Ann Rehabil Med.  2020 Apr;44(2):165-170. 10.5535/arm.2020.44.2.165.

Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency

• Park J
• Kang SW
• Choi WA
• Lee Y
• Cho HE

• KMID: 2501061
• DOI: http://doi.org/10.5535/arm.2020.44.2.165

Abstract

Freeman-Sheldon syndrome (FSS) is a rare distal arthrogryposis syndrome. There are few reports on the respiratory insufficiency of FSS. Additionally, there is no detailed information on pulmonary functional evaluation. A 17-year-old male patient with FSS developed respiratory failure, leading him to be admitted to hospital several times for evaluation and treatment. Of those times he was admitted, two were due to pneumonia. His pulmonary functions were indicative of a restrictive lung disease potentially caused by severe scoliosis. After a non-invasive ventilatorwas applied correctly to the patient, pulmonary hypertension was normalized. His pulmonary function has been maintained for 13 years. Since receiving proper respiratory care, which includes assisted coughing methods, the patient has not developed pneumonia. It is important to properly evaluate the pulmonary function of patients who have FSS and scoliosis to eliminate the risk of long-term respiratory complications.

Keyword

Freeman-Sheldon syndrome; Respiratory insufficiency; Respiratory function tests

Figure

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  Fig. 1. Characteristic features of Freeman-Sheldon syndrome. (A, B) Face of the patient showing a small mouth with pursed lips, prominent nasolabial folds, a long area between the nose and mouth and sunken eyes. (C,D) Multiple contractures of distal extremities, including camptodactyly. (E) Scoliosis in the patient.

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  Fig. 2. Serial data of the pulmonary function tests. FVCsit%, percent predicted forced vital capacity in sitting position; FVCsup%, percent predicted forced vital capacity in supine position; PCF, peak cough flow; MIPsit%, percent predicted maximal inspiratory pressure in sitting position; MIPsup%, percent predicted maximal inspiratory pressure in supine position; MEPsit%, percent predicted maximal expiratory pressure in sitting position; MEPsup%, percent predicted maximal expiratory pressure in supine position.

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