Congenital pulmonary lymphangiectasia in an extremely low birth weight: a case report
-
Claudia Basti
,
Arianna Mareri
Abstract
Objectives
Congenital pulmonary lymphangiectasia (CPL) is a rare but fatal disorder of the lung.
Case presentation
We describe the case of an extremely low birth weight (ELBW) infant who presented with severe respiratory distress and recurrent bilateral pneumothorax. He died on day 17. The post-mortem examination of the lungs showed numerous cystic spaces, ranging from 1 to 2 mm in size, in the visceral pleura, in the thickened interlobular septum and hilum. A diagnosis of primary CPL was made.
Conclusions
We intend to underline that CPL, albeit rare, must be one of the differential diagnoses in infants with severe neonatal respiratory distress not responding to intensive care. Chronic interstitial lung diseases are a challenging diagnostic clinical problem, which requires a multidisciplinary approach. Histological lung examination may be useful to demonstrate the presence of CPL.
Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Research involving human subjects complied with all relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration (as revised in 2013), and has been approved by the authors’ Institutional Review Board.
References
1. Esther, CRJr, Barker, PM. Pulmonary lymphangiectasia:diagnosis and clinical course. Pediatr Pulmonol 2004;38:308–13. https://doi.org/10.1002/ppul.20100.Suche in Google Scholar
2. Gupta, K, Das, A, Menon, P, Kakkar, N, Rao, KL, Joshi, K. Revisiting the histopathologic spectrum of congenital pulmonary developmental disorders. Fetal Pediatr Pathol 2012;31:74–86. https://doi.org/10.3109/15513815.2011.650287.Suche in Google Scholar
3. Barker, PM, Esther, CRJr, Fordham, LA, Maygarden, SJ, Funkhouser, WK. Primary pulmonary lymphangiectasia in infancy and childhood. Eur Respir J 2004;24:413–9. https://doi.org/10.1183/09031936.04.00014004.Suche in Google Scholar
4. Martínez García, JJ, Morín Hernández, M, Martínez Félix, A, Peña Martínez, E, León Sicairos, NM, Canizalez Román, A. Unilateral congenital pulmonary lymphangiectasia in a preterm infant. Rev Chil Pediatr 2018;89:516–20 https://doi.org/10.4067/S0370-41062018005000605.Suche in Google Scholar
5. Limbach, HG, Hasenfus, A, Bohle, RM, Baghai, A, Löffler, G, Gortner, L, et al. Severe respiratory distress syndrome unresponsive to intensive care treatment–diagnostic and therapeutic considerations. Klin Padiatr 2011;223:283–6. https://doi.org/10.1055/s-0030-1270485.Suche in Google Scholar
6. Jacquemont, SE, Barbarot, SE, Bocéno, MI, Stalder, JF, David, AL. Familial congenital pulmonary lymphangiectasia, non-immune hydrops fetalis, facial and lower limb lymphedema: confirmation of Njolstad’s report. Am J Med Genet 2000;93:264–8. https://doi.org/10.1002/1096-8628(20000814)93:4<264::aid-ajmg2>3.0.co;2-5.10.1002/1096-8628(20000814)93:4<264::AID-AJMG2>3.0.CO;2-5Suche in Google Scholar
7. Moore, KL, Persaud, TVN. The developing human: clinically oriented embryology. 7th ed. Saunders; 2003.Suche in Google Scholar
8. Zawieja, D. Lymphatic biology and the microcirculation: past, present and future. Microcirculation 2005;12:141–50. https://doi.org/10.1080/10739680590900003.Suche in Google Scholar
9. Stump, B, Cui, Y, Kidambi, P, Lamattina, A, El-Chemaly, S. Lymphatic changes in respiratory diseases: more than just remodeling of the lung?. Am J Respir Cell Mol Biol 2017;57:272–9. https://doi.org/10.1165/rcmb.2016-0290tr.Suche in Google Scholar
10. Scott, C, Wallis, C, Dinwiddie, R, Owens, C, Coren, M. Primary pulmonary lymphangiectasis in a premature infant: resolution following intensive care. Pediatr Pulmonol 2003;35:405–6. https://doi.org/10.1002/ppul.10241.Suche in Google Scholar
11. Bellini, C, Mazzella, M, Arioni, C, Campisi, C, Taddei, G, Toma, P, et al. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. Am J Med Genet 2003;120:192–6. https://doi.org/10.1002/ajmg.a.20180.Suche in Google Scholar
12. Yamada, S, Hisaoka, M, Hamada, T, Araki, S,Shiraishi, M. Congenital pulmonary lymphangiectasis: report of an autopsy case masquerading as pulmonary interstitial emphysema. Pathol Res Pract 15 July 2010;206:522–6. https://doi.org/10.1016/j.prp.2010.02.007.Suche in Google Scholar PubMed
