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.
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