Unilateral Pulmonary Hypoplasia Research Articles

Case Report: Unilateral Pulmonary Hypoplasia Presenting as Reccurent Pulmonary Infection

Case Report: Unilateral Pulmonary Hypoplasia Presenting as Reccurent Pulmonary Infection

A Rare Etiology of Unilateral Pseudo-Pulmonary Fibrosis in a Puerto Rican Child

Congenital unilateral pulmonary hypoplasia of a pulmonary artery is considered a rare congenital anomaly in the pediatric and adult population. With an estimated prevalence of one in 200,000, it can range from partial to near-total lung underdevelopment. The diagnosis of lung and pulmonary artery hypoplasia is challenging in adults as they can easily be mistaken for more common diseases. Many survive into adulthood with minimal or no symptoms, which makes their identification challenging. We present the case of a 14-year-old female with a previous diagnosis of 3-methylglutaconic aciduria (3-MGA-uria) with a history of chronic wet cough andrecurrent respiratory tract infections (RTIs) that led to multiple hospitalizations throughout her childhood. After further evaluation, the patient was diagnosed with hypoplasia of the right-sided pulmonary artery system and its branches. This case report highlights the importance of early identification of congenital unilateral pulmonary hypoplasia of a pulmonary artery to prevent pulmonary complications like recurrent RTIs in pediatric patients with rare diseases.

Congenital isolated unilateral hypoplasia of the left pulmonary artery: A rare incidental anomaly in an elderly female.

Congenital isolated unilateral hypoplasia of the pulmonary artery (CIUPAH) can have late presentation in the adulthood, mostly diagnosed incidentally, as in our case. They may have symptoms such as exertional dyspnea, recurrent lung infections, and hemoptysis. Although the surgical management is a definitive treatment modality, it depends on the presence of reversible pulmonary hypertension and size of the pulmonary arteries; interventional and medical management can be attempted as a palliative therapy in cases where definitive surgical management is not feasible. We have discussed a rare case of isolated unilateral pulmonary artery hypoplasia which is a congenital anomaly of the lung vasculature without associated congenital heart disease manifested in adulthood.

PULMONARY HYPOPLASIA SECONDARY TO PULMONARY ARTERY STENOSIS: SURGICAL FIX FOR RECURRENT PNEUMONIA?

