VACTERL Association with Hydrocephalus

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.

Very rare 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; features ...