Artikel
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate
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Veröffentlicht: | 17. April 2013 |
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Background and study purpose: Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias. The hallmark of CDP is aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group of skeletal dysplasia, brachytelephalangic CDP (BCDP) is probably under-reported. Here, we report on a neonate with BCDP with a new hemizygous missense mutation (c.332G>A (p.Arg11His in Exon 5 of the ARSE-gene) and severe spinal compression leading to quadriplegia.
Results: A 3,080-g infant boy was born at 372 weeks' gestation to a gravida III, para II mother by spontaneous vaginal delivery (unrelated parents). The pregnancy was uneventful except for polyhydramnios and absent fetal hiccups, but normal fetal movements.
The neonate had a moderately depressed midface with a hypoplastic nose with barely patent nares. The child was initially flaccid (APGAR scores of 2 and 5 at 5 and 10 minutes) with absent spontaneous movements. On chest X-ray pulmonary hypoplasia and bilateral pneumothoraces were seen. Later in the course, slightly improved motor activity of both upper and lower extremities was noted. A skeletal survey demonstrated changes with multiple punctate calcifications of the epiphyses and vertebrae. The infant remained respirator-dependent. On ultrasonography, paresis of the diaphragm was demonstrated. On cerebral MRI and 3-dimensional reconstruction, severe compression of the cervical spine and subluxation of C1 and C2 was noted. On day 27 of life, spinal decompression just below the foramen magnum and stabilization of C1 and C2 was performed. Following surgery, the infant remained ventilator-dependent and a tracheostomy was performed. The infant is alive on a home-respirator without deterioration of neurologic symptoms. In our patient, a new hemizygous missense mutation c.332G>A (p.Arg11His) could be identified in Exon 5 of the ARSE-gene.
Conclusions: It is important to take into consideration rare causes for respiratory failure. In children with BCDP, respiratory failure may be due to severe cervical spinal compression.