Congenital Horner and Scimitar syndrome in a newborn: a previously unreported combination
- 1 Paediatrics, Unidade Local de Saude de Matosinhos EPE, Senhora da Hora, Portugal
- 2 Ophthalmology, Unidade Local de Saude de Matosinhos EPE, Senhora da Hora, Portugal
- Correspondence to Dr Joana Carvalho; joana.teixeiracarvalho@gmail.com
Abstract
Here we report a case of a term newborn presenting with left palpebral ptosis, anisocoria and heterochromia as well as cleft palate and heart murmur. Congenital Horner syndrome was suspected and a thoracoabdominal CT scan was performed to rule out neuroblastoma. This revealed an anomalous drainage of right pulmonary veins to a collector that drains to the inferior vena cava, leading to the diagnosis of Scimitar syndrome. Echocardiogram showed an ostium secundum atrial septal defect, enlarged right chambers and a dilated coronary sinus due to a persistent left superior vena cava. The combination of Horner and Scimitar syndrome has never been described before. This case should encourage clinicians to use a multidisciplinary approach in order to guarantee an adequate diagnosis and management.
Background
Horner syndrome is a classic neurologic triad of miosis, ptosis and anhidrosis of the same side. It may be accompanied by heterochromia iridis, if the responsible lesion occurred before the age of 2 years.1–3 It can be produced by a lesion anywhere along the oculosympathetic pathway, between the hypothalamus and the orbit. This syndrome is classified as congenital or acquired. The most common causes of Horner syndrome are birth trauma, vascular malformations (namely, internal carotid arteries abnormalities), neuroblastoma, congenital infections and chest surgery.1 4 5
Scimitar syndrome is a rare congenital cardiovascular anomaly in which part or even the entire right lung is drained by pulmonary veins that connect anomalously to the inferior vena cava.6 7 This venous anomaly creates a curvilinear pattern on a chest radiograph that often has the shape of a scimitar, a type of curved sword, after which this syndrome was named.8 Patients have variable right lung hypoplasia and variable systemic blood supply to part of the right lung. This syndrome has two forms of presentation, the infantile and the childhood/adult form. The infantile form is more associated with congenital heart disease, pulmonary hypertension and a significant mortality, while the childhood/adult form is less severely affected and may be asymptomatic on diagnosis.7 8
We report a case of a newborn with both Horner and Scimitar syndromes, a previously unreported association.
Case presentation
A 31-year-old woman gave birth to a term 3190 g boy by a C-section delivery, without a history of birth trauma with good adaptation to extrauterine life (Apgar score of 9, 10 and 10). The mother was G1/P1 and pregnancy had no complications until the 21st week. Obstetric ultrasound detected a cleft palate and fetal echocardiography revealed a dilated cardiac sinus. Maternal serologic screening was negative.
Physical examination at birth revealed palpebral ptosis and anisocoria (figure 1). Cleft palate and a heart murmur were also present. No further alterations on physical examination were found, including the absence of a cervical mass. He was then referred to ophthalmology appointment in which heterochromia was also noticed. The hypothesis of congenital Horner syndrome was raised, and in order to rule out neuroblastoma and vascular malformations, several examinations were performed.
Left palpebral ptosis, discrete anisocoria and heterochromia (arrow). Note that the child is already 2 years old in this photograph.
Investigations
Blood tests and urinary levels of catecholamines were found within normal range. The karyotype was normal. A CT scan of the head, neck, thorax and abdomen revealed a suspicious anomalous drainage of the right lung to the inferior vena cava, associated with some degree of pulmonary hypoplasia, suggesting Scimitar syndrome. As the radiologist considered that the head and neck images had no sufficient quality, an MRI was also performed and excluded neuroblastoma or carotid abnormalities.
The new diagnosis of Scimitar syndrome was confirmed though a CT angiography that revealed an anomalous drainage of right pulmonary veins to a dilated collector (13 mm), which drains to the suprahepatic segment of the inferior vena cava (figure 2). The examination also showed a small vein draining directly to the left atrium from the medial basal segment of the right lower lobe. The left pulmonary vein drainage is made to the left atrium by a common dilated collector (9 mm).
CT angiography with drainage of right pulmonary veins to a dilated collector (arrow), which drains to the suprahepatic segment of the inferior vena cava; Note that paediatric radiation dose reduction strategies were applied.
Echocardiographic examination showed an ostium secundum atrial septal defect, enlarged right chambers and a dilated coronary sinus due to a persistent left superior vena cava.
Outcome and follow-up
The child remains asymptomatic, with no indication for surgical intervention to the anomalous vein drainage. Currently, the boy is 2 years old and has normal neurodevelopment for his age, with an adequate growth. Cleft palate was surgically corrected in the first month of life. A percutaneous device closure of the atrial septal defect will be performed soon. A multidisciplinary team is following the case.
