[MIM 253 250]

(Perheentupa syndrome, pericardial constriction-growth failure syndrome)

Acronym for MUscle, LIver, BRain, EYe.

Unknown prevalence: most common in Finland. Autosomal recessive transmission of mutations of the gene TRIM37 (17q22 - q23) coding peroxysomal TRIM37 protein the function of which is unknown. Growth retardation beginning in the prenatal period associated with various organs abnormalities. Major clinical signs:

-        pre and post-natal growth failure (>-1.5 to 2 SD below the average for age) that gets worse after birth

-        progressive constrictive pericarditis

-        thin long bones with a thick cortex and narrow intraosseous cavities (93%)

-        J-shaped sella turcica at X-ray (89%),

-        characteristic facial dysmorphism: scaphocephaly, triangular face, high and broad forehead, broad and flat root of the nose, hypertelorism, small teeth

-        peripheral yellowish spots on the retina (79%).

Minor diagnostic criteria include a characteristic high-pitched voice (96%), hepatomegaly (70%), muscle hypotonia (60%), and cutaneous naevi flammei (65%), lumbar lordosis, very thin ribs, and fibrous dysplasia of long bones (25%) (tibia). To establish the diagnosis, three major signs  or two major signs and three minor signs must be present. Overall, the psychomotor development is normal. Constrictive pericarditis (18%) is the most serious anomaly of the disease: it often requires a pericardectomy. Feeding difficulties are already present in the neonatal period, persist later and require feeding by gastrostomy or gastric tube. Pneumonia and recurrent respiratory infections are the most common problems in early childhood. Increased risk of developing a  Wilms tumor (7%) and women have a higher risk of developing ovarian fibrothecomas. Women present an early ovarian failure and remain sterile.

Most of the patients develop severe resistance to insulin and an early metabolic syndrome in adolescence. A few cases of surrenal hypoplasia with poor adaptation to stress have been described.

Detection and early management of feeding and respiratory and pericardial (pericardectomy) disorders  are most important. Growth hormone treatment is efficient in the short term, but its effectiveness on long-term growth is modest. Glucose metabolism must be controlled from adolescence, and, after puberty, girls and women need regular gynecological follow-up.

Anesthetic implications: 

echocardiography to detect the signs of pericarditis (prominent jugular, hepatomegaly); risk of difficult intubation; fragile teeth; give a supplement of hydrocortisone in case of  hypotension unresponsive to fluids and vasopressors.

References:

-        Karlberg N, Jalanko H, Perheentupa J, Lipsanen-Nyman M.
Mulibrey nanism : clinical features and diagnostic criteria.
J Med Genet 2004; 41: 92-8

-        Edery P.
Syndromes génétiques avec retard statural.
In Syndromes dysmorphiques, éd D. Lacome et N. Philip, Doin 2013, p 67-82.

Updated: September 2016