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At a glance

An inherited syndrome combining severe neurologic impairment, hepatic, and renal failure.

Synonyms

Meckel-like Syndrome; Meckel-like Cerebro-Reno-Digital Syndrome.

Incidence

Unknown. Approximately 10 cases have been described.

Genetic inheritance

Autosomal recessive inheritance. Genetic sequencing in patients with Meckel-Gruber Syndrome (MGS) or Cerebro-Reno-Digital Syndrome (CRDS) identified mutations in the CEP290 (Centrosomal Protein, 290-kD) gene on chromosome 12q21.32 and a phenotype overlapping Meckel-Gruber and Joubert Syndrome (JS) (and Smith-Lemli-Opitz Syndrome), demonstrating that MGS, JS, and CRDS are most likely variable expressions of the same ciliopathy.

Diagnosis

Based on the clinical findings.

Clinical aspects

This multipolar syndrome is frequently lethal in childhood. Central nervous system anomalies may consist of agenesis of the corpus callosum and cerebellar vermis, ☞Dandy-Walker Syndrome, occipital meningoencephalocele, seizures, hypertonia, ataxia, paraparesis/quadriparesis, profound mental retardation, and speech deficits. Head and neck features may be characterized by dolichocephaly, posterior cervical rachischisis, high forehead, low-set ears with abnormal helix, small nose with anteverted nares, downturned mouth, and high-vaulted, narrow palate. Ophthalmic anomalies may present as short palpebral fissures, ptosis, hypertelorism, nystagmus, strabismus, visual loss, and retinoschisis. Limb anomalies are common with bowing of the long bones (less in the upper than in the lower extremities), shortening of the tibiae and fibulae, bilateral clubfoot, postaxial polydactyly, and brachydactyly of the toes. Additional common features may include renal hypoplasia or cystic kidney dysplasia with renal failure, hepatic fibrosis or hepatic cystic dysplasia, and splenomegaly. Neonatal tachydyspnea was described in one case, but no cause was given.

Precautions before anesthesia

The features of facial dysmorphism appear to be rather mild, thus airway management is not a priori expected to be difficult, but thorough assessment is nevertheless required. Inquire about seizures and their control and optimize therapy if necessary. Preoperative blood work should include a complete blood count, serum electrolytes, creatinine, urea, and liver function tests with serum albumin concentration and coagulation parameters. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. Anticonvulsant therapy should be continued until the morning of surgery and resumed as soon as possible postoperatively and given intravenously if oral intake is not possible. Depending on the procedure, postoperative mechanical ventilation may be required and should be arranged beforehand.

Anesthetic considerations

The presence of an occipital meningoencephalocele will make regular positioning for intubation difficult or impossible, thus intubation in the (preferably left) lateral position will be required. Due to the possibility of additional cervical pathologies, a fiberoptic awake or asleep intubation should be considered in these cases to minimize neck movements and the risk for spinal cord injuries. The anesthetic management should take ...

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