Jarcho–Levin syndrome: A rare case of thoracic insufficiency syndrome in a newborn

Nishant Prabhakar; Brijesh Patel

doi:10.4103/ipcares.ipcares_67_23

CASE REPORT

Year : 2023 | Volume : 3 | Issue : 3 | Page : 171-173

Jarcho–Levin syndrome: A rare case of thoracic insufficiency syndrome in a newborn

Nishant Prabhakar, Brijesh Patel
Department of Pediatrics, Birsa Munda Government Medical College, Shahdol, Madhya Pradesh, India

Date of Submission	25-Mar-2023
Date of Decision	03-Jul-2023
Date of Acceptance	05-Jul-2023
Date of Web Publication	14-Aug-2023

Correspondence Address:
Dr. Nishant Prabhakar
C-205 Swastik Galaxy Apartment, New Bus Stand Road, Shahdol, Madhya Pradesh
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_67_23

Abstract

Background: Jarcho–Levin syndrome (JLS) is a rare, congenital skeletal disorder involving the spine and the ribs, resulting in varying degrees of thoracic insufficiency, presenting at birth. We report such a case in a tribal population in India. Clinical Description: A newborn baby was referred on the 2^nd day of life with respiratory distress and abnormal thoracic anatomy. Radiographs of the chest showed anomalies of the spine and ribs and decreased lung volume, the features being consistent with JLS (spondylocostal dysostosis). Management: The baby was provided respiratory support initially with continuous positive airway pressure and then shifted to oxygen by nasal prongs by 7 days of life. Ultrasound cranium and abdomen did not reveal any other associated anomalies and routine blood investigations were within normal limits. Respiratory distress settled and the baby was finally discharged successfully on the 12^th day, on breastfeeds. Conclusion: Respiratory distress in a newborn, soon after birth, may be due to thoracic insufficiency. The case creates awareness among pediatricians and neonatologists regarding this rare disorder which can be identified by specific vertebral and rib abnormalities. Survival depends on the severity of the bony abnormality and compromise in lung volume.

Keywords: Respiratory distress, spondylocostal dysostosis, scoliosis

How to cite this article:
Prabhakar N, Patel B. Jarcho–Levin syndrome: A rare case of thoracic insufficiency syndrome in a newborn. Indian Pediatr Case Rep 2023;3:171-3

How to cite this URL:
Prabhakar N, Patel B. Jarcho–Levin syndrome: A rare case of thoracic insufficiency syndrome in a newborn. Indian Pediatr Case Rep [serial online] 2023 [cited 2023 Sep 30];3:171-3. Available from: http://www.ipcares.org/text.asp?2023/3/3/171/383631

Newborns developing respiratory distress soon after birth may occasionally be suffering from thoracic wall deformities resulting in thoracic insufficiency syndrome. Deformities in the spine can cause distortion of the rib cage, resulting in varying degrees of restrictive ventilation. Jarcho–Levin syndrome (JLS) or spondylothoracic dysostosis (STD) is a rare congenital thoracic dysplasia characterized by spinal abnormality involving multiple vertebral defects and rib cage abnormalities. The spinal and rib malformations result in a small thoracic cavity, not capable of accommodating the growing lungs, causing thoracic insufficiency.^[1]

We describe a newborn with this rare disorder, who, despite presenting with respiratory distress and cyanosis soon after birth, was rescued by resuscitation and survived.

Clinical Description

A newborn baby boy was referred to our tertiary care center on the 2^nd day of life in view of respiratory distress. The baby was born out of nonconsanguineous marriage, to a 24-year-old G2P1L1A1 mother, through vaginal route, at 36 weeks of gestation, with birth weight of 1.99 kg. The baby had cried immediately after birth with an APGAR score of 6 at 1 min. However, by 8 hours of life, he developed progressive bluish discoloration of fingers, with fast breathing and chest in-drawing.

The mother was a booked case with an uneventful antenatal period. There was no history of exposure to any teratogens (radiation, alcohol, smoking, and drugs). Mother received supplements (iron, folic acid, and calcium) from the second trimester onwards, and had been immunized with two injections of tetanus toxoid. She had undergone an antenatal ultrasound scan twice, which had revealed normal findings. The newborn was the first child of the parents who was born alive. There was no family history of dwarfism, scoliosis, or any other congenital bony defect.

On examination, the weight of the baby was 1.2 kg (<3^rd centile), length 49 cm (at 90^th centile), and head circumference 35 cm (at 90^th centile). The upper to lower-segment ratio was 1.3. The baby was normothermic (temperature 37° centigrade). There was respiratory distress in the form of chest in-drawing, intercostal retractions, and nasal flaring, with a respiratory rate of 48/min. The baby had obvious central cyanosis with a SpO₂ of 82% in room air. His heart rate was 144/min, with normal pulses. Inspection of the thorax revealed that the chest was short and asymmetrical, with the back suggestive of thoracic scoliosis. No other defects were noted clinically and the rest of the systemic examination was within normal limits.

Management and Outcome

The newborn was immediately shifted to the neonatal intensive care unit and put on respiratory support with oxygen through continuous positive airway pressure at peak end-expiratory pressure of 6 and FiO₂ of 90%. The child was maintained on intravenous fluids and ampicillin and gentamycin.