SESSION TITLE: Global Case Report Posters SESSION TYPE: Global Case Reports PRESENTED ON: October 18-21, 2020 INTRODUCTION: Introduction Congenital bronchopulmonary vascular malformations include a wide spectrum of disorders that compromise one or more of the three main systems of the lung (lung parenchyma, arteries and veins). The stage of gestation where disruption of the pulmonary vessels occurs determines the severity of lung affectation and alveolarization, ranging for segmentary affectation or the complete pulmonary hypoplasia. We present a case of primary pulmonary hypoplasia secondary to pulmonary artery stenosis. CASE PRESENTATION: A 11-year-old boy with history of recurrent pneumonia is evaluated in clinic. He was first admitted to the intensive care unit at age 40 months for pneumonia. Since then, he has had multiple admissions for recurrent pulmonary infections and wheezing treated with beta agonists. His chest x-ray revealed a marked decrease in volume in the right lung, with ipsilateral mediastinal shift. Computerized tomography angiography showed generalized bronchiectasis, main bronchus and pulmonary artery hypoplasia in the right side, with a significant reduction in lung volume. The left lung was hyperinflated and had compensatory emphysema. Scintigraphy revealed a total absence of perfusion in the right lung. Right heart catheterism was consistent with pulmonary artery stenosis. Patient underwent right pneumonectomy. He developed pneumonia and hydrothorax in the postoperative period, and was treated conservatively with antibiotics and incentive spirometer use. Repeat imaging showed a decrease in pleural effusion size. He had clinical improvement and he was discharged home with ambulatory follow up. DISCUSSION: Pulmonary hypoplasia is frequently associated with other malformation, including abnormalities of the thoracic cavity, masses and amniotic fluid disorders. When severe, it is generally diagnosed prenatally or shortly after birth. It can also be associated with congenital heart defects and in rare cases, no cause can be found. The severity of symptoms and their time of occurrence is defined by the degree of hypoplasia present in the patient. There have been reports of diagnosis in adulthood, presenting with recurrent respiratory infections. Clinical exam can show a shorter hemitorax of the affected side, intercostal spaces or diminished breath sounds. Imaging studies like CT can aid diagnosis, showing deviation of the mediastinum to the affected side, thinner vasculature and enlarg. CONCLUSIONS: Pulmonary hypoplasia secondary to pulmonary artery stenosis might present as recurrent respiratory infections and hospitalization. In cases with severe hypoplasia where lung function is severely compromised, pneumonectomy can be considered. Reference #1: Katayama Y, Kusagawa H, Komada T, Shomura S, Tenpaku H. Bronchopulmonary foregut malformation. Gen Thorac Cardiovasc Surg. 2011;59(11):767-770. doi:10.1007/s11748-010-0763-z Reference #2: Abrams, M., Ackerman, V. & Engle, W. Primary Unilateral Pulmonary Hypoplasia: Neonate through Early Childhood — Case Report, Radiographic Diagnosis and Review of the Literature. J Perinatol 24, 667–670 (2004). https://doi.org/10.1038/sj.jp.7211156 Reference #3: Papadopoulos D, Misthos P, Chorti M, et al. Unilateral pulmonary hypoplasia in an adult patient. Monaldi Arch Chest Dis. 2018;88(1):829. Published 2018 Jan 29. doi:10.4081/monaldi.2018.829 DISCLOSURES: No relevant relationships by Amarilys Alarcon-Calderon, source=Web Response No relevant relationships by ISMAR LOPEZ MURALLES, source=Web Response No relevant relationships by LUIS PEREZ MANCILLA, source=Web Response No relevant relationships by Shubert Iván Quiñónez Najera, source=Web Response

Left Lung and Pulmonary Artery Hypoplasia: A Rare Case of Hemoptysis.

Pulmonary hypoplasia or agenesis is a rare congenital disorder that results in lung underdevelopment. This disease is usually found in children but rarely encountered in adults. We describe the case of an 84-year-old woman diagnosed with a unilateral pulmonary hypoplasia presenting simultaneously with left pulmonary artery hypoplasia. Due to this condition, the patient had a lifelong history of pulmonary infections that resulted in several bronchiectases in the affected lung. Moreover, the pulmonary artery hypoplasia led to the development of pulmonary hypertension and collateral circulation causing hemoptysis, giving rise to the patient attending the emergency department. Although we were able to medically manage the hemoptysis, it can be fatal and require surgical intervention. Hence, an early diagnosis is essential so that appropriate follow-up and prompt prevention and treatment of complications, such as pulmonary infections, hemoptysis and pulmonary hypertension, are achieved.LEARNING POINTSAlthough rare and typically associated with childhood, lung and pulmonary artery hypoplasia can in exceptional cases be present in adult life.The diagnosis of lung and pulmonary artery hypoplasia is challenging in adults as they can easily be mistaken for more common diseases.Symptoms and complications may be life-threatening, including dyspnea, hemoptysis, recurrent pulmonary infections and pulmonary hypertension.An early diagnosis is extremely important because it allows a close follow-up with consequent timely detection and treatment of serious complications, especially pulmonary hypertension.

