Synonyms: muscle-liver-brain-eye nanism, pericardial constriction and growth failure, Perheentupa syndrome¹

This is a rare autosomal recessive disorder caused by a mutation in a gene on chromosome 17.² The name Mulibrey is an acronym:

• MU scle

• LI ver

• BR ain

• EY es

Nanism is defined as a genetic abnormality which results in short stature.

Caratteristiche cliniche

Feeding difficulties and respiratory tract infections are the most common problems in infancy.³

• Growth failure of prenatal origin and congenital short stature⁴

• Hydrocephaloid skull

• Hypotonia

• Cutaneous naevi flammei (65%)

• Peculiar high pitched voice (96%)

• Normal intelligence

• Volto: scaphocephaly, triangular face, high and broad forehead, high palate, small chin and low nasal bridge (over 90% of patients)

• Eyes: widely-spaced, fundi showing yellow dots and dispersed pigment, hypoplasia of the choroid, strabismo, astigmatismo

• Abdomen: hepatomegaly (45%)

• Cardiovascolare:
  

  • Most cases show pericardial constriction due to thickening of the pericardium.

  • Myocardial hypertrophy, and variable myocardial fibrosis are also seen.

  • At least 50% of patients eventually develop heart failure.

• Fibrous dysplasia of long bones (25%)

Wilms' tumour Cystic dysplasia of bone (usually the tibia)

• Supportivo

• Pericardiectomy: this usually provides clinical benefit, but 33% patients have recurring scompenso cardiaco congestizio, because of co-existing myocardial involvement⁵