Mulibrey Nanism

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.

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
• Face: 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, strabismus, astigmatism
• Abdomen: hepatomegaly (45%)
• Cardiovascular:
  • 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)

• Supportive
• Pericardiectomy: this usually provides clinical benefit, but 33% patients have recurring congestive heart failure, because of co-existing myocardial involvement⁵