Cases reported "Syndrome"

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1/64. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.

    OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.
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keywords = communication
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2/64. Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia.

    We describe an 11-year-old boy of Saudi origin with an interstitial deletion in the short arm of chromosome 4 (p15.32p16.3) as determined by G-banding and fluorescent in situ hybridization. His clinical manifestations were similar but not identical to previously reported cases of interstitial deletion in the same chromosomal region, and were not those associated with wolf-hirschhorn syndrome. The boy had normal facial characteristics, short stature, minor anomalies of hands and feet, amblyopia of the right eye, bilateral hearing loss, and hypotonia. On developmental testing, he had borderline intelligence, with a severe sensory integration and motor planning disorder, and severe deficits in the communication domain. In addition, he had severe oligodontia affecting his secondary dentition. This finding supports the presence of one or more genes involved in dentition in this chromosomal region.
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keywords = communication
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3/64. diagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome.

    The present paper reports the case history of a 50-year-old man born with Usher syndrome, who developed a psychotic illness later in life, to illustrate the specific diagnostic problems, and the value of direct observation and a detailed assessment of communication. The subject had had a significant hearing impairment since birth, problems with balance and developed retinitis pigmentosa, leaving him with progressively limited vision in adult life. A pattern of bizarre and aggressive behaviour, and a disintegration in his ability to communicate using signs developed over 3 months. An initial diagnosis of depression was made, but it later became clearer that the subject had developed a psychotic illness. This condition responded well to a combination of antidepressant and antipsychotic medication. The possible association between Usher syndrome and psychotic illness is also discussed.
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keywords = communication
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4/64. Acute thrombotic-ischemic coronary syndromes: the usefulness of TEC.

    Transluminal extraction catheter (TEC) is a percutaneous device that performs simultaneous thrombus aspiration and plaque excision. Clinical indications for its application are acute myocardial infarction, unstable angina, and stable angina caused by atherosclerotic, thrombotic lesions located within native coronary arteries and degenerated saphenous vein grafts. The device is useful in management of ischemic patients with contraindications to either pharmacologic thrombolytics or platelet GPIIb/IIIa receptor inhibitors, and can also effectively be used in combination with these agents. A successful TEC procedure requires careful patient selection, strict adherence to recommended indications, optimal equipment selection, familiarity with mechanical components of the device, full understanding of safe and efficacious techniques for deployment and activation, as well as recognition of unique associated angiographic manifestations such as the "empty-pouch phenomenon." As with other debulking devices, the incidence of restenosis post-TEC appears to be directly related to acute luminal gain at the time of procedure and therefore requires the need for adjunct stenting. This communication describes and illustrates various clinical, technical, and angiographic aspects of TEC procedure in patients with acute ischemic-thrombotic coronary syndromes. Cathet. Cardiovasc. Intervent. 48:406-420, 1999.
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keywords = communication
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5/64. Platypnoea-orthodeoxia syndrome.

    PLATYPNOEA: orthodeoxia is a rare syndrome of postural hypoxaemia accompanied by breathlessness. The predominant symptom, dyspnoea induced by upright posture, can be debilitating and difficult to discern without thorough evaluation of the patient's pattern of dyspnoea. The precise cause of the syndrome is unclear but patients develop right to left intracardiac shunting in the presence of normal right sided cardiac pressures. Initially, patients should have confirmation of orthostatic desaturation by erect and supine pulse oximetry. However, definitive diagnosis of an orthostatic intracardiac shunt is most readily established by echocardiography. The use of echocontrast with postural manoeuvres may facilitate the diagnosis. The treatment of choice is surgical closure of the intracardiac (usually interatrial) communication, which may result in dramatic symptomatic and haemodynamic improvement. Three cases (a 27 year old man and two women aged 63 and 72 years) are described that exemplify the presentation of this syndrome, and reflect the varied management strategies and outcomes of this condition.
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keywords = communication
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6/64. Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

    We report on a patient with the skeletal findings of Jackson-Weiss syndrome, who manifests only mild craniofacial anomalies. Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations. Mutations in the immunoglobulin-like, II-III (IgII-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, short broad middle phalanges, phalangeal epiphyseal coning and broad halluces. This communication is a further example of the phenomenon of an activated FGFR molecule resulting in overlapping manifestations in FGFR syndromes.
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7/64. Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder.

