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 a genetic abnormality which results in short stature.

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

• Growth failure of prenatal origin and congenital short stature.⁴
• 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 are present in 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%).

Wilm's Tumour
Cystic dysplasia of bone; usually the tibia

• Supportive
• Pericardiectomy; this usually provides clinical benefit, but 33% patients have recurring CHF, because of co-existing myocardial involvement.⁵