NOT JUST FOR THE KIDS: A CASE OF PULMONARY HYPOPLASIA DIAGNOSED IN ADULTHOOD

SESSION TITLE: Tuesday Fellows Case Report Posters SESSION TYPE: Fellow Case Report Posters PRESENTED ON: 10/22/2019 01:00 PM - 02:00 PM INTRODUCTION: Pulmonary hypoplasia is a developmental abnormality characterized by variable maldevelopment of the bronchial tree, pulmonary parenchyma, and supporting structures. It is a clinically relevant cause of respiratory failure and mortality in newborns and infants but a rare diagnosis in adulthood. CASE PRESENTATION: A 49-year old woman with a past medical history significant for pulmonary tuberculosis (TB) presented to the Emergency Department (ED), sent in for an abnormal chest x-ray (CXR). The patient had seen her primary care physician for sinus congestion, malaise, dyspnea and cough. She had an uncomplicated birth, no frequent childhood illnesses, but did have frequent episodes of bronchitis as an adult. She had been treated for non-cavitary TB 15 years ago with a four-drug regimen. An outpatient CXR revealed a near complete opacification of the left hemithorax, mediastinal shift to the left, and a hyperinflated right lung. There were absent breath sounds in the left lung except for at the left apex. CT scan showed severe hypoplasia of the left lung, a thickened but narrowed left mainstem bronchus, and opacification of the left lower lobe bronchi. Pulmonary function tests were normal. Fiberoptic bronchoscopy revealed severe narrowing of the left mainstem bronchus with a hypoplastic left upper and lower lobe bronchus too narrow for direct visualization. Administration of saline was highly suggestive of early termination of both bronchi. Cytology, pathology, cultures, including Acid Fast Bacilli smears, were negative. The patient was ultimately diagnosed with unilateral pulmonary hypoplasia and discharged with close outpatient follow up. DISCUSSION: Pulmonary hypoplasia is an important cause of respiratory failure in neonates and children associated with other fetal abnormalities, but some adults remain asymptomatic due to compensatory hypertrophy of the contralateral lung. Depending on the degree of lung development, a chest x-ray will often show a completely opacified hemithorax, an ipsilateral shift of the mediastinum, and hyperinflation of the contralateral lung. For a definitive diagnosis, CT scan is the preferred modality; however, in some instances, bronchoscopy may be helpful to rule out sizeable endobronchial lesions with severe atelectasis, which may mimic pulmonary hypoplasia. These patients are at a higher risk of developing pneumothoraces, pulmonary hypertension, and frequent, more serious respiratory infections due to underdeveloped alveolar tissue and decreased mucociliary clearance and surfactant. CONCLUSIONS: Pulmonary hypoplasia should be on the differential for any patients presenting with opacification of hemithorax on CXR. A CT scan, a ventilation-perfusion scan, and bronchoscopy are modalities often used to establish the diagnosis. Reference #1: Katsenos, S., Antonogiannaki, E., & Tsintiris, K. (2013). Unilateral Primary Lung Hypoplasia Diagnosed in Adulthood. Respiratory Care, 5 Reference #2: Georgescu, A., Nuta, C., & Bondari, S. (2011). 3D Imaging in Unilateral Primary Pulmonary Hypoplasia in an Adult: A Case Report. Case Reports in Radiology, 2011, 1-6. https://doi.org/10.1155/2011/659586 Reference #3: Kurkcuoglu, I. C., Eroglu, A., Karaoglanoglu, N., & Polat, P. (2005). Pulmonary Hypoplasia in a 52-Year-Old Woman. The Annals of Thoracic Surgery, 79(2), 689-691. https://doi.org/10.1016/j.athoracsur.2003.09.122 DISCLOSURES: stock relationship with Pfizer Please note: $1001 - $5000 Added 03/11/2019 by Zubair Hasan, source=Web Response, value=stock stock relationship with Stryker Please note: $1001 - $5000 Added 03/11/2019 by Zubair Hasan, source=Web Response, value=stock stock relationship with United Health Group Please note: $1001 - $5000 Added 03/11/2019 by Zubair Hasan, source=Web Response, value=stock No relevant relationships by Sameer Khanijo, source=Web Response No relevant relationships by Dae Hyeon Kim, source=Web Response

Intermediate-Term Outcomes of Slide Tracheoplasty in Pediatric Patients With Ring-Sling Complex

