Cases reported "Syndrome"

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21/193. myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K channel.

    KCNQ2 and KCNQ3 are two homologous K( ) channel subunits that can combine to form heterotetrameric channels with properties of neuronal M channels. Loss-of-function mutations in either subunit can lead to benign familial neonatal convulsions (BFNC), a generalized, idiopathic epilepsy of the newborn. We now describe a syndrome in which BFNC is followed later in life by myokymia, involuntary contractions of skeletal muscles. All affected members of the myokymia/BFNC family carried a mutation (R207W) that neutralized a charged amino acid in the S4 voltage-sensor segment of KCNQ2. This substitution led to a shift of voltage-dependent activation of KCNQ2 and a dramatic slowing of activation upon depolarization. myokymia is thought to result from hyperexcitability of the lower motoneuron, and indeed both KCNQ2 and KCNQ3 mRNAs were detected in the anterior horn of the spinal cord where the cells of the lower motoneurons arise. We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC.
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22/193. Delayed-onset heparin-induced thrombocytopenia and thrombosis.

    BACKGROUND: heparin-induced thrombocytopenia is a prothrombotic drug reaction caused by platelet-activating antibodies that recognize complexes of platelet factor 4 and heparin. OBJECTIVE: To describe a syndrome termed delayed-onset heparin-induced thrombocytopenia, in which thrombocytopenia and thrombotic events begin 5 or more days after withdrawal of heparin. DESIGN: Case series. SETTING: Secondary and tertiary care hospitals. PATIENTS: 12 patients who presented with serologically confirmed, delayed-onset heparin-induced thrombocytopenia, including 6 outpatients presenting after hospital discharge. MEASUREMENTS: The platelet serotonin-release assay was used to measure IgG-induced heparin-dependent and heparin-independent platelet activation; an enzyme immunoassay that detects IgG against platelet factor 4-heparin complexes was also used. RESULTS: Patients with delayed-onset heparin-induced thrombocytopenia presented with thrombocytopenia and associated thrombosis a mean of 9.2 days (range, 5 to 19 days) after stopping heparin therapy. Nine patients received additional heparin, with further decrease in platelet counts. Compared with controls, patients with delayed-onset heparin-induced thrombocytopenia had higher titers of IgG antibodies to platelet factor 4-heparin and greater IgG-induced heparin-dependent and heparin-independent platelet activation. CONCLUSIONS: Delayed-onset heparin-induced thrombocytopenia should be suspected when patients present with thrombocytopenia and thrombosis up to 3 weeks after exposure to heparin. This syndrome could be caused by high titers of platelet-activating IgG induced by heparin.
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23/193. Asymmetric arthrogryposis multiplex congenita with focal pachygyria.

    A male infant with predominantly right-sided arthrogryposis multiplex congenita is presented. His posture in the lower extremities was asymmetric, and left thoracic scoliosis was present. This patient also manifested focal pachygyria dominantly affecting the contralateral cerebral hemisphere and hypoplasia of the corpus callosum, brainstem, and cerebellar vermis. Generalized tonic seizures began at 2 months of age, and an electroencephalogram revealed epileptic discharge. biopsy of the right biceps revealed a nonspecific change. A direct causal relationship between neuronal migration disorders and arthrogryposis multiplex congenita has not been established, but considering the abnormal neuronal migration along the entire neural axis in focal pachygyria, the predominantly right-sided arthrogryposis in this patient was speculated to be closely related to the pachygyria of the frontal and temporal lobes dominantly affected in the left cerebral hemisphere.
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24/193. Fluctuant, progressive hearing loss associated with Meniere like vertigo in three patients with the Pendred syndrome.

