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At a glance

It is a very rare genetic disorder characterized by the association of cerebellar ataxia with postnatal congenital cataracts, delayed mental and physical development (spasticity), very small stature, myotonia, and hypotonia. The designation “hereditary oligophrenic cerebellolental degeneration” has been suggested.


Marinesco-Garland Syndrome; Garland-Moorhouse Syndrome; Marinesco-Sjögren-Garland Syndrome; Marinesco-Sjögren-Garland Myopathy; Marinesco-Sjögren-Garland Neuropathy; Moravcsik-Marinesco-Sjögren Syndrome; Hereditary Oligophrenic Cerebellolental Degeneration Syndrome; Torsten’s Syndrome; Torsten Sjögren’s Syndrome.


This medical condition was first described in 1904 in the Hungarian Medical Journal by Gheorghe Marinescu (1863-1938). Subsequently, Karl Gustav Torsten Sjögren (1896-1974) extended the description of the disease. In 1953, Doreen Moorhouse (1925-1995) published an important report about a 5-year-old boy affected with the disease.


Approximately 200 cases have been described worldwide. It occurs more often in Italy, Scandinavia, and part of Alabama in the United States. It affects males and females in equal numbers. The exact incidence in the general population remains unknown. It is panethnic.

Genetic inheritance

It is believed inherited as an autosomal recessive trait. Mutations in the SIL1 gene have been reported.


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 and cerebellar vermis. Conjunctival biopsy and muscle biopsy shows marked increase in the number of lysosomes in the fibroblasts.

Clinical aspects

The association of microcephaly and congenital cataracts is highly suggestive of the disease. The presence of strabismus and/or nystagmus is often seen. Cerebellar ataxia with dysarthria is a characteristic. The presence of hypotonia with progressive muscle weakness (myotonia) is believed to be from neurogenic origin. Short stature, kyphoscoliosis, and joint contractures complete the diagnosis.

Precautions before anesthesia

Assessment of residual muscular power; chest radiograph: scoliosis, infection.

Anesthetic considerations

Kyphoscoliosis and contractures make positioning difficult. There is a potential increased risk of postoperative pulmonary complications.

Pharmacological implications

Succinylcholine should be used with extreme caution or not at all in presence of severe myopathy.

Other conditions to be considered

  • CCFDN Syndrome: An acronym that stands for Congenital Cataracts, Facial, Dysmorphism, and Neuropathy (CCFDN) Syndrome. It is an extremely rare genetic disorder that resembles much the signs and symptoms of Marinesco-Sjögren Syndrome. The clinical features include cerebellar ataxia, cataracts, myopathy, skeletal malformations, short stature, and developmental delays. Also, individuals affected with CCFDN present with symptoms not associated with Marinesco-Sjögren Syndrome. It includes peripheral neuropathy, microcornea, and facial ...

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