This study was intended to determine the intermediate-term outcomes after slide tracheoplasty (STP) in patients with ring-sling complex. All children undergoing STP between 2009 and 2018 were included. The patients' baseline characteristics, perioperative management details, and follow-up evaluations were reviewed retrospectively. Median age was 1.2 years (range, 2 months to 9.2 years). Seventy-eight patients had additional cardiovascular anomalies and 7 had unilateral pulmonary hypoplasia. Carina involved in the stenotic lesion was present in 42 patients and carinal compression occurred in 58. Twenty-five (21.6%) patients had a stenosis extending into the main bronchus. Type 2, typically having aberrant tracheobronchial patterns, accounted for nearly two-thirds of the patients according to Wells' classification. There were 7 in-hospital deaths and 8 late deaths. Median follow-up was 2.1 years (range, 1.2 months to 9.2 years). Type 2B patients had a higher incidence of malacia and restenosis. In multivariate analysis, the additional cardiovascular anomaly was significantly associated with postoperative tracheomalacia (P= .037). Carinal stenosis (P = .034) was significantly associated with recurrent stenosis. Bronchial stenosis with concomitant carinal stenosis and compression was significantly associated with postoperative tracheomalacia, restenosis, and mortality (for all comparisons, P < .001). Intermediate outcomes of STP in patients with ring-sling complex is satisfactory. Type 2B is a heterogenous subset patients with more severe tracheobronchial anomalies who will benefit from recognition preoperatively and close surveillance postoperatively.

Unilateral Pulmonary Hypoplasia in an Adult Nigerian: A Case Report and Literature Review

Unilateral Pulmonary Hypoplasia in an Adult Nigerian: A Case Report and Literature Review

DOZ047.106: Internal stents and external splints for complex airway obstruction

Abstract Background Life-threatening airway obstruction due to severe tracheobronchial stenosis or tracheobronchomalacia not amenable to tracheobronchopexy or resection is still a challenge, and warrants aggressive innovative strategies. In this study, our experience with placement of balloon-expandable stents and/or external bioabsorbable splints in children with severe tracheobronchial obstruction was reviewed. Methods All patients with symptomatic severe airway obstruction who underwent interaluminal stent and/or external splint placement (1997–2019) were retrospectively reviewed. The data collected included age, type of obstruction (stenosis or malacia), associated malformations, technical and clinical success, complications, and outcomes. Airway stents were placed under fluoroscopic guidance. Bioabsorbable splints (RapidSorb, Synthes CMF) were custom molded and then secured externally on the collapsing areas under simultaneous bronchoscopic and direct visualization. Results Seventeen patients underwent 14 airway stents (trachea = 5, bronchi = 9) and/or 11 external bioabsorbable splints (trachea = 5, bronchi = 6) at a median age of 5 months (IQR 3–9 months). Fourteen stents were placed in 8 patients, 10 external splints in 8 patients; one patient had two stents and one splint. Indications for stenting were stenotic airways in 11 patients (postoperative = 7, congenital = 4) and severe distal airway malacia in 3. All the external bioabsorbable splints were placed in patients with severe airway malacia secondary to lack of cartilaginous support and/or extrinsic compression. During follow-up 3/9 stented patients and 3/9 splinted patients did not experience any significant adverse events. Six of nine stented patients experienced serious adverse events: significant in-stent stenosis (n = 3), stent migration, and obstructive granulation tissue (n = 1), erosion through airway wall (n = 1), and death (n = 2). Of the nine splinted patients, one bronchial splint fractured, requiring replacement, and five patients required tracheostomies for continued respiratory failure from unilateral pulmonary hypoplasia and residual distal tracheal stenosis (n = 1), severe tracheomalacia (n = 2), subglottic stenosis (n = 1), and laryngeal cleft (n = 1). One patient died a week after surgery. Conclusion Airway internal stenting and external bioabsorbable splinting are effective therapeutic strategies for selected patients with complex airway abnormalities. Bioabsorbable splints are effective in maintaining airway patency, and being absorbable allow for age-proportional growth of the airways. Airway stents can be associated with significant adverse events and therefore should be reserved for patients who have failed other therapeutical strategies.