Discussion
Horner syndrome can be classified in congenital and acquired causes. Congenital cases are frequently caused by birth trauma, congenital infections, neoplasm (mostly neuroblastoma) or carotid abnormalities, such as hypoplasia or agenesis. Acquired cases are sequelae of head, neck and chest surgery, infection or neuroplasm, commonly neuroblastoma.1 4 9 10
In children, the radiological workup of Horner yndrome is particularly controversial, namely the imaging modalities and the extent of anatomical coverage. However, signs and symptoms may provide information about the level of the lesion and can help the investigation. Imaging is paramount in this syndrome assessment as many are associated with malignant process or treatable causes.9 11 12
Chest radiography can be used to exclude mediastinal or apical chest mass lesions with frontal or lateral projections. However, mostly the lung apex opacities can be missed.
MRI of the head, neck and upper chest including T2–T3 vertebrae, commonly with cross-sectional angiography, has good sensitivity, with few radiation exposure, although sedation may be required.9 11 12 However, as MRI is not easily available, other additional diagnostic tests could be used to guide the diagnosis.9
CT scan could be an alternative, mostly in the acute setting (or for patients who cannot undergo MRI). An initial CT scan is suggested, although artefacts can compromise the quality of images at the posterior fossa and has less sensibility to highlight vascular lesions.9 12
Ultrasound of the neck is very limited because of its less sensibility and its operator dependency.12
Regarding other examinations, homovanillic acid and vanillylmandelic acid measurements in urine are used for screening children for catecholamine-secreting tumours such as neuroblastoma.4 9 Neuroblastoma is the most common occult malignancy to be associated with paediatric Horner syndrome.2 4 However, because urine catecholamine studies have been normal in a some patients with neuroblastoma, further investigations are often needed to exclude tumorous lesion.4 9
In this case report, the authors picked a rare clinical condition when they were studying another rare clinical condition, through the radiological workup.
Scimitar syndrome
Scimitar syndrome is an extremely rare disease. Patients can be asymptomatic or mildly symptomatic when the diagnosis is made, depending on the degree of pulmonary hypoplasia and pulmonary artery hypertension. More symptomatic patients may present with dyspneia, tachypneia, respiratory distress, cyanosis, failure to thrive or cardiac failure.6 13
In the chest radiography, the anomalous venous connection causes a curvilinear shadow adjacent to the right heart border. However, further imaging is needed to confirm the diagnosis and demonstrate other associated abnormalities. CT scan and MRI are useful in visualising the anomalous pulmonary vein and associated malformations.6 13 14
This condition can be associated with different cardiac anomalies, namely atrial septal defect (80%), patent ductus arteriosus (75%), ventricular septal defect (30%) and pulmonary vein stenosis (20%).7 8 13 In our case, the echocardiogram revealed an ostium secundum atrial septal defect and a persistent left superior vena cava.
Medical management of scimitar syndrome includes cardiac failure treatment and close monitoring of respiratory infections hat could be recurrent due to right lung hypoplasia. Early surgical intervention may not be needed in patients without pulmonary hypertension. Infants who are symptomatic at an early age probably have pulmonary hypertension or congestive heart failure and require surgical intervention to prevent irreversible pulmonary vascular disease or death.
This case illustrates for the first time, as far as the authors are concerned, an association between these two syndromes (Horner and Scimitar). Further studies are needed, perhaps with supplement genetic testing, in order to establish, or rule out, a conceivable connection between them. A systemic abnormality predisposing to vascular malformations could eventually associate both findings. A high index of suspicion was particularly important, as well as setting a multidisciplinary team, in order to guarantee an adequate diagnosis and management.
Learning points
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Horner syndrome is a classic triad of miosis, ptosis and anhidrosis of the same side, and most common causes are birth trauma, vascular malformations, neuroblastoma, congenital infections and chest surgery.
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Scimitar syndrome is a rare congenital anomaly characterised by partial or complete anomalous pulmonary venous drainage to the inferior vena cava; patients can be asymptomatic or mildly symptomatic, depending on the degree of pulmonary hypoplasia and pulmonary artery hypertension.
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A previously unreported association of both Horner and Scimitar syndrome was picked through the radiological workup, revealing a need for a multidisciplinary approach.
Footnotes
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Contributors JC has made bibliographical search, drafting of the article, critical reviewing of the content of the article and final approval of this version. MM has made bibliographical search, drafting of the article, critical reviewing of the content of the article and final approval of this version. AM has made bibliographical search, critical reviewing of the content of the article and final approval of this version. TM has made bibliographical search, critical reviewing of the content of the article and final approval of this version.
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Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
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Competing interests None declared.
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Patient consent for publication Parental/guardian consent obtained.
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Provenance and peer review Not commissioned; externally peer reviewed.
- © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.
References
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