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Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
Neonatal-Onset Transient Subcutaneous Nodules as an Atypical Initial Presentation of Alpha-1 Antitrypsin Deficiency
Sophia Heiman1,2, Shoshana Greenberger3,4, Efrat Bar-Ilan3,4
1Division of Pediatric Gastroenterology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
None:
Alpha-1 antitrypsin deficiency (A1ATD) is a rare genetic disorder with variable clinical presentations. We report a case of a term infant who presented with recurrent subcutaneous nodules and elevated liver enzymes, ultimately diagnosed with homozygous Z allele variants in the SERPINA1 gene. Histology showed a fibrous reparative process, rather than classic panniculitis, highlighting an atypical presentation. This case underscores the importance of considering A1ATD in the differential diagnosis of neonatal cutaneous lesions.
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