Very rare genetic disorder characterized by the
association of cerebellar ataxia with postnatal congenital cataracts,
delayed mental and physical development (spasticity), very small stature,
and hypotonia. The designation “hereditary oligophrenic cerebellolental
degeneration" has been suggested.
Marinesco-Garland Syndrome; Marinesco-Sjögren-Garland
Syndrome; Marinesco-Sjögren-Garland Myopathy;
Marinesco-Sjögren-Garland Neuropathy; Moravcsik-Marinesco-Sjögren
Syndrome; Hereditary Oligophrenic Cerebellolental Degeneration.
Approximately 100 cases have been described worldwide.
It occurs more often in Italy, Scandinavia, and part of Alabama in the
It could be a lysosomal disease. Electronic
microscopy demonstrates vacuolization with myeloid bodies derived from the
dense sarcoplasmic reticulum.
Clinical examination and MRI picture of cerebellar
cortical atrophy; conjunctival biopsy shows marked increase in the number of
lysosomes in the fibroblasts.
Microcephaly with congenital cataracts; often
strabismus or nystagmus. Cerebellar ataxia with dysarthria. Hypotonia with
progressive muscle weakness of neurogenic origin. Short stature with
kyphoscoliosis and contractures.
Assessment of residual muscular
power; chest radiograph: scoliosis, infection.
Kyphoscoliosis and contractures make
positioning difficult. Increased risk of postoperative pulmonary
Succinylcholine should be used with
extreme caution or not at all in presence of severe myopathy.
Friedreich Ataxia (FRDA): Characterized by slow degenerative changes of
the central nervous system that affect coordination of the muscles in the
limbs. Dysarthria, hypotonia, and/or hypertonia (spasticity) in the arms and
legs are pathognomonic features. It is inherited as an autosomal recessive
trait, although it does not manifest clinically during infancy.
Lowe Syndrome: Characterized by hydrophthalmia, congenital
cataract, glaucoma, mental retardation, vitamin D-resistant rickets, and
aminoaciduria. It affects only males with fair complexion.
Hyperextensibility of the joints, hypotonic (floppy) muscles, and absence of
muscle reflex are classic features. Other clinical features include bowed
legs, hypogonadism, excess fatty tissue, and wide-ranging weight
Louis-Bar Syndrome: Inherited progressive form of cerebellar
ataxia that usually begins during infancy. The clinical features include
progressive loss of coordination in the limbs, head, and eyes and recurrent
systemic infection because of immunologic dysfunction. It is inherited as an
autosomal recessive trait.
Merlini L, Gooding R, Lochmüller H, et al: Genetic identity of
Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. Neurology
Tachi N, Nagata N, Wakai S, et al: Congenital muscular dystrophy in
Marinesco-Sjögren syndrome. Pediatr Neurol