Military medicine
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Case Reports
Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity.
This case study describes the clinical evaluation and diagnosis of Hurler's syndrome in a 7-month-old child who was noted to have a thoracolumbar kyphosis (gibbus deformity), coarse facial features, and possible evidence of gross motor delay. The diagnosis of Hurler's syndrome was aided specifically by the identification of the gibbus deformity. ⋯ Because of the characteristic progression of neurological and intellectual deterioration found in children with Hurler's syndrome, early diagnosis and treatment are critical to the preservation of long-term intellectual development. The pathophysiology of Hurler's syndrome and the causes of kyphosis in infancy and childhood are discussed.
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A 60-year-old woman with chronic progressive fatigue, diurnal somnolence, proximal muscle weakness, and dyspnea developed acute respiratory failure when given supplemental oxygen. Hypoventilation secondary to neuromuscular dysfunction was suspected by the critical care specialist. ⋯ The discussion includes a literature review that describes the pathophysiology and treatment of this rare muscle enzyme deficiency disorder. Acid maltase deficiency should be suspected in any adult presenting with hypoxemia, fatigue, and acute respiratory failure.