Cases reported "Achondroplasia"

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11/16. Respiratory complications of achondroplasia.

    Nine patients with achondroplasia who were seen over a three-year period developed significant respiratory complications. Eight had sleep-disordered breathing, including obstructive sleep apnea in five, for which two required tracheostomy. Of the seven patients with significant hypoxemia, five had clinical evidence of cor pulmonale and recurrent pulmonary infiltrates. Two patients died, one with autopsy findings of compression of the medulla at the level of the foramen magnum and one with respiratory and cardiac failure. Appropriate therapy for our patients depended on recognition of the mechanisms that led to the respiratory complications, including (1) chest deformity, (2) upper airway obstruction and sleep-disordered breathing, (3) neurologic complications, and (4) coincidental chronic pulmonary conditions such as asthma.
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keywords = airway obstruction, airway, obstruction
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12/16. hydrocephalus in achondroplasia: a possible mechanism.

    The relationship of achondroplasia and hydrocephalus has long been the subject of debate. The authors present two patients with these conditions who responded dramatically to shunting procedures. Diagnostic studies implicated venous outflow obstruction in the pathogenesis of their disease.
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ranking = 0.023504425499413
keywords = obstruction
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13/16. multiple trauma in the achondroplastic dwarf: an emergency medicine physician perspective case report and literature review.

    Although uncommon, the achondroplastic dwarf (AD) may become the victim of multiple trauma, presenting special challenges for the emergency department (ED) physician. Traditional management of airway, breathing, circulation, and neurological disability is altered by the unique anatomic features of achondroplasia. Despite facial abnormalities observed in the AD, orotracheal and nasotracheal intubation are usually accomplished without particular difficulty; however, abnormalities of the base of the skull and cervical spine make hyperextension of the neck especially hazardous in these patients. The lungs are functionally normal, although vital capacity is decreased and thoracic case abnormalities and abdominal obesity impair lung expansion. Vascular access in the AD is difficult. Peripheral access is difficult because of excessive subcutaneous fat, whereas central venous access is complicated by neck, chest wall, and spinal abnormalities that obscure commonly used anatomic landmarks. Major neurological syndromes observed in ADs are hydrocephalus, cervical medullary compression, and thoracolumbar stenosis. The ED physician should recognize these syndromes, their potential to produce neurological disability, and their unique implications for trauma.
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ranking = 0.062018468344274
keywords = airway
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14/16. urine leakage from the umbilicus in a child with achondroplasia and tetraplegia (due to cervical stenosis): a safety vent for the obstructed neuropathic bladder.

    urine leakage from the umbilicus was observed while expressing urine by the Crede manoeuvre in a three-year-old tetraplegic girl with a chronically distended urinary bladder. Intravenous urography (IVU) revealed bilateral hydroureteronephrosis with markedly distended urinary bladder. Regular three hourly intermittent catheterization was advised, and the parents and carers of this child agreed to perform catheterization. There was cessation of urine leak within 48 hours of urethral drainage. Cystography performed two weeks later showed no vesicoureteric reflux; vesicoumbilical fistula was no longer demonstrable. Follow-up IVU, performed after eight and half months of regular intermittent catheterization, showed regression of hydroureteronephrosis. We believe that urine leakage from the umbilicus served two important protective functions in this child, viz. (1) it prevented possible vesical or renal rupture; (2) the striking clinical symptom of urine leak from the umbilicus focussed the attention of the carers to the underlying serious condition of the urinary tract. Further, this case demonstrates that regression of marked hydroureteronephrosis can be achieved by intermittent catheterization performed at regular intervals by devoted parents/carers, in selected cases of spinal cord injury with neuropathic bladder, and vesical outlet obstruction, thus obviating the need for any form of temporary or permanent urinary diversion.
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ranking = 0.023504425499413
keywords = obstruction
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15/16. anesthesia for an achondroplastic dwarf with bilateral vocal cord granuloma: use of a Xomed Hunsaker Mon-Jet ventilation tube.

    Technological advances have greatly improved the management of the patient undergoing microlaryngeal surgery. The use of a laser, high frequency jet ventilation (HFJV), total intravenous anesthetic techniques (TIVA), and specially designed endotracheal tubes (Xomed Hunsaker Mon-Jet ventilation tube [Xomed Surgical Products, Jacksonville, FL]) are recognized as cutting edge approaches to the management of these cases. The use of high technology adjuncts requires considerable skill and knowledge from the perspective of the anesthesia provider. This case report describes an approach to anesthetic management for a patient with a history of achondroplastic dwarfism having laser excision of bilateral vocal cord granulomas. Further increasing the complexity of the case was the surgical use of an autogenous tissue glue, which required a period of 'airway silence' during the application process.
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ranking = 0.062018468344274
keywords = airway
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16/16. bethanechol chloride in neurogenic bladder dysfunction.

    Representative case summaries of patients with different types of neurogenic bladder diagnosed by combined cystometric-perineal electromyography and treated with bethanechol (Urecholine) are presented. Determination of the activity of the periurethral striated muscle in relation to bladder dysfunction is extremely important in the selection of patients for bethanechol therapy. In the absence of structural obstruction, bethanechol can be used in patients with (1) the early phase of coordinated reflex neurogenic bladder and sphincter when there is incomplete bladder emptying due to feeble or unsustained detrusor contractions, (2) recovery phase of spinal shock when the periurethral striated muscle has recovered and is under voluntary control, (3) incomplete motor paralytic bladder with coordinated sphincter, and (4) sensory paralytic bladder with decompensation. The bethanechol regimen will vary in accordance with the type of bladder being treated.
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ranking = 0.023504425499413
keywords = obstruction
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