13. Demir, OF, Hangul, M, Kose, M. Congenital lobar emphysema: diagnosis and treatment options. Int J Chron Obstruct Pulmon Dis 2019;14:921–8. https://doi.org/10.2147/copd.s170581.Suche in Google Scholar
14. Brown, M, Pysher, T, Coffin, CM. Lymphangioma and congenital pulmonary lymphangiectasis: a histologic, immunohistochemical, and clinicopathologic comparison. Mod Pathol 1999;12:569–75. PMID 10392631.Suche in Google Scholar
15. Spencer, D. Rare single system diseases. Paediatr Respir Rev 2001;2:63–9. https://doi.org/10.1053/prrv.2000.0103.Suche in Google Scholar PubMed
© 2020 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Case Reports – Obstetrics
- Fetal pulmonary choristoma: report of first case and literature review
- Ultrasound prenatal diagnosis of a de novo 14q distal duplication associated with foetal anomalies: a case report
- Prenatal diagnosis of Kleefstra syndrome
- Cardiac implant and the risk of infective endocarditis in pregnancy
- Iatrogenic fetal goiter. Conservative management and spontaneous resolution
- Management in cases of large uterine myomas in pregnancy
- Significantly enlarged varix in the free-loop of the umbilical cord during the second trimester
- A case report of co-infection with rhinovirus and SARS-CoV-2 in pregnancy
- Monoamniotic twins pregnancy complicated by a fetal congenital heart defect – a challenge for perinatal decisions
- Favorable outcome after nine minutes of shoulder dystocia preceded by a tight nuchal cord
- Circumvallate placenta and abnormal cord insertion as risk factors for intrauterine growth restriction and preterm birth: a case report
- A rare case of intra-uterine blood transfusion for fetal anemia caused by a giant placental chorioangioma
- Septated fetal bladder in a case of 2q13 deletion
- A case of prenatal diagnosis of single umbilical artery due to thrombosis diagnosed by the ultrasound finding of “wink-sign”
- Ultrasound diagnosis of myelomeningocele: the role of 3D ultrasonography in determining surficial status of the pathological lesion
- Pragmatic approach and variations in the management of pregnant women with type 1 diabetes mellitus on insulin pump: a case series
- A great pre-eclampsia masquerader. Hemophagocytic lymphohistiocytosis (HLH) presenting in pregnancy
- Survival of both twins in a pregnancy complicated by pre-viable cord prolapse at 21 weeks of gestation
- A case report of a pregnant woman diagnosed with intrahepatic cholangiocarcinoma (ICC) complicated by opioid tolerance
- Prenatal and postnatal imaging of an intrapericardial teratoma
- Case report of a ruptured uterine sacculation in the 19th week of pregnancy
- Is thromboelastography reliable in postpartum coagulopathies? Two case reports and a literature review
- Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome
- Fetal head entrapment within the lower uterine segment
- Case Reports – Fetus
- A case of diprosopus: a rare form of twinning radiology-pathology correlation
- Case Reports – Newborn
- Transmission of SARS-CoV-2 to premature twins from an asymptomatic mother
- Spinal dysraphism, club feet, and dextrocardia with situs inversus totalis in a neonate: a rare association and review
- Giant congenital vascular malformation: diagnostic approach and clinical course
- Transient neonatal myasthenia gravis following maternal myasthenia gravis presenting in pregnancy after treatment with Alemtuzumab
- Congenital pulmonary lymphangiectasia in an extremely low birth weight: a case report
- Congenital kaposiform hemangioendothelioma: don’t let the appearances fool you
- Agnathia-otocephaly complex: a case report and a literature review on recurrence risk
- Perinatal severe hypophosphatasia: a case report
- Recurrent neonatal group B streptococcus cellulitis and adenitis syndrome with late-onset sepsis
- Neonatal hypertension caused by left-to-right shunt flow through a patent ductus arteriosus in a premature infant
- Maternal Babesia infection associated with neonatal extramedullary hematopoiesis and acute myeloid leukemia in late infancy
- Congenital high airway obstruction syndrome complicated with foregut malformation and high airway fistula to the alimentary tract – a case series with four distinct types
