Congenital tracheal anomalies in the craniosynostosis syndromes

Congenital

Tracheal

By Michael

R. Noorily,

The authors present the case of Pfeiffer’s syndrome who underwent tracheal cartilaginous sleeve (TCS) apnea. There is growing recognition the spectrum of congenital cartilage patients with craniosynostosis (CS) demonstrates the difficult therapeutic the combination of hypopharyngeal abnormalities present in CS patients.

Anomalies Diana

L. Farmer, Detroit,

a 12-year-old girl with successful resection of a for treatment of sleep of the inclusion of TCS in malformations seen in syndromes. This case challenge created by and intrinsic airway The early recognition of

T

RACHEAL CARTILAGINOUS SLEEVE (TCS) is a rare congenital malformation that has been described exclusively in patients with one of the craniosynostosis (CS) syndromes (Crouzon, Apert’s, Pfeiffer’s).’ The defect is characterized by fusion of tracheal rings (or lack of ring separation) resulting in a solid cartilaginous tube with little or no pars membranacea posteriorly. Affected tracheobronchial trees have variable amounts of normal cartilage ring formation accompanied by a solid cartilaginous sleeve, which may extend into and even beyond the mainstem bronchi. We present a patient with Pfeiffer syndrome and TCS that extended from the larynx to five rings above the carina. At age 12, she underwent successful resection of the TCS with primary anastomosis that resulted in resolution of her sleep apnea. The next year, recurrent lesser symptoms were alleviated by a mandibular advancement to relieve hypopharyngeal obstruction. She has been asymptomatic for 1 year. This report illustrates and discusses the spectrum of defective systematic cartilage formation in CS syndromes and the importance of treating both the supralaryngeal and intrinsic airway disease in these patients. CASE

REPORT

Our patient was a full-term neonate born to a GlPO mother fanuly history of cramosynostosis. She was diagnosed with syndrome shortly after birth during evaluation of micrognathia required gavage feedmgs. She displayed bicoronal CS, broad and great toes, and the soft tissue syndactyly typically seen in

with no Pfeiffer that thumbs Pfeiffer

From the Departments of General Surgery, Pediatric Surgery, and 0torhinolalyngolog)s Children k Hospital of Michigan Wayne State UniversiQ, Detroit, Ml. Address reprint requests to Diana Lee Farme< MD, Department of Surgery, University of Califorma, San Francuco, 513 Parnassus Ave, HSW-1601, San Francisco, CA 94143-0570. Copyright o 1999 by WB. Snrmders Company 0022-3468/99/3406-0026$03.00/O 1036

in the Craniosynostosis Walter M. Belenky, Michigan

and Arvin

Syndromes

I. Philippart

TCS in these patients may provide the opportunity for improved outcome in this severely affected subgroup of CS patients with otherwise high mortality. J Pediatr Surg 34:7036-1039. Copyright o 1999 by W.B. Saunders Company.

INDEX WORDS: Craniosynostosis, tilaginous sleeve.