    OBJECTIVE: To evaluate vestibular and long-term audiometric findings in patients with Pendred syndrome. Study design: Retrospective analysis of long-term clinical data. SETTING: University hospital department. PATIENTS: Three patients with Pendred syndrome caused by a mutation in the SLC26A4 gene. methods: Perchlorate discharge test, mutation analysis of the SLC26A4 gene, MR imaging of temporal bones, vestibular function test (in two cases) and serial audiometry. A saturation hyperbola with onset age was fitted to the audiometric threshold-on-age data using a nonlinear regression method. The residues remaining after regression were analyzed in a correlation analysis to detect significant ipsilateral or contralateral cofluctuation. RESULTS: All three patients had a mutation in the SLC26A4 gene and bilateral enlarged vestibular aqueduct; two of them had a positive perchlorate discharge test but in one of two siblings this test was negative. hearing loss was significantly progressive with significant ipsilateral and contralateral cofluctuation in all evaluable cases, combined with episodes of Meniere like vertigo in two cases. The episodes of vertigo are as seen in meniere disease. One case had unilateral caloric areflexia and one had bilateral vestibular hyporeflexia, proven to be progressive in a repeat examination. CONCLUSIONS: Patients with Pendred syndrome may exhibit progressive and fluctuant hearing loss with episodes of vertigo.
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25/193. mucus fishing syndrome: case report and new treatment option.

    BACKGROUND: mucus fishing syndrome (MFS) is a cascading cyclic condition characterized by continuous extraction of mucous strands from the eye. It is usually initiated by ocular irritation. In response to irritation, ocular surface cells produce excess mucus. A "snow balling" cycle begins when the patient extracts ("fishes") excess mucus from the ocular surface, thereby causing further irritation and a more-profound mucous discharge. To date, treatment includes eliminating the initiating element and educating the patient not to touch the eye when extracting the excess mucus, CASE REPORT: Presented is a case of mucus fishing syndrome initiated by dry eye. The patient's diagnosis, MFS, was identified by persistent mucous discharge, his admittance and demonstration of digitally extracting mucus from the ocular surface, and a characteristic rose bengal staining pattern. The conventional treatment initiated by using artificial tears for the dry eye condition and educating the patient not to touch the ocular surface did not provide relief from the excess mucous discharge. Therefore, a new approach to treatment was pursued. In order to break the cycle, a mucolytic agent and an antihistamine-mast cell stabilizer were prescribed, until the ocular surface healed. After treatment, the patient reported alleviation of symptoms and demonstrated improvement in ocular surface integrity by a profound reduction in rose bengal staining. CONCLUSION: mucus fishing syndrome is challenging to resolve with conventional treatment because it requires a certain level of psychological tolerance and perseverance from the patient. By eliminating the present mucus and diminishing mucous production pharmacologically, the practitioner is able to remove the stimulus for digital extraction and thus accelerate ocular surface healing. We present a proposed new treatment option for patients who are refractory to conventional treatments.
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26/193. Atypical evolution of Panayiotopoulos syndrome: a case report.

    Panayiotopoulos syndrome is a relatively common condition with susceptibility to early onset benign childhood seizures, which manifests primarily with autonomic and mainly emetic symptoms. It predominantly affects children of 3-6 years of age (13% of those with one or more non-febrile seizures). EEG shows great variability, with occipital, extra-occipital spikes or brief generalised discharges alone or in combination; it may also be consistently normal. Occipital spikes do not occur in one third of children. Despite the high prevalence of autonomic status epilepticus, the prognosis of Panayiotopoulos syndrome is usually excellent. Remission usually occurs within 1-2 years from onset, one third have a single seizure but 5-10% may have more than 10 seizures or a more prolonged course. Atypical evolutions with absences, atonic seizures and intellectual deterioration are exceptional; only two cases have been previously reported. We present a girl who initially had a prolonged autonomic status epilepticus typical of Panayiotopoulos syndrome, followed by seizures, with concurrent symptoms of Rolandic epilepsy. She then had an atypical evolution with atypical absences, absence status epilepticus, atonic seizures and mild impairment of scholastic performance. The case emphasises the close links between Panayiotopoulos syndrome and Rolandic epilepsy, both of which probably represent different clinical phenotypes of a maturational-related benign childhood seizure susceptibility syndrome [published with videosequences].
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27/193. Bilateral Lemierre's syndrome: a case report and literature review.

