1/30. monosomy 18q syndrome and atypical rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of rett syndrome. cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defined by molecular analysis with polymorphic markers as a de novo interstitial deletion, paternally derived. The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years. She did not have microcephaly, and the mental delay was obvious from an early age without a period of normal development, which makes the diagnosis of rett syndrome atypical. Previously, a girl with mosaicism for a monosomy 18q associated with rett syndrome has been described. That girl had a terminal deletion of chromosome 18q, which seems to coincide in part with that in the present girl. It is possible that genes in the distal region of 18q are involved in the etiology of rett syndrome.- - - - - - - - - - ranking = 1keywords = epilepsy (Clic here for more details about this article) |
2/30. Syndrome of microcephaly, mental retardation, and tracheoesophageal fistula associated with features of rett syndrome.We report a 12-year-old girl with features of the syndrome of microcephaly, mesobrachydactyly, and tracheoesophageal fistula, who also developed distinctive features of rett syndrome including regression of milestones with repetitive actions, autistic-like behavior, stereotypic hand movements, and seizures. This unique combination of clinical manifestations appears to constitute a "new syndrome." We speculate that this association may represent a contiguous gene syndrome.- - - - - - - - - - ranking = 1.0722620267891keywords = seizure (Clic here for more details about this article) |
3/30. Lamotrigine in two cases of rett syndrome.rett syndrome (RS) is a particular neurodevelopmental disorder in which symptoms develop in early infancy and manifests particular symptoms at certain ages. Two girls aged 4.5 and 2.5-years-old were admitted with complaints of seizures, regression of language, psychomotor development, and autistic behavior. They had fulfilled the criteria of classic RS. Lamotrigine was used in the treatment of the convulsions. After lamotrigine therapy, the convulsions were successfully controlled and the stereotyped hand movements and autistic behaviors markedly decreased. We would like to stress that, aside from convulsion, abnormal signs of the syndrome such as stereotyped hand movements and autistic behaviors might also be improved with lamotrigine, but detailed and controlled studies should be performed to identify whether lamotrigine has any positive effects in RS.- - - - - - - - - - ranking = 1.0722620267891keywords = seizure (Clic here for more details about this article) |
4/30. A case of effective gastrostomy for severe abdominal distention due to breathing dysfunction of Rett's syndrome: a treatment of autonomic disorder.We report a case of 13-year-old-girl with Rett's syndrome and effectiveness of gastrostomy for severe paradoxical respiration, seizures and abdominal distention. Since the age of 3, she was observed to have typical hand-washing movement and autistic behavior. At the age of 8, she began to have hyperventilation and seizures in awake stage. Her symptoms were worse from year to year. At the age of 13, gastrostomy was done to treat severe abdominal distention. Her symptoms were improve dramatically by the gastric air removal through gastrobutton.- - - - - - - - - - ranking = 2.1445240535782keywords = seizure (Clic here for more details about this article) |
5/30. ketogenic diet in rett syndrome.Treatment of rett syndrome with the ketogenic diet has been reported only once and showed positive effects on seizure frequency and behavior. We report a patient with rett syndrome who was treated with the ketogenic diet for 4 years. The diet was initiated at the age of 8 years owing to the patient's refractory epilepsy and led to a 70% reduction in seizures. Treatment with the ketogenic diet was also associated with improvements in contact and behavior. diagnosis of rett syndrome was confirmed by molecular detection of the Ser134Cys mutation in the MECP2 gene, which has previously been described only in classic rett syndrome. This observation demonstrates that the ketogenic diet has a positive effect on rett syndrome.- - - - - - - - - - ranking = 3.1445240535782keywords = seizure, epilepsy (Clic here for more details about this article) |
6/30. rett syndrome in south africa.rett syndrome is a fairly recently recognized neurodevelopmental disorder of unknown aetiology that affects exclusively girls in whom early development is apparently normal but by the age of 6-18 months autistic behaviour and dementia, apraxia of gait, stereotypic repetitive hand movements, seizures and deceleration of head growth occur. Except for one Brazilian case, all previous reported cases have been from the northern hemisphere. We report three children (two Indian and one African) with the clinical features of rett syndrome and believe these to be the first documented cases in Indian and African children in the southern hemisphere. More widespread knowledge of this syndrome is required, especially in developing countries, in order to prevent unnecessary and costly investigations, and to help families deal effectively with this important syndrome.- - - - - - - - - - ranking = 1.0722620267891keywords = seizure (Clic here for more details about this article) |
7/30. The spectrum of phenotypes in females with rett syndrome.Since the discovery of mutations in the methyl-CpG binding protein-2 (MECP2) gene in rett syndrome (RTT) a large number of females have been diagnosed worldwide. In this article we present the clinical and developmental data of 120 RTT females with mutations in the MECP2 gene and individually describe typical and atypical cases. We found a broad spectrum of phenotypes in females. At the severest end we have females with primary developmental delay who never learned to turn, sit or walk and who developed severe epilepsy. At the mildest end of the spectrum, there are females with only minor neurological symptoms who have good gross motor function, speak and have relatively well-preserved hand function. A number of girls either do not fulfil all the necessary diagnostic criteria or present with symptoms that have not been described in RTT before. Comparing our data with the normal population we found that girls with RTT have a smaller occipito-frontal circumference, shorter length and lower weight at birth. As a result of molecular genetic analysis a broad spectrum of phenotypes in RTT females has evolved. We found evidence that the defect in MeCP2 influences the somatic growth before birth.- - - - - - - - - - ranking = 1keywords = epilepsy (Clic here for more details about this article) |
8/30. rett syndrome: a case presenting with atypical seizures. Neurophysiological and clinical aspects.OBJECTIVE: To describe a specific electroclinical type of epileptic seizure in a patient with rett syndrome. PATIENT AND methods: We present the case of a girl with rett syndrome and epilepsy, whose seizures followed two differentiated phases, namely (a) a brief hypertonic onset with tonic-axial predominance, followed by (b) a posterior prolonged clinical absence. These two phases were associated, respectively, to a paroxystic desynchronisation or generalised rapid spikes discharges, followed by a critical slow activity. CONCLUSIONS: The epileptic seizures described in this report have not been previously documented in rett syndrome. We review and discuss pathophysiological hypotheses in the light of this and previously reported cases of the syndrome.- - - - - - - - - - ranking = 8.5058341875236keywords = seizure, epilepsy (Clic here for more details about this article) |
9/30. Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28-month-old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the cortical origin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF.- - - - - - - - - - ranking = 1.0722620267891keywords = seizure (Clic here for more details about this article) |
10/30. Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3). Conclusion: Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.- - - - - - - - - - ranking = 1keywords = epilepsy (Clic here for more details about this article) |
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