A rare association of neurological lesions, lung
and facial anomalies combined in a classical polymalformative syndrome.
Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal,
Limbs with Hydrocephalus; Sujansky Leonard Syndrome; David-O'Callaghan
Syndrome; Hunter-MacMurray Syndrome.
Pattern of inheritance is unclear. Both
autosomal recessive and X-linked forms may occur. Mutation in the PTEN gene
(located on 10q23.31) also has been evocated.
VACTERL, like other associations, is causally
heterogeneous, reflecting disturbance of a multidimensional developmental
process and producing different patterns of anomalies based on the area,
timing, magnitude, and nature of the specific insult involved. The
hydrocephalus develops secondary to cerebral aqueductal stenosis, distinct
from other central nervous system (CNS) malformations.
At birth, based on clinical features; the diagnosis is
one of exclusion of other recognized causes of this phenotype.
The acronym emphasizes only the most frequent
malformations; a wide variety of other defects, affecting most parts of the
body, may be associated including head (prominent epicanthus, flat nasal bridge,
choanal atresia, micrognathia, low-set malformed ears), thorax (spondylocostal
dysplasia, hypoplastic lungs, laryngeal stenosis), heart (ventricular septal
defects, patent ductus arteriosus, tetralogy of Fallot, transposition of the
great arteries), gastrointestinal tract (anal atresia [controversial], esophageal and duodenal
atresia); urogenital tract (urethral atresia, renal agenesis, hydronephrocolpos,
hydronephrosis, hypospadias), skeleton (polydactyly and proximally placed thumbs,
humeral hypoplasia, radial aplasia, vertebral dysgenesis, spondylocostal
dysplasia, scoliosis, and hemivertebrae), and CNS (hydrocephalus, aqueductal
stenosis, encephalocele, meningocele, papilledema, and agenesis of corpus
callosum). Prognosis is generally poor.
Assessment of respiratory function
(clinical, chest radiographs, arterial blood gases). Evaluate cardiac
function (clinical, ECG, chest radiographs, echocardiography). Vertebral
malformations must be sought if regional anesthesia is considered. Evaluate
neurological function (clinical, EEG, CT/MRI, transfontanelle ultrasonography)
and renal function (echography, laboratory investigations, including urea,
creatinine, electrolytes). Preoperative evaluation is often limited by the
relative emergency of the surgery.
Direct laryngoscopy and tracheal intubation
can be difficult. High risk of pulmonary aspiration because of the presence of a
tracheoesophageal fistula. Meanwhile, preserving spontaneous ventilation is
recommended until the trachea is secured. The presence of facial malformations and
the tracheoesophageal fistula may lead to unwanted inflation of the stomach during
face-mask ventilation. Careful observation of the respiratory function
and the presence of any cardiac abnormality must be done at all times. Special
attention must be provided with positioning of endotracheal tube because of the
presence of the tracheoesophageal fistula. Chest radiography prior to surgery is
recommended to assess tube position (just over carina). Arterial catheterization
can be difficult to realize in case of radial defect. Postoperative ventilatory
support may be considered because of tracheal fistula.
Consider risk of impaired renal
function and implications on anesthetic drugs and intraoperative fluid
regimen. Antibiotic prophylaxis in cases of cardiac defect. Avoid muscle
relaxants until airway is secured and lung ventilation, without stomach
insufflation, is confirmed.
VACTERL Association with Hydrocephalus, X-Linked: Very rare;