Once stabilized, a set of baseline investigations was advised. The complete blood count, liver function tests, renal function tests, and serum electrolytes are shown in [Table 1].

Table 1: Results of routine blood investigations done in the newborn after hospitalization

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A thoracoabdominal radiograph was done which showed costovertebral changes, with decreased lung volume. There were segmentation anomalies in the lower dorsal spine resulting in scoliosis, absence of the 7^th rib and fusion of the 8^th and 9^th rib with deformed and bifid 6^th rib on the left side [Figure 1]. Lung hypoplasia was noted in the left lower lobe, with normal pleural space. The contour of the heart was normal but shifted towards the right side. Cranial and abdominal ultrasound were normal. Echocardiography could not be done due to unavailability.

Figure 1: Chest and abdomen radiograph AP (a) and lateral views (b) show multiple rib anomalies seen as crab-like or fan-like radiation of ribs on the left side. There is a fusion of the left 8th, 9th rib with bifid 8th rib. The left 6^th rib also appears bifid with absent 7th rib. Associated vertebral segmentation anomalies are seen in the lower dorsal spine.. AP: Anteroposterior

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Based on the clinical presentation, investigations, and radiological imaging, the respiratory distress was attributed to hypoplastic lungs, due to thoracic deformity, consistent with a diagnosis of JLS.

Over the course of the next 48 hours, the respiratory distress settled, and the baby was shifted to oxygen with nasal prongs, from which the child was gradually weaned off, over the next 7 days and started on oral feeds. The parents were counseled regarding the prognosis of the disease including recurrent infections, growth failure, especially of short stature, as well as the possibility of re-appearance of the condition in future pregnancies. The family could not afford genetic testing. The baby was discharged with advice to return for regular follow-up.

The baby was seen at 1 month of age and found to have retractions present on the left subcostal region, though maintaining normal SpO₂. The baby was accepting breastfeeds well and had achieved partial neck holding also. On surgical reference, conservative management was advised.

Discussion

The morphological features of the neonate described above, are consistent with JLS, a rare, congenital, skeletal disorder involving the spine and the ribs.

The disorder typically presents with short-neck, short-trunk, normal-sized limbs, with multiple vertebral anomalies at all levels of the vertebral column along with costal defects. It was first described by Jarcho and Levin in 1938.^[2],[3],[4] The broad group of JLS is subdivided into two major clinical subtypes STD and spondylocostal dysostosis (SCD).^[5] The differentiating features between STD and SCD are shown in [Table 2]. The typical small malformed “fan-like” or “crab-like” rib cage is due to posterior fusion and anterior flaring of the ribs. Our case showed deformities in vertebra and ribs unilaterally with fan-like malformed ribs, thus being consistent with SCD.

Table 2: Differentiating features between spondylocostal dysostosis from spondylothoracic dysostosis

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Other anomalies associated with JLS include inguinal and umbilical hernias, neural tube defects, minor facial dysmorphism, anomalies of the digit and the lower limbs, urogenital and anal malformations, and complex congenital heart disease.^{[5],[6],[7],[8],[9]} Cases with mild midfacial dysmorphism, low-set ears, and a high-arched palate have also been reported.^[10]

The precise genetic basis of JLS is not clear, but it has been attributed to mutation in one of at least five different genes specifically DLL3, MESP2, LFNG, HFS7, and TBX 6,^{[11],[12],[13]} the most common being the DLL3 gene mapped to the 19g13.1-g13.3 region. Milder forms of the mutations have been reported in the MESP2 gene.^[11] Both autosomal recessive and autosomal dominant modes of inheritance have been reported.

The abnormal vertebral segmentation and posterior costal fusion, results in a restrictive breathing pattern, ranging from mild distress to respiratory failure with uncompensated respiratory acidosis. There are two types of SCD. The severe form SCD 1, with an autosomal recessive inheritance, which can be diagnosed in utero, usually die due to respiratory failure. The SCD type 2, which is autosomal dominant, is milder, cannot be diagnosed in utero, is compatible with life.^[14] The severe form can be suspected on antenatal fetal ultrasound at 16 weeks as an irregular short “pebble-like” spine with poorly formed vertebrae, normal amniotic fluid, standard limb length, and biparietal diameter.^[10]

The management of JLS requires collaborative efforts from pediatric, orthopedic, and thoracic surgeons. Although modern technologies have improved the survival of infants with JLS, however, those who survive beyond childhood have progressive scoliosis, neurological dysfunction, and paraplegia secondary to spinal cord compression.

Parents should be counseled, regarding the course and prognosis of the disease. Genetic counseling for future pregnancies should include information regarding prenatal diagnosis, termination of pregnancies, and the option of adoption.

To conclude, pediatricians encountering a newborn with an abnormal thoracic shape should keep in mind this rare condition of JLS, which can be identified by specific deformities of the spine and ribs. Not all cases are fatal, the prognosis depends on the underlying lung hypoplasia and/or restrictive lung disease. Genetic evaluation should be offered to parents who plan future pregnancies.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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