Mulibrey Nanism Syndrome

At a glance

Mulibrey is an acronym that stands for MUscle, LIver, BRain, and EYe. It is an extremely rare inherited disorder characterized by the presence of dwarfism and distinctive abnormalities of the muscles, liver, brain, and eyes. Characteristic symptoms include low birth weight, short stature, muscle hypotonia, hepatomegaly, and hydrocephalus. Infants typically have yellow discolorations in their eyes, amblyopia, and choriocapillaris hypoplasia. A serious complication is the presence of constrictive pericarditis in infancy. Pulmonary effusion and ascites are present.

Synonyms

Perheentupa Syndrome; Constrictive Pericarditis-Dwarfism Syndrome; Dwarfism-Pericarditis Syndrome; Growth Failure-Pericardial Constriction Syndrome; Nanism-Constrictive Pericarditis Syndrome; Pericardial Constriction-Growth Failure Syndrome.

Incidence

It is a very rare medical condition and the exact incidence remains unknown. Most of reported cases are from Finland. One hundred ten cases have been reported worldwide and 85 of them are Finnish.

Genetic inheritance

It is believed inherited as an autosomal recessive trait.

Clinical aspects

Prenatal-onset growth retardation associated with muscle, liver, brain, and eye abnormalities. Hypotonia; congestive pericarditis with elevated venous pressure; triangular face, often with hydrocephaloid skull; long and shallow sella turcica; yellowish dots and pigment dispersion in the fundus oculi; and borderline mental deficiency. There is a depressed and broad bridge of nose, delayed tooth eruption, malocclusion, hypodontia, and small tongue. Thin and short limbs and cystic dysplasia of the tibia and hypotonia are present. Nevus flammeus are present on the skin. Obstructive pericarditis, elevated venous pressure, prominent left atrium and/or right ventricle, dilated neck veins, and congestive heart failure. Hepatomegaly and abnormalities of kidneys and ureters are present. Neonatal pituitary insufficiency and neonatal hypoglycemia are often present. There are growth and mental retardation and variable pubertal development with characteristic high-pitched voice and hyperopia.

Precautions before anesthesia

Check cardiac function (thick adherent pericardium with constrictive pericarditis), pleural effusion, and neurologic status (increased intracranial pressure as a consequence of hydrocephalus).

Anesthetic considerations

Patients may have raised intracranial pressure as a consequence of hydrocephalus. They have a large head with prominent occiput and facial abnormalities, which may make direct laryngoscopy and tracheal intubation difficult. Obstructive pericarditis is likely, with elevated venous pressure, prominent left atrium or right ventricle, dilated neck veins, and congestive heart failure. Central venous and arterial pressure measurements are essential, with either pulmonary artery catheter or transesophageal echocardiography as needed. Pituitary disease may be associated with raised intracranial pressure; it also may have implications for thyroid and adrenal function. It is recommended to search for the possibility of diabetes insipidus. The presence of excessively fragile teeth may impact on the laryngoscopy.

Pharmacological implications

No specific pharmacological implication unless the affected patient presents with constrictive pericarditis, in ...