- Aplasia cutis congenita as a consequence of fetal reduction in a triplet pregnancy
- Anhydramnios, but prenatally normal kidneys: renal tubular dysgenesis – patient with mutations in the renin-angiotensin system gene AGTR1
- Symptomatic and lethal congenital primary cardiac rhabdomyoma
Artikel in diesem Heft
- Case Reports – Obstetrics
- Fetal pulmonary choristoma: report of first case and literature review
- Ultrasound prenatal diagnosis of a de novo 14q distal duplication associated with foetal anomalies: a case report
- Prenatal diagnosis of Kleefstra syndrome
- Cardiac implant and the risk of infective endocarditis in pregnancy
- Iatrogenic fetal goiter. Conservative management and spontaneous resolution
- Management in cases of large uterine myomas in pregnancy
- Significantly enlarged varix in the free-loop of the umbilical cord during the second trimester
- A case report of co-infection with rhinovirus and SARS-CoV-2 in pregnancy
- Monoamniotic twins pregnancy complicated by a fetal congenital heart defect – a challenge for perinatal decisions
- Favorable outcome after nine minutes of shoulder dystocia preceded by a tight nuchal cord
- Circumvallate placenta and abnormal cord insertion as risk factors for intrauterine growth restriction and preterm birth: a case report
- A rare case of intra-uterine blood transfusion for fetal anemia caused by a giant placental chorioangioma
- Septated fetal bladder in a case of 2q13 deletion
- A case of prenatal diagnosis of single umbilical artery due to thrombosis diagnosed by the ultrasound finding of “wink-sign”
- Ultrasound diagnosis of myelomeningocele: the role of 3D ultrasonography in determining surficial status of the pathological lesion
- Pragmatic approach and variations in the management of pregnant women with type 1 diabetes mellitus on insulin pump: a case series
- A great pre-eclampsia masquerader. Hemophagocytic lymphohistiocytosis (HLH) presenting in pregnancy
- Survival of both twins in a pregnancy complicated by pre-viable cord prolapse at 21 weeks of gestation
- A case report of a pregnant woman diagnosed with intrahepatic cholangiocarcinoma (ICC) complicated by opioid tolerance
- Prenatal and postnatal imaging of an intrapericardial teratoma
- Case report of a ruptured uterine sacculation in the 19th week of pregnancy
- Is thromboelastography reliable in postpartum coagulopathies? Two case reports and a literature review
- Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome
- Fetal head entrapment within the lower uterine segment
- Case Reports – Fetus
- A case of diprosopus: a rare form of twinning radiology-pathology correlation
- Case Reports – Newborn
- Transmission of SARS-CoV-2 to premature twins from an asymptomatic mother
- Spinal dysraphism, club feet, and dextrocardia with situs inversus totalis in a neonate: a rare association and review
- Giant congenital vascular malformation: diagnostic approach and clinical course
- Transient neonatal myasthenia gravis following maternal myasthenia gravis presenting in pregnancy after treatment with Alemtuzumab
- Congenital pulmonary lymphangiectasia in an extremely low birth weight: a case report
- Congenital kaposiform hemangioendothelioma: don’t let the appearances fool you
- Agnathia-otocephaly complex: a case report and a literature review on recurrence risk
- Perinatal severe hypophosphatasia: a case report
- Recurrent neonatal group B streptococcus cellulitis and adenitis syndrome with late-onset sepsis
- Neonatal hypertension caused by left-to-right shunt flow through a patent ductus arteriosus in a premature infant
- Maternal Babesia infection associated with neonatal extramedullary hematopoiesis and acute myeloid leukemia in late infancy
- Congenital high airway obstruction syndrome complicated with foregut malformation and high airway fistula to the alimentary tract – a case series with four distinct types
- Aplasia cutis congenita as a consequence of fetal reduction in a triplet pregnancy
- Anhydramnios, but prenatally normal kidneys: renal tubular dysgenesis – patient with mutations in the renin-angiotensin system gene AGTR1
- Symptomatic and lethal congenital primary cardiac rhabdomyoma
