Cases reported "Rett Syndrome"

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1/9. bruxism in rett syndrome: a case report.

    rett syndrome is a unique and puzzling disorder noted in females and is possibly caused by fundamental failures in critical brain connectivity during early infancy. The most frequent habits in rett syndrome are hand sucking or biting, bruxism and mouth breathing. Children with musculoskeletal disorders and children who suffer from mental retardation commonly grind their teeth. A five year old female case with rett syndrome is presented with significant bruxism in this article.
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2/9. 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.
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3/9. Neurodevelopmental disorders in males related to the gene causing rett syndrome in females (MECP2).

    Mutations in the MECP2 (methyl-cpg-binding protein 2) gene are known to cause rett syndrome, a well-known and clinically defined neurodevelopmental disorder. rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical rett syndrome when the mutation arises as somatic mosaicism or when they have an extra x chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.
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4/9. 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.
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5/9. Clinical profile of a male with rett syndrome.

    We describe a clinical profile of a male with rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosis and has osteoporosis sleep problems and sludging in his gall bladder. Prior to diagnosis he underwent comprehensive neurological, metabolic and genetic investigations. After his older sister was diagnosed with atypical rett syndrome; MECP2 mutation studies on him revealed a pathogenic mutation. His mother is a Rett carrier with a skewed inactivation of chromosome X. Clinical signs and symptoms required to meet the criteria for diagnosis of rett syndrome have gradually evolved over time. This case demonstrates an unusual family history for rett syndrome and alerts readers to the utility of screening males for rett syndrome.
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6/9. Management of a severe forceful breather with rett syndrome using carbogen.

    We have used a novel neurophysiological technique in the NeuroScope system in combination with conventional electroencephalography (EEG) to monitor both brainstem and cortical activity simultaneously in real-time in a girl with rett syndrome. The presenting clinical features in our patient were severe sleep disturbances, irregular breathing in the awake state dominated by Valsalva's type of breathing followed by tachypnoea and very frequent attacks of seizures and vacant spells. Our novel neurophysiological data showed that the patient was a Forceful Breather according to the breathing categories in rett syndrome. She had frequent abnormal spontaneous brainstem activation (ASBA) preceded by severe attacks of hypocapnoea, which was caused by a combination of Valsalva's type of breathing and tachypnoea and all these together were responsible for the seizures and non-epileptic vacant spells. The ASBA was not detectable in conventional EEG and there were no epileptiform changes in the EEG during the seizures and vacant spells caused by the hypocapnic attacks, therefore these were pseudo-seizures. The record of brainstem activity confirmed that these were autonomic events, a kind of "brainstem epilepsy". We successfully treated the sleep disturbance with Pipamperone, a 5-hydroxytryptophan antagonist of receptor type 2 and we prevented the severe hypocapnoea during Valsalva's type of breathing and during tachypnoea using carbogen (a mixture of 5% carbon dioxide and 95% oxygen), which we gave by inhalation. Our treatment drastically reduced the autonomic events, promoted whole night sleep and significantly improved the quality of life in our patient. She can now participate in normal family activity which was previously impossible before treatment.
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7/9. rett syndrome: case reports and review.

    rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in new zealand are described.
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8/9. insulin-dependent diabetes mellitus presenting with ketoalkalosis in rett syndrome.

    A 9-year-old girl with rett syndrome presented with typical symptoms of insulin-dependent diabetes mellitus. Upon investigation she was found to have a primary respiratory alkalosis associated with diabetes ketoacidaemia. Once non-ketotic normoglycaemia was achieved her respiratory alkalosis persisted. This was felt to be due to an abnormal breathing pattern of hyperventilation punctuated by apnoeas which is associated with rett syndrome.
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9/9. Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome.

    We present a patient with distinctive clinical manifestations resembling those first described by Pitt and Hopkins in 1978 [Aust Pediatr J 14:182-184] as a separate entity. Cardinal findings in this syndrome are mental retardation, "coarse" face, and an abnormal breathing pattern. The symptoms in this patient are different from those in the Joubert syndrome, rett syndrome, Rett-like variants, and of a case reported by Leifer et al. [1991: Dysmorph Clin Genet 5:42-47]. The manifestations in our patient and in the case described by Singh [1993: J Paediatric child health 29:156-157] seem to confirm the delineation of this syndrome the cause of which remains unknown.
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