Keywords
Jeune's syndrome - asphyxiating thoracic dystrophy - mandible locking plate - thoracic
insufficiency syndrome
In 1955, Jeune et al described familial asphyxiating thoracic dystrophy in a pair
of siblings with severely narrowed chests.[1] The term “asphyxiating thoracic dystrophy” has been used both as a synonym of Jeune's
syndrome (JS) and as a diagnostic term for any instance of a severely constricted
chest.[2]
The gene responsible for JS (IFT80) is inherited in an autosomal recessive manner.[3]
[4] Most deaths are in the first 2 years of life due to respiratory failure after thoracic
insufficiency syndrome (TIS).[5] The manifestations in skeletal system are dwarfism, hypoplastic chest (“bell” shape
at anterior look) with short ribs, short limbs, polydactyly, and specific radiographic
changes in the ribs and pelvis.[6]
[7] Some patients develop late ocular complications such as “retinitis pigmentosa.”[8]
Aim
To present the treatment of one of the skeletal manifestations of JS, the hypoplastic
chest, which can result in TIS and present “on-demand” stage surgical technique using
mandible locking plate system for the ribs' fixation.
Case Report
The diagnosis “Jeune's syndrome” was presented clinically in a 3-month-old girl from
a family in which the first child died of JS at the age of 18 months. Our little patient
was with bilateral depression of the chest from the fourth to eighth rib, from the
sternum to the anterior and midaxillary line ([Figs. 1] and [2]). X-ray follow-up examination 3 months later showed progression of the deformity
with the appearance of chest deformity and computed tomography (CT) image of lung
compression ([Figs. 2]–[4]). Due to logistic and financial problems, the operation was postponed for 5 months.
In the end of that waiting period, the child had clinically presented TIS. First operation
was indicated and done in that period of deterioration of respiratory function—main
symptom of TIS.[9] It was proved by clinical findings and direct measurement of the lung volume at
CT scan examination. It was 197.11 mL. We resected the deformed ribs (fifth to eighth)
bilaterally and fix them with locking plate contoured in a “crown” shape and two shorter
plates situated at both sides to sustain the resected ribs bilaterally ([Fig. 5]). Postoperative X-rays showed excellent ribs position and good chest symmetry ([Figs. 6] and [7]). The volume of the chest was increased (220.42 mL).
Fig. 1 Front view of the child's chest before the first operation.
Fig. 2 Left lateral view of the child's chest before the first operation.
Fig. 3 Three-dimensional reconstruction computed tomography scan of the chest 5 months before
the operation; left lateral.
Fig. 4 Computed tomography scan of the chest 5 months before the operation demonstrates
the lung compression.
Fig. 5 Contoured mandible locking plates used in the first operation.
Fig. 6 Three-dimensional reconstruction computed tomography scan of the chest after the
first operation; anteroposterior view.
Fig. 7 Three-dimensional reconstruction computed tomography scan of the chest after the
first operation; axial view. Note the restored anterolateral contour of the chest.
Five months later we performed implants removal operation. We realized that there
was a risk of asymmetric chest growth because of the implants' rigidity.
For nearly 10 months, the rib cage preserved its stability and had clinically symmetric
growth. The child was in a very good condition.
At the beginning of the 11th month after the first operation, we observed first clinical
manifestation of a” bell-shaped” chest. During the next 3 months, the upper part of
the previously nonfixed, but resected ribs started inward growing fast, forming the
typically “bell” shape chest ([Fig. 8]). We observed that this process started first from the costal cartilage and progressed
to the bony parts of the ribs. The thorax was again asymmetrical and the value of
thumb excursion test was +1.[10] That was the indication for our second operation. Through direct skin approach,
we made chevron shape resections of the deformed ribs at two points ([Fig. 9]). We used two short mandible locking plates placed anterolaterally for the ribs'
fixation ([Fig. 10]). Two plates sustain the chest volume and the resected ribs. The early postoperative
period was without any complications. The direct lung volume measured was 232 mL.
Fig. 8 Front view of the child's chest before the second operation.
Fig. 9 Front view of the child's chest immediately after the second operation (correction
of the bell-shaped chest wall).
Fig. 10 Three-dimensional reconstruction computed tomography scan of the chest after the
second operation; anteroposterior view.
Three months later, the implants were removed. The appearance of the chest is symmetric
vertically and horizontally ([Figs. 11] and [12]).
Fig. 11 Front view of the child's chest 9 months after the second implant removal operation.
Fig. 12 Lateral view of the child's chest 9 months after the second implant removal operation.
Methods
The atypical use of a double-angled mandible locking plate was necessary because of
the very small size and tenderness of the ribs ([Fig. 13]). Our preoperative planning of the first operation was based especially on three-dimensional
(3D) CT examination results and had to determine the specific intraoperative shaping
of the implants and fixation points to the ribs. We evaluated the total chest hypoplasia
by comparison of the circumference of the chest with normal value. We came to the
conclusion that the shape of the implant must be similar to the rib contour of the
lower part of the chest and resemble shape of a “crown.” We had to ensure the 3D stability,
from the dorsal part of the chest, behind the most curved ribs, to the place over
the rib resections. Plate was fixed by locking screws. We secured the plate fixation
by absorbable sutures. The implant removal was done 5 months after the first operation.