    Lemierre's syndrome is characterized by thrombosis of the internal jugular vein that develops following an oropharyngeal infection. sepsis and septic metastases frequently ensue and affect the lungs, the musculoskeletal system, and occasionally the liver. Most cases are caused by infection with fusobacterium necrophorum. This infection responds to antibiotic therapy with beta-lactamase-resistant compounds that exert good anaerobic coverage. Anticoagulation and surgical intervention can be helpful in advanced cases. Fewer than 160 cases of classic Lemierre's syndrome have been described; approximately one-third of these reported cases have occurred since 1988. We describe a new case of Lemierre's syndrome that occurred in an otherwise healthy 27-year-old man. thrombosis of both internal jugular veins extended through the subclavian system and into both upper extremities. The patient was treated with intravenous antibiotics and heparin during 14 days of hospitalization. He was discharged on oral clindamycin and warfarin sodium, and after 6 months he was able to return to full activity. To our knowledge, this is the first reported case of Lemierre's syndrome in which internal jugular vein thrombosis occurred bilaterally. By reporting this previously undescribed manifestation of Lemierre's syndrome, we hope to increase practitioner awareness of this disease entity.
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28/193. Minimally invasive approach to Boerhaave's syndrome: a pilot study of three cases.

    BACKGROUND: Boerhaave's syndrome requires urgent thoracotomy, laparotomy, or both for esophageal repair and pleuromediastinal debridement. Minimally invasive techniques may be suitable alternatives. MATERIALS AND methods: Over a period of 12 months, three patients with spontaneous esophageal perforations after forceful vomiting were treated by a combination of minimally invasive techniques including laparoscopy, thoracoscopy, mediastinoscopy, and endoscopic stenting. RESULTS: Esophageal repair was performed transhiatally via laparoscopy using primary suture, primary suture reinforced by a fundic patch, and fundic patch alone in one patient each. One patient had a second perforation of the proximal esophagus, which was sutured through a cervical incision. This patient successfully underwent secondary endoscopic stenting for a persistent esophageal fistula. Mediastinal debridement was performed transhiatally and also by means of a mediastinoscope introduced via the cervical incision in one patient. One patient required secondary thoracoscopic debridement of a pleural empyema but died of sepsis after 1 month. The two other patients recovered and were discharged from the hospital after 2 and 8 weeks, respectively. CONCLUSIONS: Boerhaave's syndrome is amenable to minimally invasive techniques. Avoidance of a formal thoracotomy with its resulting morbidity could be of considerable benefit to these critically ill patients.
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29/193. Successful treatment of duodenal bulb obstruction caused by a gallstone (Bouveret's syndrome) after endoscopic mechanical lithotripsy.

    Because of acute symptoms in the upper abdomen, upper gastrointestinal endoscopy was performed in a 68-year-old man. A large perforated gallstone was embedded in the duodenum, causing complete obstruction of the duodenal bulb. The stone was crushed successfully by endoscopic mechanical lithotripsy. The patient was referred for surgery, and was discharged after a successful and uneventful cholecystectomy.
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30/193. Atypical Lennox-Gastaut syndrome successfully treated with removal of a parietal dysembryoplastic tumour.

    Focal brain lesions may be associated with the atypical form of Lennox-Gastaut syndrome (LGS). We describe a drug resistant LGS patient with daily seizures and a left parietal dysembryoplastic neuroepithelial tumour. Pre-surgical evaluation showed, in addition to diffuse paroxysmal EEG discharges associated with atonic and tonic axial seizures, lateralizing EEG and clinical signs pointing to left hemisphere origin of the seizures. The patient was treated with lesionectomy and after 12 months of follow-up is still seizure free. This case suggests that in patients with LGS and focal lesions the possibility of correct identification of the epileptogenic zone using anatomo-electro-clinical correlations may be the key element for 'curative' surgery.
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