Skip to Main Content

Inherited disorder characterized by excessive growth prenatally and postnatally manifesting with macrocephaly and scaphocephaly with normal intelligence or mild mental retardation and multiple hamartomas (lipomas, intestinal polyps). As affected infants age, the growth rate slows down and commonly results in normal adult height.

Bannayan-Riley-Ruvalcaba Syndrome; Ruvalcaba-Myhre-Smith Syndrome.

Unknown, but several case reports exist.

Presumed autosomal dominant inheritance with male predominance (up to 80% of cases). Variability in the severity of the condition in affected individuals suggests allelic mutations or possible genetic heterogeneity. The gene for Bannayan-Zonana syndrome has been localized to the q22-23 region within the PTEN (phosphate and tensin) homologue locus of chromosome 10. The Bannayan-Zonana syndrome should be unified into a single entity with other similar, previously considered separate syndromes, namely, Riley-Smith, Ruvalcaba, Cowden, and Lhermitte-Duclos. Clinical and molecular data support the unification with the proposed new nomenclature PTEN-MATCHS syndrome.

Multiple hamartomas with various angiomatous, lymphangiomatous, and lipomatous constituents. Muscle biopsy demonstrates a lipid storage myopathy with increased depositions of lipid droplets in type I fibers. Type II fibers are smaller than normal. Lipid myopathy may result from a defect in long-chain fatty acid oxidation, which is caused by a deficiency of long-chain L-3-hydroxyacyl-CoA dehydrogenase.

Clinical features and muscle biopsy. Electromyography is consistent with a myopathic condition.

Increased birth weight (>4 kg [8.8 lb]) and length (>97th percentile), with normal adult height are typical. Macrocephaly, macroencephaly, scaphocephaly, and delayed closure of fontanelles. Intracranial manifestations include increased incidence of intracranial tumors, hemangiomas, arteriovenous malformations, hemorrhage, and seizure activity. Extracranial arteriovenous malformations occur. Delayed psychomotor development with dyscoordination, myopathy, and hypotonia. Intelligence may be normal or mildly retarded. Increased salivation and drooling. Ophthalmologic features consist of strabismus (exotropia), hypertelorism, and pseudopapilledema. High-arched palate. Hashimoto thyroiditis has been reported in affected individuals. Pectus excavatum. Juvenile intestinal polyposis with increased risk of intussusception. Protein-losing enteropathy and hepatomegaly may occur. Intestinal and skin lipomas tend to regress with age. Thumbs and great toes are broad (clubbing). Skin manifestations include hemangiomas, multiple lipomas, telangiectases, café-au-lait spots, facial acanthosis nigricans-like discoloration, and cutis marmorata. Penis may be enlarged with spotted pigmentation of the glans. Thyroid and breast tumors may be malignant.

Detailed clinical history and examination to evaluate the extent of systemic involvement: neurologic status, intracranial pathology (tumor, hemangiomata), signs of increased intracranial pressure, seizures (anticonvulsant therapy), and mental retardation (sedative premedication may be valuable in the absence of increased intracranial pressure); cardiovascular status (heart failure secondary to arteriovenous malformation, heart failure medication); and respiratory status (myopathy, hypotonia, degree of pectus excavatum, potential respiratory compromise). Evaluate the airway for potential difficulties (high-arched palate, macrocephaly). Anticholinergic premedication may be beneficial if salivation is excessive. Obtain blood work with complete blood count, electrolytes, urea, liver function tests, and thyroid function tests.

If difficult airway management is anticipated, an awake fiberoptic tracheal intubation (mental retardation may reduce cooperation) or inhalational ...

Pop-up div Successfully Displayed

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