Second operative correction was done 9 months after the first. The need of it was
estimated after clinical examination (thumb excursion test), X-ray, and CT examination.
It was impossible to measure the respiratory capacity of the lungs (pulmonary function
tests) because of the small age of the patient.[6] Loss of the chest wall mobility and chest asymmetry were main indications for second
correction. We used two mandible locking plates to correct the deformity. During the
operation, we resected four angulated ribs bilaterally, performing osteotomies and
chondrotomies to achieve increase of the thoracic volume. The second implant removal
was made 4 months after the second correction.
Fig. 13 Long (32 holes) mandible reconstructive locking plate (scheme) used in the first
operation.
In both the reconstructive operations, we spared the rectus abdominis and pectoral
muscles and inserted the plates under them immediately over the rib cage. Fixation
was performed with small three-point locking screws and long-term absorbable sutures.
We observed smooth postoperative period in all the operations.
Results
The surgical decisions about patients with JS are very difficult and depend on the
phenotype expression, the speed of evolution, and the time of clinical worsening.
Main concept in surgical treatment of our patient was to enlarge the volume of the
chest. We achieved it by the ribs' reconstruction after the first operation. Early
postoperative result was good. Child had longitudinal growth of the thorax but not
at width and depth. We observed that the rigidity of the implants constricted the
chest additionally and removed the implants. In the next few months, the longitudinal
chest growth was preserved but the deformity gradually relapsed. Basically, the “bell”
shape of the chest prompt us for the second “on demand” operation. We cut four deformed
ribs at two points around the rib angle and used two short mandible plates for fixation,
sparing the rib's periosteum. We made good axial and frontal plane distractions of
resected ribs with the mandible locking plates. Both the reconstructive operations
were performed to enlarge the volume of the thorax. We took material for histological
examination from different parts of the ribs. Histological examination of the material
from costochondral junction showed spotty endochondral ossification with highly disorganized
chondrocyte columns—a sign that some other authors found also.[11]
[12]
Discussion
Primary JS is a rare, specific multisystem genetic disorder with clinical manifestations
in renal, digestive, respiratory, and skeletal systems, which lead to the death of
half to three-fourths of patients, with incidence of 1 case per approximately 120,000
live births.[1]
[2]
[3]
[6] One of the most serious complications is the growth arrest of the chest at width
and depth. It results to TIS, which is hardly diagnosed by pulmonary function tests
in small age patients.[6] Diagnosis is based at clinical signs, clinical examination, loss of the chest wall
mobility, chest asymmetry, and indices measured at radiographs and CT scans.
If it is proved that the deformity of the chest wall does exist but symptoms of JS
are mild, normally there is no need to operate but must perform regular follow-ups.
While there is indeed significant reduction of the chest volume since the patients
themselves are small in stature, they may be able to live a relatively normal life
in spite of the deformity.
Surgical treatment is according to the findings at any separate case, but the basic
principle is to provide acute increase of the chest volume and sufficient place for
the lungs.
Different authors suggested different decisions according to the specificity of the
case.
Campbell et al proposed open-wedge thoracostomy or use of Vertical Expandable Prosthetic
Titanium Rib (VEPTR) system in TIS cases.[9]
[13] We think that the use of VEPTR in our case would only maintain vertical extension
but not the 3D increase of the chest volume. The main problem in our case is the growth
deficiency of the chest at width and depth.
Some authors like Fette and Rokitansky used thoracoplasty with metal implants offering
survival.[14]
Aronson et al proposed homologous bone graft for expansion thoracoplasty.[15] Davis et al performed lateral thoracic expansion for the treatment of JS.[16] Some other authors made stage operations. Split of the sternum and gradually expand
the divided sternum to a total of 3 cm widening, using a Leibinger midface distractor
converting this technique of distraction osteogenesis leading to successful expansion
of the ribs.[17]
We believe that the treatment should be “on demand” according to the course of the
illness and the results of the follow-up examinations and adequate to the progress
of chest wall deformity.
Conclusion
Surgical treatment of the chest deformity in JS is obligatory when TIS starts to develop.
We think that conventional rib fixation plate cannot find place in treatment of patients
with small dimensions of ribs and chest. That is why we recommend using such orthopaedic
implants in similar cases concerning reconstructive operations of thorax.
No successful surgical techniques have been described in the literature for the treatment
of TIS in childhood.[17] The future of our case is unknown. It depends on the evolution of the illness. Our
strategy will be close observation of the patient with regular follow-ups and surgical
decisions according to the development of the symptoms adapted to the individual requirements.
This “on-demand surgery” must be performed before the development of TIS and any need
of mechanical respiratory ventilation.