sleep

apnea,

tracheal

car-

syndrome. The patient subsequently had a long history of airway difficulty typical of CS patients that was managed by tracheostomy for much of her early life. She underwent tracheostomy at age 2.5 months for treatment of cyanotic episodes, at which time it was noted that her upper trachea was a solid cartdaginous tube. She subsequently underwent decannulation at 3 years of age, after which she was noted by her mother to be a “noisy breather” who “never slept.” She underwent craniofacial reconstructions at ages 3,4, and 6.5 years, the last of winch required temporary reinsertion of a tracheostomy with decannulation 3 months postoperatively. At age 11, she began to suffer from sleep apnea that necessitated sleeping seated and upright to prevent apneic episodes. At age 11.5 years, she underwent rhinoplasty and septoplasty for upper airway obstructive symptoms. After dental procedures at age 12, the patient’s airway symptoms became markedly exacerbated. Her mother reported that when her daughter lay supine. complete airway obstruction ensued. During this time. the patient “slept” 14 to 15 hours per day, awoke exhausted. and suffered from severe fatigue. Workup for the source of this sleep apnea included bronchoscopy, bronchogram, and magmfied airway evaluahon (Fig 1). Neck Aexion during bronchoscopy showed a “kinking off” of a narrowed. redundant segment of her lower trachea by the upper TCS (Fig 2). At age 12.5, the patient underwent resection of the TCS. Tracheal resection was performed via median stemotomy. The full length of the cartilaginous sleeve (approximately one half of her trachea) was resected with the distal trachea intubated with a sterile endotracheal tube in the operative field. A primary anastomosis was performed with interrupted PDS suture. She remained intubated for 7 postoperative days. Serial postoperative bronchoscopy findings showed no sign of anastomotic narrowing, and the patient was symptom free. Seven months postoperatively. an episode of respiratory distress was alleviated by bronchoscoplc excision of an anastomotic granuloma. At 14.5 years of age. she had a LeForte III facial reconstruction with temporary tracheostomy and subsequent uneventful decannulation. The patient currently is 15 years old and free of sleep apnea.

DISCUSSION

The association of TCS with CS syndromes has become more widely recognized in the last 10 years. The subgroup of CS patients with TCS suffers from increased morbidity and universal mortality in contrast to those with CS “normal” tracheobronchial development.2 The JournalofPediatricSurgery,

Vol34,No

6 (June),1999:pp

1036.1039

XACHEAL

ANOMALIES

IN CRANlOSYNOSTOSlS

Fig 1. Tracheobronchogram cheal segment below proximal present below the kink.

shows the distorted (“kinked”) tratracheal sleeve. Normal trachea is

average age at death in the 19 previously reported cases of concurrent CS-TCS was 31.3 months (Table 1). Seventeen of these patients (90%) were dead by 2 years of age, and in 11 (58%) the cause of death was directly

1037

attributed to airway disease. Two previous reports’.2 have proposed a common defect in mesenchymal development of all structures derived from preformed cartilage (eg, skull, trachea. spine. fingers, ribs) that links all CS patients. The premature fusion of these cartilage templates could explain the spectrum of abnormalities noted in the CS syndromes. Most of the literature on airway disease in CS patients has focused on hypopharyngeal obstruction and sleep apnea.3-6The incidence of TCS may be much higher than reported because many of the signs and symptoms from the tracheal anomaly may have been attributed falsely to the hypopharyngeal pathology. The cause of hypopharyngeal airway obstruction is believed to be related to reduced nasopharyngeal and oropharyngeal patency secondary to the posterior displacement of the bony and soft tissue structures created by premature craniofacial bone fusion. Management of airway compromise has been achieved through placement of nasal stents, operative excision of soft tissues (tonsils, uvula), and facial reconstruction. Because endotracheal intubation is frequently difficult, tracheostomy often is necessary to facilitate the numerous operative procedures. Mixter et al7 described a patient with a TCS who died of trachea1 obstruction created by granulation tissue formation at the end of multiple tracheostomy tubes. The investigators also reported intratracheal inversion of the tracheal flap as an additional source of obstruction. At least 9 of the 20 patients with TCS reviewed for this report underwent at least one tracheostomy during their life. The internal lining of the TCS has been reported to be more susceptible to granulation tissue formation after tracheostomy.7 Modification of the technique used for tracheostomy may be necessary in patients with TCS to avoid the potential complications noted when a U-shaped tracheal flap is PRE-OP

POST-OP

Cross

Fig 2. Schematic diagram of sleep apnea mechanism and post operative result.

Sections

NOORILY

1038

Table 1. Tracheal Patient NO 1

cs Syndrome

Study (yr)

Blank*

Apert

(1960)

Cartilaginous

Sleeves

in the Literature

CCWSf? of Death

Outcome

Died 15 mo

Reported

TCS Path

“Cartilage

Unknown

anomalies

chea and larger 2 3 4

Schmidg Schmid9

(1971) (1971)

Shimada

and Misugi’O

5

Shimada

and Misugr’o

6

SchaferI

(1982)

7

Devine

ET AL

in the walls

of the tra-

bronchi”

Crouzon

Dred 2 yr Died 13 mo Stillbrrth

Unknown Unknown

Unknown Unknown

(1979)

Apert Apert

Stillbirth

Entire trachea and bilateral membranacea

(1979)

Apert?

