Pulmonary Alveolar Microlithiasis with Klippel-Feil Syndrome: The Eye Does Not See What The Mind Does Not Know

Abstract

Pulmonary alveolar microlithiasis is a rare idiopathic disorder characterized by multiple microliths in the alveoli. Chest X-ray examination show miliary mottling mimicking Tuberculosis. Klippel-Feilsyndromeinclude short neck, low hairline and decreased cervical spine movements. It is a congenital anomaly characterized by the fusion of cervical vertebrae and various congenital defects. The present case report is about a 12-years old girl whose Chest X- ray, CT scanand clinical examination revealed KlippelFeil syndrome and Pulmonary alveolar microlithiasis. Open lung biopsy confirmed the pulmonary alveolar microlithiasis. To the best of our knowledge combination ofPulmonary alveolar microlithiasisandKlippel-Feil syndrome has never been reported before.

Keywords

• Pulmonary alveolar microlithiasis, misdiagnosis, Klippel-Feil syndrome