Congenital unilateral pulmonary hypoplasia presenting as cardiac dextroposition on prenatal ultrasonography

Objective: To report a case of congenital right pulmonary hypoplasia presenting as cardiac dextroposition on prenatal ultrasonography. Case Report: A 29-year-old woman with fetal dextroposition visited this institution at 24 weeks of gestation. Prenatal fetal echocardiography and detailed ultrasonography could not detect fetal anomaly except for fetal dextroposition. However, congenital pulmonary hypoplasia was diagnosed postnatally. Conclusion: Primary unilateral pulmonary hypoplasia should be suspected in cases with abnormal heart position of an unknown origin and fetal magnetic resonance imaging (MRI) could be an additional option for prenatal diagnosis of primary pulmonary hypoplasia.

Unilateral lung hypoplasia presenting in seventh decade of life: a rare case report

Pulmonary hypoplasia is a bronchopulmonary foregut anomaly in which gross morphology of the lung is preserved but there is decrease in the number or size of airways, vessels, and alveoli. Unilateral pulmonary hypoplasia is a rare clinical condition and most patients reported in the literature are newborns and infants, but patients may remain asymptomatic until late adolescent or till adulthood 65 years old male with parkinsonism was referred to our department with complaints of recent chest symptoms. Clinical examination revealed loss of lung volume in left hemithorax. CT scan thorax and bronchoscopy confirmed the diagnosis of left sided pulmonary hypoplasia. This case report highlights the possibility of pulmonary hypoplasia as one of the differential diagnoses in adult patients presenting with loss of lung volume and to the best of our knowledge he is the eldest patient so far reported.

Asymptomatic unilateral pulmonary hypoplasia/agenesis in adults: A report of six cases

Bilateral pulmonary agenesis is incompatible with extrauterine life. Unilateral pulmonary hypoplasia or agenesis is rare, the vast majority of cases presenting in the newborn, infancy, or early childhood, with respiratory symptoms. Pulmonary hypoplasia or agenesis presenting in adults is extremely rare, and the initial chest radiographs may present significant interpretation challenges. We report six patients encountered incidentally in a 10-year period, during which approximately 400,000 routine adult chest radiographs were reported. In all six cases, the chest X-ray films were equivocal, and multidetector computed tomography (CT) was required to settle the diagnosis. The cases are presented to draw the attention of radiologists and physicians to this rarity and to avert the kind of initial errors that we made in interpreting their chest radiographs. The invaluable role of multidetector CT in resolving this potential confusion is emphasized. A brief review of the relevant literature is undertaken.

PH Grand Rounds: Chronic Thromboembolic Disease Cloaking Unilateral Pulmonary Artery Hypoplasia

PH Grand Rounds: Chronic Thromboembolic Disease Cloaking Unilateral Pulmonary Artery Hypoplasia

Isolated Unilateral Pulmonary Artery Hypoplasia with Accompanying Pulmonary Parenchymal Findings on CT: A Case Report

Isolated Unilateral Pulmonary Artery Hypoplasia with Accompanying Pulmonary Parenchymal Findings on CT: A Case Report

Unilateral pulmonary hypoplasia in an adult

Pulmonary hypoplasia is a bronchopulmonary foregut anomaly characterized by a decrease in the number or size of airways, vessels, and alveoli. Unilateral pulmonary hypoplasia is a rare congenital anomaly, which is frequently associated with other congenital anomalies. Clinical symptoms vary depending on the other system anomalies and severity of pulmonary hypoplasia. Although it is usually diagnosed in infancy and childhood, some cases do not show any symptoms until the adolescent ages. A case of the right-sided pulmonary hypoplasia is described. A 20-year-old male was referred to our department with complaints of cough, breathlessness and right sided chest pain. Chest roentgenogram showed a homogeneous opacity, shifting of the mediastinum, and narrowing of intercostal spaces on the right and an overinflated left lung. Computed tomography scan of the thorax confirmed the diagnosis of right-sided pulmonary hypoplasia. It was not associated with any other developmental anomaly.

