PMID: 8598991Jan 1, 1996Paper

Pulmonary alveolar microlithiasis in children

Pediatric Radiology
H SchmidtR König

Abstract

Two asymptomatic Turkish sibs are presented, a 4-year-old boy and his 7-year-old sister, with pulmonary alveolar microlithiasis (PAM) confirmed by transbronchial lung biopsy and bronchoalveolar lavage. Chest radiographs and high resolution CT demonstrated widespread intra-alveolar calcifications in both lungs. The lesions were sharply defined and less than 1 mm in diameter. CT documented a high concentration of microliths along the bronchovascular bundles, the intralobular fissure and the (sub)pleural lung parenchyma. The combination of bronchoalveolar lavage and roentgenographic appearance in high resolution CT are characteristic and pathognomonic, and can confirm the diagnosis. The more severe changes in the elder sib and the radiographic controls suggest that the pulmonary disease may be progressive in our patients. The described family of consanguineous, unaffected parents with two affected and one healthy child confirmed the autosomal recessive inheritance of PAM (McKusick 265100). In addition, the affected girl had autosomal recessive Waardenburg-anophthalmia syndrome (McKusick 206920), raising the question of whether this is a chance occurrence or possibly a contiguous gene syndrome.

References

Nov 1, 1991·Journal of Computer Assisted Tomography·P CluzelJ D Picard
Apr 1, 1983·American Journal of Medical Genetics·A Richieri-CostaP G Otto

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Citations

Oct 3, 2002·Pediatric Pulmonology·Stipan JankovicDragan Primorac
Oct 28, 2004·The British Journal of Radiology·E L GasparettoD Sakamoto
Feb 19, 2009·Annals of Tropical Paediatrics·M Dahabreh, A Najada
Apr 29, 2010·Pediatric Pulmonology·Ugur OzcelikNural Kiper
Jan 30, 2002·Radiologic Clinics of North America·Jerald P Kuhn, Alan S Brody
May 31, 2015·Frontiers of Medicine·Nidhya GanesanRenu G' Boy Varghese
Dec 21, 2010·Journal of Hazardous Materials·P CensiP Aricò
Nov 28, 2012·Respiratory Medicine·Flávia Angélica Ferreira FranciscoEdson Marchiori
Sep 18, 2015·Radiologia brasileira·Flávia Angélica Ferreira FranciscoEdson Marchiori
May 17, 2002·Veterinary Pathology·M F StarostC J Conti
Sep 5, 2002·American Journal of Medical Genetics·G CastellanaV Lamorgese
Dec 16, 2017·The European Respiratory Journal·Ernst EberFabio Midulla

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