    Intestinal dysmotility and neurogenic bladder have been described as part of two autosomal-recessive mitochondrial disorders assumed to be due to a defect in communication between the nuclear and mitochondrial genomes: myoneurogastrointestinal encephalopathy (MNGIE) and diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (wolfram syndrome). Partial cytochrome c oxidase deficiency has been described in both. We describe three Ashkenazi Jewish siblings with progressive intestinal dysmotility, neurogenic bladder, and autonomic manifestations but no central nervous system involvement. Cytochrome c oxidase deficiency was demonstrated in peripheral and multiple intestinal muscle biopsies. Mitochondrial dna analysis of an intestinal biopsy of patient 1 showed heteroplasmy consisting of a normal 16.5-kb band and an approximately 28-kb band, suggestive of a duplication. Mitochondrial dna analysis of a muscle biopsy of patient 2 showed multiple deletions, mainly 10- and 11-kb bands. We suggest that this unique combination of intestinal pseudo-obstruction and neurogenic bladder could comprise a new autosomal-recessive mitochondrial disorder.
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ranking = 1
keywords = communication
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8/64. Selective impairment of verb processing associated with pathological changes in Brodmann areas 44 and 45 in the motor neurone disease-dementia-aphasia syndrome.

    We report six patients with clinically diagnosed and electrophysiologically confirmed motor neurone disease (MND), in whom communication problems were an early and dominant feature. All patients developed a progressive non-fluent aphasia culminating in some cases in complete mutism. In five cases, formal testing revealed deficits in syntactic comprehension. comprehension and production of verbs were consistently more affected those that of nouns and this effect remained stable upon subsequent testing, despite overall deterioration. The classical signs of MND, including wasting, fasciculations and severe bulbar symptoms, occurred over the following 6-12 months. The behavioural symptoms ranged from mild anosognosia to personality change implicating frontal-lobe dementia. In three cases, post-mortem examination has confirmed the clinical diagnosis of MND-dementia. In addition to the typical involvement of motor and premotor cortex, particularly pronounced pathological changes were observed in the Brodmann areas 44 (Broca's area) and 45. The finding of a selective impairment of verb/action processing in association with the dementia/aphasia syndrome of MND suggests that the neural substrate underlying verb representation is strongly connected to anterior cortical motor systems.
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ranking = 1
keywords = communication
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9/64. speech patterns in Kabuki make-up syndrome: a case report.

    The case of a girl aged 3 years and 8 months with Kabuki make-up syndrome is reported. At presentation, she had normal cognitive functioning, and she also had a history of otitis media, a submucous cleft palate, and some hypotonia. language testing showed normal receptive skills and good expressive vocabulary but poor morphosyntactic abilities. speech analysis showed that she was capable of producing most of the sounds of her native language but demonstrated high variability in production of the sounds. In addition, she inconsistently simplified words by application of several phonologic processes. Possible explanations for the communication problems demonstrated are discussed.
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ranking = 1
keywords = communication
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10/64. Augmentative and alternative communication methods in locked-in syndrome.

    Locked-in syndrome is a neurological condition due to a brain disease or an injury affecting the brain stem. The symptoms are tetraplegia, double-sided facial paresis, anarthria/dysarthrophonia, dysphagia and reactive involuntary laughing and crying. Vertical eye movements are the only commonly remaining voluntary motor function. Although the linguistic abilities as well as intellectual and emotional functions as a whole remain intact, all the motor abilities of self expression are lost. Seventeen chronic locked-in syndrome patients referred to Kapyla rehabilitation Centre between 1979-2000 are reported. The multidisciplinary rehabilitation team developed an individual alternative communication method for all patients and trained them to use it by minor movements of e.g. thumb, chin or head. An alternative communication method enabled most of the patients to interact with other people using practical as well as theoretical thinking and decision making.
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keywords = communication
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