Tricho-rhino-phalangeal syndrome (TRPS) presents a number of anaesthetic challenges, including airway and skeletal abnormalities, frequent respiratory infections, as well as cardiac defects and anaemia. The particular constellation of issues depends on the specific form of TRPS. Anaesthesiologists should be aware of these potential problems when caring for patients with TRPS.
TRPS occurs rarely, but is associated with a number of potential anaesthetic challenges. The most important are airway considerations, positioning issues, and cardiac abnormalities.
A 14-yr-old female, diagnosed with vaginal agenesis, was scheduled for exploratory laparotomy and cystoscopy. At a previous laparotomy for possible appendicitis, 2 months prior to this procedure, a pelvis filled with chocolate-coloured blood and an arcuate uterus with bilateral haemosalpinx had been found. The patient was known to have TRPS types 1 and 3 with a family history extending back five generations. She had also been recently diagnosed with a seizure disorder of unknown aetiology that was not believed to be related to her syndrome and was controlled with carbamazepine and gabapentin. According to her parents a ventricular septal defect had been diagnosed at birth, but the patient was not being followed by a cardiologist and she was not limited by it symptomatically. No murmur was auscultated. She was very anxious, of an apparently normal level of intelligence, with extremely short stature (weight 29 kg), fine hair, a pear-shaped nose, very irregular dentition and mild micrognathia (Fig. 1). Despite her micrognathia, her airway appeared to be Mallampatti Class I.
After premedication with midazolam 1 mg intravenously (i.v.), the patient was taken to the operating room. Routine monitors were placed and she was preoxygenated. Induction was accomplished with propofol 100 mg and lidocaine 50 mg i.v. Mask ventilation was found to be very easy even without the use of an oral airway. Muscle relaxation was induced with rocuronium 40 mg. Intubation was accomplished atraumatically with a Macintosh 3 blade and a 6.0-mm cuffed tracheal tube was placed. Relaxation was maintained with vecuronium; fentanyl and morphine were titrated for pain control. The patient was stable throughout the procedure from an anaesthetic standpoint. The surgery, however, was complicated and prolonged due to the patient's unusual pelvic anatomy and multiple adhesions and lasted a total of 4 h. The surgeons were unable to satisfactorily locate viable cervical tissue and decided to perform a hysterectomy instead of attempting a reconstruction.
At the conclusion of surgery, the patient was taken to the postanaesthesia care unit with the tracheal tube in place. When she was fully awake, she was extubated without difficulty. Her postanaesthesia course was uncomplicated and she was discharged on postoperative day 4.
Three forms of the TRPS have been described [1,2]. Type 1 is characterized by normal intelligence, a characteristic facies with sparse hair, laterally thinning eyebrows, pear-shaped nose, abnormal dentition and mild micrognathia, and has been associated with recurrent respiratory infections although not associated with any specific immunologic defect . These patients typically have short stature, cone-shaped epiphyses, and may have premature degenerative hip disease . It is typically inherited in an autosomal dominant fashion and is due to a mutation in the TRPS 1 gene on chromosome 8 . An autosomal recessive form may exist . TRPS 3 appears to result from a specific missense mutation in the TRPS 1 gene. It is phenotypically very similar to TRPS 1, but is differentiated by severe brachydactyly and short stature. Langer-Giedon syndrome, also referred to as TRPS type 2, has similar phenotypic findings, but also includes mental retardation, multiple exostoses, redundant skin in infancy, and a higher incidence of congenital cardiac defects, seizure disorders, hypochromic anaemia and hyperextensible joints. These patients may have other facial deformities (including thick alae nasi and a thin upper lip) and various bone abnormalities . It occurs in a sporadic fashion and is due to a large deletion on chromosome 8 .
TRPS offers a number of potential challenges to the anaesthesiologist. Individuals with types 1 and 3 may present difficulties during laryngoscopy and intubation caused by the combination of irregular dentition with varying degrees of micrognathia. Frequent respiratory infections may cause cancellation of non-emergent cases, and may be associated with a greater incidence of respiratory adverse events during and after surgery. Patients and parents should be aware of this potential increase in perioperative risk. Bone abnormalities and premature degenerative hip joint disease warrant particular care in positioning, with extremities placed as much as possible in natural positions. Type 2 presents similar anaesthetic concerns, but in addition these patients may require antibiotic prophylaxis for congenital heart defects. Also, there may be a greater likelihood of transfusion requirement if anaemia is present. Hyperextensible joints and bone abnormalities warrant great care in positioning these patients. If nasal intubation is required (e.g. for procedures on the affected dentition), a smaller tube size may be needed because of the hypertrophied alae nasi.
In conclusion, although the case reported was uncomplicated from an anaesthetic standpoint, a number of concerns should be considered by the anaesthesiologists in individuals with TRPS, and potential increased risk should be communicated clearly to patients and parents.
L. S. Graybeal
V. C. Baum
M. E. Durieux
1Department of Anaesthesiology, University of Virgina Health System, Charlottesville, USA
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