernia (CDH) has been rarely described. CDH can present either as an isolated defect at birth, or with multiple congenital abnormalities, or as part of a defined syndrome or chromosomal disorder. Therefore CDH, although not common in WHS, can lead to its diagnosis relatively early in life. We strongly recommend a clinical genetic evaluation of each CDH patient with facial anomalies taking into consideration 4p- deletion syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/21. Physical and developmental phenotype analyses in a boy with wolf-hirschhorn syndrome.wolf-hirschhorn syndrome (WHS) is a rare genetic condition with characteristic facial traits, organ malformations, functional impairment and developmental delay due to partial short arm monosomy of chromosome 4. Although several hundreds of cases have been published to date, a systematic collection of its clinical symptoms and anthropological traits is missing in the literature, and reports on abilities and needs of children with WHS are scanty. Results of detailed physical and developmental phenotype analyses in a 1 10/12-year-old boy with monosomy 4p15.2-pter are presented. Physical analyses were based on systematic data acquisition. They disclosed a total of 32 clinical symptoms and 46 anthropological traits. Developmental analyses were based on the child's interactive play in an environment structured according to Montessori principles. They disclosed a total of 44 abilities and a number of needs to be satisfied by the environment for the support of the child's psychic and intellectual growth. While the physical phenotype is important for the diagnostic process, the developmental phenotype is essential for parental counseling.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
4/21. Phobic anxiety and clumsiness in a 10-year-old girl.During assessment of a girl with a long-standing phobic state, it was found that she also had previously unrecognised perceptuo-motor problems, which were associated with continuing problems in balance and spatial awareness. Her phobia improved after a desensitisation programme, but the physical disorder persisted, despite physiotherapy. The authors conclude that the girl's phobic anxiety may have had its origin in her experience of the perceptual disorder during development.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/21. Teratogenic effect of carbamazepine.A girl was born to a mother who had undergone treatment for epilepsy with carbamazepine during pregnancy. The infant had dysmorphic features and was physically and mentally retarded. We consider that the malformations were the result of the maternal treatment with carbamazepine.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/21. Muscle involvement in a case of oculocutaneous albinism.A 2-month-old girl with tyrosinase-positive oculocutaneous albinism (OCA) and severe muscle hypotonia is reported. She was admitted to our hospital because of poor sucking and poor weight gain. On physical examination she was found to have generalized muscle weakness and multiple anomalies including deafness, mental retardation, cataracta and a high-arched palate. A muscle biopsy showed marked variation in fiber size with bimodal distribution, suggesting a neuropathic process. Since electromyography showed a myopathic pattern, CK was definitely elevated and muscle histologic examination did not show any denervation of the type found in Werdnig-Hoffmann disease, the present disorder was assumed to be caused either by hardly developed motoneurons or by abnormal interaction between muscles and nerves.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/21. trisomy for the distal third of the long arm of chromosome 19 in brother and sister.trisomy for the distal third of the long arm of chromosome 19 was observed in a 12-year-old boy and his 9-year-old sister. Both are affected by extremely severe statural and psychomotor retardation. The physical symptoms common to both are dwarfism, micro- and brachycephaly, antimongoloid slant of the eyes, hypertelorism, ptosis, short nose, short philtrum, poorly formed ears, short neck with excess skin, barrel-shaped thorax, diastasis of rectus muscles, kyphosis, sacral dimple, excess of digital arches, pedes valgi, laterally curved big toes, epilepsy and muscular hypotonia. The chromosomal anomaly was transmitted by the mother, who is the carrier of a translocation t(19;20)(19q133;20pter). In the pedigree, extending over four generations, among 30 pregnancies fathered or mothered by 5 carriers resulted in: 6 individuals with normal karyotype, 9 carriers, 2 confirmed and 2 presumptive unbalanced abnormal children, and 10 abortions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/21. 'De novo' trisomy 16q11 to pter.A de novo 16q- trisomy was found in a patient with severe mental retardation and mild physical abnormalities. A preliminary delineation the clinical features characteristic of trisomy 16q- is proposed, based upon comparison of the two cases identified so far. The mild phenotypical effects of this chromosome imbalance suggest that the alleged lethality of partial chromosome 16 aneuploidies should be reconsidered.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/21. Clinical delineation of proximal and distal partial 13q trisomy.The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal Hb and increased number of nuclear projections on neutrophils are consistent findings associated with partial trisomy of a proximal segment of chromosome 13 and are diagnostic for trisomy of a partial segment of chromosome 13 that contains bands 13q12 and 13q14. The physical features of polydactyly and hemangioma have been mapped to bands 13q31 and 13q32 13qter and provide a differential diagnosis for a distal trisomic segment of chromosome 13 that may include bands 13q22 13qter. A segment of chromosome 13 has been identified that does not produce any detectable phenotypes in the triplicated state. The possible role of a triplicated 13q segment in altering expression of structural and regulatory systems elsewhere in the genome has been examined. Distinct clinical syndromes involving either a partial proximal or partial distal trisomic segment of chromosome 13 may be phenotypically defined.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/21. Evidence for the assignment of GUK 1 gene locus to 1q32 leads to q43 segment from gene dosage effect.A male infant with dup (1) (q32 leads to q43) constitution is reported. He had mental and physical retardation and a constellation of dysmorphisms, which are considered characteristic of trisomics for the distal one-third of the long arm of chromosome 1. The assay for guanylate kinase 1 (GUK 1) activity showed a gene dosage effect and confirmed the regional assignment of this marker in the chromosomal region indicated by data derived from somatic hybrids.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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