Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.

Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.A238T:p.Arg80* RIPPLY2 mutation in the homozygous state, was associated with severe malformation of the posterior elements of the cervical vertebral column. In both cases neurological symptoms occurred early in life due to spinal cord compromise. These two cases, in keeping with previous reports, highlight the early and progressive natural history of cervical deformity in this rare skeletal dysplasia and the need for close neurological and radiological surveillance. Surgical decision-making needs to carefully balance the need for early intervention to protect spinal cord function on one hand, with the problem of bone malformation and skeletal immaturity on the other.

Reconstruction of Concomitant Ruptures of Peroneus Longus and Brevis Tendons: A Case Report and Literature Review.

Peroneal tendon ruptures are caused by inversion trauma of the ankle and are often mistaken for simple ankle sprains. As a result, peroneal tendon ruptures are underdiagnosed; especially a concomitant rupture of both the brevis and longus tendons is extremely rare. We describe the case of concomitant rupture of both peroneal tendons in a 50-year-old male, diagnosed with magnetic resonance imaging and treated with a flexor digitorum longus tendon transfer. The flexor digitorum longus tendon was mobilized, transferred laterally, and anchored to the distal and proximal stubs of the peroneal tendons, acting like a bridge. At final follow-up (19 months after index surgery), the patient was relieved from his symptoms and had full range of motion. Imaging demonstrated a durable reconstruction. Evidence for the preferred surgical treatment is lacking in the current literature and is limited to small case series and case reports. Randomized prospective studies should be conducted to determine the optimal treatment. Based on current available data, surgical technique should be based on clinical observation (e.g., tendon quality) and imaging findings.

[Teenagers with torticollis]. / Tieners met een torticollis.

Teenagers with torticollis In this article we describe three cases of children with torticollis. A 17-year-old patient who appears to have Klippel-Feil syndrome and is treated conservatively. An 11-year-old-patient with torticollis, present since a fall two days earlier and attributed to a subluxation of C1-C2. Ultimately, she had to be treated surgically with an atlantoaxial spondylodesis and has made a good recovery. Finally, a 15-year-old who presents with torticollis which has been present from early childhood. The diagnosis neglected congenital muscular torticollis is made. Because of increasing discomfort she is treated surgically with release of the sternocleidomastoideus. Postoperative, the patient has fewer symptoms. Physicians should be aware of different causes when there is persistent torticollis. Furthermore, children presenting with posttraumatic torticollis require a strict follow-up because atlanto-axial subluxation can lead to permanent deformity.

[A young child with respiratory acidosis and hypoxia from mechanical ventilation with equipment made for adults]. / Een jong kind met respiratoire acidose en hypoxie door beademing met een systeem voor volwassenen.

BACKGROUND: During mechanical ventilation of young children, problems may arise due to the additional dead space of the ventilation circuit. This may lead to respiratory acidosis and even hypoxia in the child. CASE DESCRIPTION: A 3-month-old boy suffered from frequent apnoea. He was mechanically ventilated for this. Shortly after its initiation, he developed severe respiratory acidosis, hypoxemia and circulatory insufficiency. This was due to a large additional dead space caused by the use of equipment components made for adults. After he was switched to a circuit suitable for himself, he recovered rapidly. CONCLUSION: As a rule of thumb, an additional dead space of 1.5-2 ml/kg body weight is acceptable in young children. Emergency wards for young children should have specific equipment to mechanically ventilate them, and have a protocol paying explicit attention to the dead space.