Cases reported "Achondroplasia"

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1/4. Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature.

    The authors report the case of a girl with achondroplasia suffering from a progressively worsening hypotonic quadriparesis. CT scan showed slight dilatation of ventricular and subarachnoid spaces, with well-defined evidence of cortical sulci and gyri. This aspect was compatible with the diagnosis of macrocrania and megalencephaly (CP being 51 cm). The foramen magnum was narrowed, the transverse diameter measuring 15 mm and the 50th percentile being, for age, 26 mm. Somatosensory evoked potentials (SEPs) revealed bilaterally prolonged interpeak latencies Erb-N13, slowing of central conduction time N13-N20 from right median nerve stimulation, and block from left median nerve. The suspicion of cervicomedullary compression was confirmed by MRI, showing a very marked stenosis with compression exerted by the odontoid process. Further, a stenotic cervical canal and optic nerves verticalization were manifest. The patient underwent neurosurgical decompression by suboccipital craniectomy and cervical-C1 laminectomy. In spite of treatment, both neurologic and respiratory problems (rapid, shallow and almost abdominal breathing) were unchanged. The girl died 4 1/2 months later. The authors emphasize the important role of SEPs in detection of cervicomedullary compression in achondroplastic children and also stress the necessity of an early surgical treatment as the only condition for possible clinical improvement and/or full recovery.
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2/4. Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia?

    We have observed apneustic breathing in five patients with achondroplasia. In contrast to experimental models of apneusis, these patients appeared to have intact vagal function and no evidence of pontine disease. However, all our patients displayed clinical, structural, and electrophysiologic features of cervicomedullary compression, a well-recognized complication of achondroplasia. The degree of apneustic breathing was reduced in the majority of our patients following decompressive surgery. Traditional theories on the pathogenesis of apneustic breathing cannot satisfactorily explain the presence of apneustic breathing in our patients. We suggest that cervicomedullary compression may be capable of producing apneustic breathing in the absence of vagal or pneumotaxic center lesions.
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3/4. 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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4/4. 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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