Congenital cervical lung herniation in an infant with arterial tortuosity syndrome

Abstract

Arterial Tortuosity Syndrome (ATS) is a rare inherited connective tissue disorder that is characterized by elongated tortuous large and medium-sized arteries. ATS, as a multi-systemic disease, manifests with skin laxity, joint hypermobility and predisposition to hernia formation. Inguinal and diaphragmatic hernias were reported as the most common types of herniations in children with ATS.

However, no previous reports have documented an association with congenital cervical lung herniation in those children. We present a case of congenital cervical lung herniation in an infant with ATS that was resolved clinically and radiologically at the age of 43 months with conservative management.

1. Introduction

Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive connective tissue disorder that is characterized by elongated tortuous large and medium-sized arteries. ATS, as a multi-systemic disease, manifests with skin laxity, joint hypermobility, and predisposition to hernia formation. Inguinal and diaphragmatic hernias were reported as the most common types of herniations in children with ATS.

However, no previous reports have documented an association with congenital cervical lung herniation in those children.

We present a case of congenital cervical lung herniation in an infant with ATS that was managed conservatively.

2. Case report

The patient is a 2-month-old full term girl who was born after an uneventful pregnancy. Her birth was complicated with meconium-stained liquor. However, she was born vigorous and did not require resuscitation.

The newborn was noted to have tachypnea at 1 hour of age. Hence, she was admitted in neonatal intensive care unit (NICU) for 1 week and was managed as meconium aspiration syndrome with minimal oxygen therapy for the first 24 hours of life and intravenous antibiotics.

At NICU, she was found to be appropriate for gestational age (AGA) but had distinctive features (elongated face with epicanthic folds, saggy cheeks and micrognathia). She had skin hyper-extensibility and joint hypermobility. Echocardiography revealed mildly tortuous great vessels with no obstruction, in addition to tortuous abdominal aorta with no other cardiac defect.

Family history is significant for consanguine parents and a brother with genetically confirmed diagnosis of arterial tortuosity syndrome.

Clinical diagnosis of arterial tortuosity syndrome was made and was later confirmed by genetic testing where the baby was found to have homozygous mutation in c.243C > G p.(Ser81Arg) in the SLC2A10 gene.

Her initial chest X-rays showed a well-defined lucency projecting over the right cardiophrenic recess, which was suggestive of diaphragmatic hernia.

The baby was discharged from NICU in a good general condition, self-ventilating on room air and tolerating oral feeds.

Upon follow-up at 2 months of age in pulmonology clinic, mother reported a right-sided lump in her neck. The mother noticed the swelling intermittently, whenever the baby was crying or straining to pass stool. It disappears completely while sleeping and with quiet breathing. It was painless and not associated with respiratory distress. Its appearance was not preceded by viral illness, trauma, or forceful cough. The mother reported no apnea, cyanosis, hoarseness of voice, vomiting or dysphagia.

Physical examination revealed an infant with no respiratory distress. She had the previously mentioned distinctive features. The mass was around 4 cm in diameter, soft, non-pulsatile, non-tender, and reducible by digital pressure at the right-side base of the neck. It was identified while the baby was crying at the right supraclavicular fossae, and disappeared completely when baby is settled, as depicted in (Fig. 1: A and B, respectively).

Fig. 1.

A: Photo taken from the patient while crying. B: Photo taken from the patient when consoled showing disappearance of the swelling.

Chest X-ray showed an area of hyper-lucency in the right upper zone extending into the right cervical region, (Fig. 2-A). Cervical hernia was confirmed by chest computed tomography angiogram (CTA). Chest CTA revealed herniation of the right upper lobe to base of the neck as well as mosaic appearance and scattered areas of air-trapping involving the right lung apex, posterior right lower lobe, left lower lobe and the lingua (Fig. 2-B, 2-C). The airway appeared tortuous and ran posteriorly to the herniated right upper lobe. The trachea and main bronchi appeared small in anterio-posterior dimension (Fig. 2-D). Additionally, significant elongation of the ascending thoracic aorta with a left high riding aortic arch with markedly tortuous branches were noted (Fig. 3-A). Evaluation of the diaphragms revealed posterior eventration of the right hemi-diaphragm containing the portion of the right lobe of the liver (Fig. 3-B) in addition to small anterior hernias of both hemi-diaphragms.

Fig. 2.

A- Chest X-Ray taken while baby was crying showing the right-sided extension of apex of the lung to the neck representing right-sided cervical lung hernia (Black arrow) along with a well-defined lucency projecting over the right cardio-phrenic recess (diaphragmatic hernia).

B- Computed Tomography Angiogram (CTA) of the chest - Transverse view (Lung window) showing lung tissue posterior to the oropharynx.

C- Coronal view of CTA (Lung window) showing herniation of the right upper lobe into the neck with multiple areas of air trapping throughout the lungs.

D- Three-dimensional reconstruction of airways showing compressed trachea and main bronchi.

Fig. 3.

Computed Tomography Angiogram (CTA) of the chest:

A- Three Dimensional-Reconstruction of thoracic aorta

B- Coronal view of CTA (Mediastinum window) showing bilateral diaphragmatic eventration and small bilateral anterior hernias containing portion of the right lobe of the liver.

