Abstract
Coffin-Lowry syndrome is expressed as different phenotypes in males and females. In males, it is characterized by facial abnormalities, marked developmental disability, and skeletal changes. Approximately 80% of cases are associated with kyphoscoliosis, which can be quite severe, as seen in our patient, causing paraplegia and restrictive lung disease. In this article, we present the third oldest documented male case of Coffin-Lowry syndrome with severe kyphoscoliosis, paraplegia, and restrictive lung disease.
Highlights
Coffin-Lowry syndrome (CLS) usually presents as facial dysmorphism, psychomotor and growth retardation, digit abnormalities, and progressive skeletal changes as described by Pereira et al.[1]
The skeletal abnormalities in these patients can be quite severe and exaggerated as seen in our patient leading to paralysis and respiratory complications including restrictive lung disease
Journal of Investigative Medicine High Impact Case Reports. This patient’s kyphoscoliosis is so severe, even in terms of CLS, that at the time of this hospitalization he was officially diagnosed with restrictive lung disease causing hypoxemia of 86% on room air
Summary
Coffin-Lowry syndrome (CLS) usually presents as facial dysmorphism, psychomotor and growth retardation, digit abnormalities, and progressive skeletal changes as described by Pereira et al.[1]. This study was followed by a computed tomography of the chest revealing the extent of skeletal abnormality (Figures 3 and 4). This patient suffered from undiagnosed chronic respiratory failure caused by restrictive lung disease secondary to congenital kyphoscoliosis. There was an initial concern for aspiration pneumonia because of leukocytosis and declining respiratory function with a new arterial blood gas pH of 7.23 with PCO 84 and HCO 35; induced sputum cultures solely grew normal throat flora.
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