Mulibrey is an acronym for muscle, liver, brain, and eye. An
extremely rare inherited disorder characterized by 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 consequence is the presence of constrictive pericarditis in infancy.
Pulmonary effusion and ascites are present.
Perheentupa Syndrome; Constrictive Pericarditis-Dwarfism
Syndrome; Dwarfism-Pericarditis Syndrome; Growth Failure-Pericardial
Constriction Syndrome; Nanism-Constrictive Pericarditis Syndrome;
Pericardial Constriction-Growth Failure Syndrome.
Rare, familial, autosomal
recessive trait. Most reported cases are from Finland.
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. There are growth
and mental retardation and variable pubertal development with characteristic
high-pitched voice and hyperopia.
Check cardiac function (thick
adherent pericardium with constrictive pericarditis), pleural effusion, and
neurologic status (increased intracranial pressure as a consequence of
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. Possibility of diabetes
insipidus. Fragile teeth.
No specific pharmacological
implication unless the affected patient presents with constrictive
pericarditis, in which case any cardiopressive anesthetic agents must be
Balg S, Stengel-Rutkowski S, Dohlemann C, et al: Mulibrey nanism. Clin Dysmorphol
Lapunzina P: Mulibrey nanism: Three additional patients and a review of 39
patients. Am J Med Genet
Linpsayen-Nyman M, Perheentvpa J, Rapola J, et al: Mulibrey heart disease.
Clinical manifestations, long term course and results of pericardiectomy in
a series of 49 patients born before 1985. Circulation 107:2810, 2003.