Based on clinical and radiological evidence, a diagnosis of congenital cervical lung hernia was made.

The child was later admitted at the age of 4 months due to Rhinovirus bronchiolitis; she required prolonged hospitalization with respiratory support with high flow nasal cannula (HFNC) in the intensive care.

Afterwards, the patient remained well with no major respiratory symptoms. She had no recurrent chest infections. She required no subsequent hospitalizations and had no complications related to her lung hernia at regular follow-up for the following 4 years. The hernia was noted to be less prominent despite coughing. She is growing well with weight increment as shown in (Fig. 4). No surgical intervention was done. Since the patient was doing well, airway evaluation was planned to be done concurrently with diaphragmatic hernia repair at a later stage to avoid reported re-herniation. Follow-up CT chest and abdomen at the age of 43 months revealed bilateral diaphragmatic eventration/hernia with resolution of cervical lung herniation (Fig. 5).

Fig. 4.

Growth chart of the patient according to world health organization (WHO) for girls.

Fig. 5.

A- Computed Tomography Angiogram (CTA) of the chest - Coronal view (Lung window) showing absence of previously demonstrated right cervical lung hernia.

B- Coronal view of CTA (Lung window) showing right diaphragmatic eventration and small anterior hernia containing portion of the right lobe of the liver.

3. Discussion

Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive connective tissue disorder that is caused by mutation in SLC2A10 gene [1,2]. It is characterized by elongated and tortuous large and medium-sized arteries [1,2]. Children with ATS usually present with distinctive facial features, arachnodactyly, hyper-extensible skin, and joint hypermobility [1,2]. As a connective tissue disorder, those children have predisposition to recurrent herniation. Inguinal and diaphragmatic hernias were the most commonly reported hernias in children with ATS [3]. However, in the literature, there were no reported cases of cervical lung herniation in this population.

Herniation of the lung is a rare condition that occurs when lung parenchyma, and its overlying pleura, extends through a defect in the thoracic cavity [4,5]. Lung hernias are classified according to their etiology and location as proposed by Morel-Lavdllae [6]. Based on etiology, they can be either congenital; or acquired (traumatic, consecutive (post-traumatic), spontaneous and pathological). Based on location, they can be either cervical, thoracic, or diaphragmatic lung hernias [6]. However, this classification does not include mediastinal lung hernias.

The majority of reported cases of cervical lung hernias in children are congenital [7]. They can be unilateral or bilateral [4,8]. They can also be isolated or as a part of multiple congenital anomalies as reported by Pallazo [9] in an infant with cleft lip and palate, and by Cunningham in an infant with Cri du Chat syndrome [10]. Familial cervical lung herniation was described in four family members; however, no genetic predisposition was identified [11]. The reported acquired cases of cervical lung hernia were generally attributed to traumatic and spontaneous etiology. Few cases of acquired cervical hernias were reported post initiation of positive pressure ventilation [12].

Children usually present with an intermittent lateral neck swelling that is more prominent with coughing, crying or straining and reduced or disappeared with quiet breathing. Rarely, children can present with intermittent croup and upper airway obstruction, or dysphagia as described by Ryan and Del Ray [13,14]. Resultant upper airway obstruction might also complicate the course of acute asthma attack as reported in an eleven-year-old asthmatic girl [15].

Diagnosis of cervical lung hernias is usually made clinically. Neck and chest x-rays may aid in diagnosis by showing apical lucency extending above clavicle and may cause tracheal deviation [16,17]. These findings may be absent if taken while the child is at rest. Therefore, dynamic radiographs and/or video fluoroscopy are often required to confirm the diagnosis by obtaining the images while the child is performing maneuvers that achieve maximal intra-thoracic pressures [18,19]. Computed tomography (CT) scans of the neck and chest can also be confirmatory.

Complications of cervical lung hernias are rarely reported. However, Seigelman [20] reported a case of cervical lung herniation that is associated with transient obstruction of the right subclavian vein in an adult.

Management of cervical herniation of the lung is usually conservative with close observation. Spontaneous regression over around 4 years was reported [21]. Surgical repair is warranted in complicated cases with incarceration, progressive increase in size, or cosmetic deformities [22].

Surgical management with fascial reinforcement repair is one of the proposed surgical approaches [23]. However, Video-assisted thoracoscopic (VATS) repair of lung hernia was also described [24].

4. Conclusion

We present a rare case of cervical lung hernia in an infant with arterial tortuosity syndrome (ATS). The association between these two rare entities has never been reported. Management in our case was conservative without surgical intervention for the cervical hernia and the congenital diaphragmatic hernia. Our patient remained well and improved with weight gain. The presumed mechanism is related to soft tissue involvement of suprapleural membrane in ATS patients. This case report suggests that children with ATS may require close attention to cervical lung hernias as part of their predisposition to formation of other types of hernias.

CRediT authorship contribution statement

Amal Al-Naimi: Writing – review & editing. Sara G. Hamad: Writing – original draft. Abdalla E. Zarroug: Supervision.

Declaration of competing interest

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Handling Editor: AC Amit Chopra