Died 40 d

Dyspnealstndor

Entire trachea, membranacea

bilateral

bronchi

Died 1 yr

Respiratory

Drstorted

tracheal

rings

decreased

upper

bronchi,

no

upper

bronchi,

no

et am (1984)

Crouzon

Died 23 mo

Sudden

distress

thick

lumenal diameter Entire trachea, bilateral

death?

bronchi

no pars

(+) pars

pars membranacea 8

Stone

et aP2 (1990)

9 10

Mixter Mixter

at al7 (1990) et al7 (1990)

11

Wells

et aIT3 (1990)

Apert

12 13 14

Davis

Pfeiffer

et aI1 (1992)

Died 3 mo

Respiratory

Pfeiffer

Died 1 mo

Tracheal

Apert

Died 30 yr

Anast.

Died 3.5 mo

Pulmonary

Cloverleaf

Davrs at aI1 (19921 Davis

Died 8 mo Dred 7 vr

et al’ (1992)

Pfeiffer

Died 13 mo

distress granulation

dehiscence

Entire trachea, bilateral pars membranacea Completely cartrlaginous Cartrlaginous rings

disease

Entire

Davis

16

Davrs et al’ (1992)

17

et al’ (1992)

18

Cohen Cohen

and Krerborg2 and Kreiborgz

19

Lodge

et alI4 (1993)

20

Noorily

et al (current

Apert (1992) (1992)

study)

Apert Apert

Meningitis Massive

membranacea Tracheal sleeve

Seizures,

Died 3 mo

Sudden

Died 10 mo

Meningitis

upper

GI bleed

sepsis death?

narrow Stenotic

trachea with

bilateral then with

rudimentary

bronchi, partial

(+) pars rings,

Apnea, Apnea,

seizures seizures

Pfeiffer

Died 15 mo

Airway

complication

Pfeiffer

Alive

no pars

cart. bars posteriorly,

pars membranacea glottis entire trachea,

bilateral

bronchi

2 normal rings mid-trachea, with cart. bars posteriorly

tracheal

Narrow pars membranacea Entire trachea, bilateral bronchi,

Died 6.5 mo Died 1 d

15 yr

trachea,

membranacea Trachea, bronchi,

upper 15

trachea

pars membranacea Entire trachea, bilateral Trachea with thick branacea

rings,

upper

narrow bronchi

narrow

“Fusion of tracheal rrngs” Solid from larynx to 5 rings

sleeve

above

pars mem-

carina

no

pars membranacea

used in tracheostomy creation. Excision of a small segment of trachea may be preferable. Numerous previous report9 on sleep apnea in CS patients have focused on hypopharyngeal pathology as the source of airway obstruction. All advocated tracheostomy as a temporizing measure to provide a stable airway until facial reconstruction was complete. Sleep-related breathing disorders are observed in higher frequency in CS patients and have been reported to lead to car pulmonale in end-stage disease.5 In many instances, obstruction is believed to be caused by inability of the small oropharynx to accommodate normal-sized soft tissues (ie, tongue, uvula, tonsils). This is complicated by the fact that many of these patients are already obligate oral breathers because of nasopharyngeal obstruction. Our patient had a previously unreported cause of sleep apnea in which the lower airway “kinked” whenever she flexed her neck. The presence of the TCS makes the airway more susceptible to obstruction. The sleeve lacks

the normal flexibility of tracheal rings causing the upper rigid tube to occlude the lumen of sleeping in a position that minimized neck flexion. Once the sleeve was removed, she was able to flex her neck without cutting off airflow. The diagnosis of TCS almost always is made postmortem. Review of reported autopsy specimens demonstrates there is a broad spectrum of cartilaginous abnormalities in CS patients. The sleeve may involve the entire tracheobronchial tree or a small segment of abnormal rings. We propose a classification system of TCS abnormalities based on the length of the sleeve in relation to the normal tracheobronchial element present (Table 2). The longer-length sleeves seem to be associated with shorter life expectancies. Life expectancy is dramatically decreased in patients with TCS extending to or beyond the carina (class III-IV). Mixtes et al7 described several CS patients with lower airway bronchoscopic abnormalities. In those that died,