Unilateral Right Pulmonary Hypoplasia with Right Azygous Lobe

Unilateral Right Pulmonary Hypoplasia with Right Azygous Lobe

Unilateral Pulmonary Hypoplasia In An Asymptomatic Adult

A case of Unilateral hypoplasia lung in a 24 years old male is presented here who was referred to our hospital by his primary care provider with an abnormal chest x-ray and on further investigation with computed tomography of thorax and bronchoscopy he was found to have left hypoplastic lung with no other anatomic abnormalities.

Unilateral Pulmonary Hypoplasia in a Child

Pulmonary hypoplasia is an uncommon congenital anomaly. A case reported in a six year old male child from Bangladesh who presented with chronic dry cough, episodic fever and occasional haemoptysis causing confusion with tuberculosis. X-ray suggested lung collapse. Final diagnosis reached by combined bronchoscopy, computed tomogram scan of chest and pulmonary angiogram. In a child with complete radiological lung collapse possibility of pulmonary hypoplasia should be kept in mind.

Efficacy of the 'intrapulmonary-artery septation' surgical approach for Fontan candidates with unilateral pulmonary arterial hypoplasia†.

The bilaterally unbalanced development of pulmonary arteries (PAs), as a result of unilateral pulmonary arterial hypoplasia (PAhypo) makes patients either ineligible for the Fontan operation or candidates for the one-lung Fontan operation. In the present study, we examined the efficacy of intrapulmonary-artery septation (IPAS), a technique we reported in 2007 in which a septation is constructed within the central PA, in patients with unilateral PAhypo. Sixteen patients with unilateral PAhypo and an affected PA index of ≤60 mm(2)/m(2), including non-confluent PA (NCPA), underwent IPAS between January 2000 and March 2012; patients with pulmonary venous obstruction were excluded from this study. We compared the affected PA index values before and after IPAS and after the Fontan operation as well as the bilateral pulmonary blood flow ratio using pulmonary scintigraphy. The post-Fontan operation values of central venous pressure (CVP), pulmonary vascular resistance (PVR), ventricular end-diastolic pressure (VEDP), cardiac index (CI) and arterial oxygen saturation (SaO2) at the most recent cardiac catheterization, as well as the pre-IPAS and post-Fontan New York Heart Association (NYHA) classification levels were examined. One patient died after IPAS (survival rate, 93.8%). Thirteen (86.7%) of the surviving 15 patients underwent the Fontan operation. The mean PA indexes were 25.5 ± 18.9 mm(2)/m(2) before IPAS and 67.9 ± 34.2 mm(2)/m(2) after IPAS (P = 0.003); the mean PA index was 71.1 ± 50.0 mm(2)/m(2) after the Fontan operation. Restenosis did not occur after the Fontan operation, and the PA diameters were maintained. The mean affected/unaffected lung blood flow ratio was 0.89 ± 0.67. The most recent cardiac catheterization after the Fontan operation indicated the following values: CVP, 11.7 ± 1.8 mmHg; PVR, 1.3 ± 0.4 U m(2); EDP, 5.7 ± 2.0 mmHg; CI, 3.1 ± 0.5 l/min/m(2) and SaO2, 94.9 ± 2.0%. The mean pre-IPAS and post-Fontan NYHA levels were 2.3 ± 0.6 and 1.2 ± 0.4, respectively (P = 0.0002). With IPAS, the affected PA diameters increased significantly, and were maintained after the Fontan operation, and continuity of the native PAs was achieved. IPAS is very effective for patients suffering from otherwise intractable diseases.

Jarcho-Levin syndrome with association of unilateral pulmonary hypoplasia and diastometamyelia: A case illustration.

