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

Authors

  • Muhammad Tahir Khadim
  • Nisar Ahmed
  • Asif Asghar
  • Rahat Rao
  • Kiran Nauman
  • Syed Raza Jaffar

Keywords:

Pulmonary alveolar microlithiasis, misdiagnosis, Klippel-Feil syndrome

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.

References

Friedrich N. Coporaamylacea in den lungen. Arch pathol Anat. 1856;9:613-8

Sosman MC, Dodd GD, Jones WD, Pillmore GU. The fam-ilial occurrence of pulmonary alveolar microlithiasis. Am J Roentgenol Radium TherNucl Med.1957;77:947–1012.

Harbitz F. Extensive calcifications of the lungs as distinct disease. Arch Intern Med.1918;21:139–46.

Klippel M, Feil A. Uncasd'absence des vertebre scervi-cales. Avec cage thoraci queremontantjusqu'a la base du crane (cage thoraci quecervicale). NouvIconogSalpetriere. 1912;25:223-50.

Mariotta S, Ricci A, Papale M, De Clementi F, Sposato B, Guidi L, et al. Pulmonary alveolar microlithiasis: report on 576 cases published in the literature. Sarcoidosis Vasc Diffuse Lung Dis.2004;21:173–81.

Tachibana T, Hagiwara K, Johkoh T. Pulmonary alveolar microlithiasis: Review and management. CurrOpinPulm Med. 2009;15:486–90.

Göcmen A, Toppare MF, Kiper N, Büyükpamukcu N. Tr-eatment of pulmonary alveolar microlithiasis with dipho-sphonate: Preliminary results of a case. Respiration.1992; 59:250–2.

Gray SW, Romaine CB, Skandalakis JE. Congenital fus-ion of the cervical vertebrae. Surg Gynecol Obstet.1964; 118:373-85.

Erol FS, Ucler N, Yakar H. The association of Chiari type III malformation and Klippel-Feil syndrome with mirror movement: a case report. Turk Neurosurg. 2011;21(4):655-8.

Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. Cervical scoliosis in the Klippel-Feil patient. Spine (Phila Pa 1976). Nov 1 2011;36(23):E1501-8.

Naikmasur VG, Sattur AP, Kirty RN, Thakur AR. Type III Klippel-Feil syndrome: case report and review of associated craniofacial anomalies. Odontology. Jul 2011;99(2): 197-202.

Papanastassiou ID, Baaj AA, Dakwar E, Eleraky M, Vrio-nis FD. Failure of cervical arthroplasty in a patient with adjacent segment disease associated with Klippel-Feil syndrome. Indian J Orthop. Mar 2011;45(2):174-7

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Published

2015-06-04

How to Cite

Khadim, M. T. ., Ahmed, N. ., Asghar, A. ., Rao, R. ., Nauman, K. ., & Jaffar, S. R. (2015). Pulmonary Alveolar Microlithiasis with Klippel-Feil Syndrome: The Eye Does Not See What The Mind Does Not Know. Journal of Bahria University Medical and Dental College, 5(2), 95–97. Retrieved from https://jbumdc.bahria.edu.pk/index.php/ojs/article/view/608

Issue

Section

Case Report