TRACHEAL

ANOMALIES

Table 2. Proposed Cla?S

I

IN CRANIOSYNOSTOSIS

Classification

TCS Pathology

of Tracheal

1039

Cartilaginous

Affected Patent No.

Sleeves

Age at Death

mo, 12 mo, 30 yr,

Abnormally thick distinct tracheal rings

1, 6,10,18

II

Isolated segment of fused rings

13, 15,20

7 yr, 3

Ill

Sleeve involves entire trachea

9, 19

1 mo, 15 mo

IV

Sleeve

4,5,7,8,11,12,

0 mo, 40 d, 23 mo, 3

extends

beyond

carina

15

Id

14,16,17

mo, 15 yr (+)

mo, 3.5 mo, 8 mo, 13 mo, 10 mo, 6.5 mo

NOTE.

(+) indicates

patients

still alive.

TCS was found on autopsy. The remaining patients with endoscopic abnormalities may represent unrecognized TCS. Until lower airway evaluation is standard in CS patients, the treatment of this entity may remain unnecessarily delayed. Increased physician awareness of the possibility of TCS in patients with CS should improve management in affected patients. Early recognition and treatment may prevent premature demise. In the current review, half of the patients had extension of the TCS

beyond the carina. In this circumstance, no curative surgical options may exist. However, in those symptomatic patients with limited TCS (class I-II) we propose that surgical resection may be curative. The only previous report of tracheal sleeve resection involved a 30-year-old Apert’s patient with TCS consisting of cartilaginous trachea with rudimentary tracheal rings.7 The patient died 14 days postoperatively secondary to pulmonary sepsis resulting from tracheal anastomotic dehiscence. TCS is an anomaly associated with CS syndromes that complicates the management of airway disease in these patients. Active investigation for its presence with bronchoscopy or computed tomography scan reconstruction should be sought as part of the initial diagnostic workup of CS patients. Great caution must be exercised in the creation and care of tracheostomies in TCS patients to avoid catastrophic complications. Tracheal cartilaginous sleeve resection, when feasible, may provide the best chance for cure of lower airway pathophysiology in affected patients. ACKNOWLEDGMENT The authors thank William the line drawings.

Loeschel

for the artistic

work

in creatmg

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9. Schmid H: Synchondrosen des laryngotrachrealokeletts und tracheostenose beim Apert-Crouzon syndrome. Zentralbl Alle Path01 114:326-337, 1971 10. Shimada H, Misugi K: Anomalies of the tracheal cartilage. Acta Path01 Japan 29:1001-1011, 1979 11. Devine P. Bhan I, Feingold M, et al: Completely cartilaginous trachea in a cluld with Crouzon syndrome. Am J Dis Child 138:40-43, 1984 1’2. Stone P, Trevenen CL, Mitchell I, et al: Congenital tracheal stenosis in Pfeiffer syndrome. Clin Genet 38:145-148, 1990 13. Wells TR. Falk RE, Senac MO, et al, Acrocephalospondylosyndactly-A possible new syndrome: Analysis of the vertebral and intervertebral components. Pediatr Path01 10:117-131, 1990 14. Lodge ML, Moore MH. Hanieh A, et al: The cloverleaf skull anomaly: Managing extreme crania-orbitofacistenosls. Plast Reconstr Surg 91:1-9. 1993 15. Moore MH, Cantrell SB, Trott JA, et al: Pfeiffer syndrome: A clinical review. Cleft Palate-Cranjofac J 3262-70, 1995 16. Schafer ME: Upper airway obstruction and sleep disorders in children with cramofacial anomalies. Clin Plast Surg 9:X5. 1982