Sir, Jarcho–Levin syndrome (JLS) is a rare distinctive form of short-trunk dwarfism with rib and vertebral anomalies. This is the first case of a newborn exhibiting an unusual combination of spondylothoracic and spndylocostal JLS with lung anomaly and diastematomyelia to be reported. A new born (1-day-old) male baby, born by Lower segment Caesarean section (indication was nonprogression of labor), birth weight 2.35 kg, first child of nonconsanguinous marriage, was referred to our tertiary care hospital with multiple anomalies and recurrent episodes of cough, cold, vomiting after feeds, and rapid breathing. On examination, the baby was afebrile, with tachycardia, and tachypnea (32 per min). Head circumference was 35 cm, short stature (length is 37 cm), short neck, anteverted nares and dysmorphic features (low-set ears, hypertelorism, high-arched palate, short upper segment). Distal penile hypospadias with chordee and penile torsion, bifid scrotum, hypertrophy of left hemiscrotum were also present. On further examination, abdomen was distended with visible bowel loops. Imperforate anus and anal pit was noted. Spinal examination showed scoliosis in thoracolumbar region with curvature to right along with sacral agenesis, left calcaneovalgus, and over-riding of feet. Chest radiography showed fusion and fanning of ribs [Figure 1a and b]. Milks scan [Figure 1c] was performed due to vomiting after feeds and images revealed no evidence of gastroesophageal reflux. Computed tomography of thorax showed hypoplastic left lung. MRI spine [Figure 2] showed severe kyphoscolotic deformity of dorsolumbar spine, agenesis of sacral segments, multiple vertebral segmentation and fusion anomalies in the dorsolumbar region. Bifid ribs were noted. Cervical cord was normal. There was a low-lying cord, split at D5 level by fibrous bar, which is known as diastometamyelia. 99m Tc DTPA (diethylene triamine penta acetic acid) renogram was performed to look for any associated renal anomalies and revealed bilateral normally functioning kidneys [Figure 1d]. Based on the constellation of symptoms and imaging findings, JLS was suspected and was advised DNA isolation.Figure 1: (a) Chest radiography showing short neck, fusion, and fanning of bilateral ribs. (b) radiography of spine showed scoliosis in thoracolumbar region with curvature to right along with sacral agenesis. (c) 99m Tc sulphur colloid gastroesophageal (GE) scintigraphy (otherwise known as milk scan) was performed to look for any GE reflux disease and was confirmed to be negative. (d) 99m Tc DTPA (diethylene triamine penta acetic acid) renogram showed normally functioning, PUJ (pelviureteric junction) nonobstructed bilateral kidneysFigure 2: Magnetic resonance imaging and computed tomography spine: Images revealed severe dorsolumbar kyphoscoliosis, sacral agenesis, multiple vertebral segmentation and fusion anomalies, and bifid ribs. Patient also showed diastometamyelia at D5 level (arrow)JLS is a rare distinctive form of short-trunk dwarfism with rib and vertebral anomalies. This is the first case of JLS revealing a rare combination of both subtypes of JLS with lung anomaly and diastematomyelia the other case published from India showed diastematomyelia and spondylocostal dysostosis.[1] Hernias, neural tube defects and anomalies of the anal opening, urinary tract, external genitalia, uterus and lower limbs may be associated.[2] Recently, airway abnormalities have been described in two patients with the JLS similar to our case.[3] Malformations of the spinal cord with a separation into two hemicords have been termed “diastematomyelia,” which has been rarely reported in the literature, which is present in our patient. JLS has been divided into two major subtypes, that is, spondylothoracic dysostosis (“fan-like” or crab-like” rib) and spondylocostal dysostosis (vertebral anomalies with marked rib anomalies such as absent ribs, abnormal orientation, irregularity of shape and size, bifurcation, broadening, fusion). They are more often short statured than patients with spondylothoracic dysostosis and have twice their survival rate and have no associated neural tube defects. Both these subtypes of JLS are inherited as autosomal recessive traits, and exhibit a high mortality rate.