Skip to Main Content

++

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

++

Meckel-like Syndrome.

++

Fewer than 10 cases have been described. Autosomal recessive inheritance.

++

The diagnosis is based on the clinical findings of cystic kidney dysplasia, fibrotic changes of the liver, and occipital encephalocele. Computed tomography scanning and/or magnetic resonance imaging reveals the other cerebral anomalies (see below in this section). This multipolar syndrome is lethal in childhood and involves the head and neck (low-set ears with abnormal helix, short palpebral fissures, small nose, anteverted nares, downturned mouth, high vaulted, narrow palate), the central nervous system (agenesis of the corpus callosum and cerebellar vermis, Dandy-Walker Malformation, occipital encephalocele, seizures, hypertonia, ataxia, paraparesis/quadriparesis, mental retardation, speech deficit), the eyes (ptosis, nystagmus, strabismus, visual loss, retinoschisis), and the limbs (polydactyly, brachydactyly of the toes). Other features may include renal hypoplasia, renal failure, hepatic fibrosis, and splenomegaly. The syndrome is basically a combination of the Smith-Lemli-Opitz syndrome and the Meckel-Gruber syndrome (MKS).

++

Renal and hepatic function should be fully assessed (complete blood count, serum concentrations of electrolytes, creatinine, blood urea nitrogen, transaminases, alkaline phosphatase, gamma-glutamyl transferase, bilirubin, albumin, and coagulation status). Consider alterations in drug efficacy (altered protein binding of the drug may result in increased free fraction of the drug) and metabolism. The presence of hydrocephalus with raised intracranial pressure should be determined because it may require special anesthetic management. Consider interaction between antiepileptic medications and anesthetic drugs.

++

Meckel-Gruber Syndrome: Genetic disorder with the main features being encephalocele, polydactyly, and polycystic kidneys, but with a wide phenotypic variation.

++

Smith-Lemli-Opitz Syndrome: A syndrome characterized by the inability to synthesize cholesterol. It presents with growth retardation, central nervous system anomalies (white matter), developmental delay, severe dysphagia, microcephaly, micrognathia, cleft palate, cataracts, ptosis, polysyndactyly and syndactyly of the second and third toes, and congenital heart defects (e.g., transposition of the great vessels). Congestive heart failure and liver failure are not uncommon.

Franceschini P, Licata D, Guala A, et al: Cerebro-reno-digital (Meckel-like) syndrome with limb malformations and acetabular spurs in two sibs: a new MCA syndrome? Am J Med Genet A 131:213, 2004.  [PubMed: 15389699]
Genuardi M, Dionisi-Vici C, Sabetta G, et al: Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. Am J Med Genet 47:50, 1993.  [PubMed: 8368252]
Lurie IW, Lazjuk GI, Korotkova IA, et al: The cerebro-reno-digital syndromes: A new community. Clin Genet 39:104, 1991.  [PubMed: 2015691]

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.