MR imaging features in Marinesco-Sjögren syndrome: severe cerebellar atrophy is not an obligatory finding.

BACKGROUND AND PURPOSE Cerebellar atrophy is considered the most prominent neuroradiologic finding in Marinesco-Sjögren syndrome (MSS). Our purpose was to investigate this neuroradiologic feature in a series of patients with MSS. METHODS Five patients with MSS (age range, 5-19 years) underwent native MR imaging of the brain. The findings were assessed with particular attention to the cerebellum and the supratentorial structures. RESULTS Only two patients had slight cerebellar atrophy; the cerebellum was normal in size and configuration in the other patients. Additional supratentorial findings were present in some of the patients, with an apparently small anterior pituitary gland in two and the absence of the posterior pituitary bright spot in three of the patients. CONCLUSION Cerebellar atrophy is not an obligatory finding in MSS, and almost normal cranial MR imaging results are compatible with the diagnosis. Morphologic changes of the pituitary gland seem to be common in patients with MSS and are not associated with endocrine dysfunction.

[1]  J. Hallmayer,et al.  Genetic identity of Marinesco–Sjögren/myoglobinuria and CCFDN syndromes , 2002, Neurology.

[2]  F. Cavalcanti,et al.  Vitamin E deficiency due to chylomicron retention disease in Marinesco‐Sjögren syndrome , 2000, Annals of neurology.

[3]  L. Kalaydjieva,et al.  Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter , 1999, European Journal of Human Genetics.

[4]  L. Kalaydjieva,et al.  Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations , 1999, Annals of neurology.

[5]  M. Toepfer,et al.  Marinesco Sjögren syndrome with rhabdomyolysis. A new subtype of the disease. , 1998, Neuropediatrics.

[6]  B. Georgy,et al.  Neuroradiologic findings in Marinesco-Sjögren syndrome. , 1998, AJNR. American journal of neuroradiology.

[7]  S. Al‐Awadi,et al.  Marinesco‐Sjögren syndrome in a Bedouin family , 1997, Acta neurologica Scandinavica.

[8]  T. Matsuishi,et al.  MARINESCO‐SJOGREN SYNDROME: CAN THE DIAGNOSIS BE MADE PRIOR TO CATARACT FORMATION? , 1997, Muscle & nerve.

[9]  E. Weinberger,et al.  Marinesco‐Sjdgren Syndrome: Clinical and Magnetic Resonance Imaging Features in Three Children , 1996, Developmental medicine and child neurology.

[10]  H. Matsuda,et al.  Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome , 1996, Brain and Development.

[11]  N. Tachi,et al.  Muscle pathology in Marinesco-Sjo¨gren syndrome: a unique ultrastructural feature , 1996, Brain and Development.

[12]  J. Buchhalter,et al.  Cerebellar dysplasia and unilateral cataract in Marinesco-Sjögren syndrome. , 1996, Pediatric neurology.

[13]  I. Nonaka,et al.  Rapid cataract formation in Marinesco-Sjögren syndrome. , 1993, Pediatric neurology.

[14]  D. Finegold,et al.  Pituitary stalk and ectopic hyperintense T1 signal on magnetic resonance imaging. Implications for anterior pituitary dysfunction. , 1993, American journal of diseases of children.

[15]  G. Guazzi,et al.  Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families. , 1993, Ophthalmic paediatrics and genetics.

[16]  J. Cervós-Navarro,et al.  Neuropathy with lysosomal changes in Marinesco-Sjögren syndrome: fine structural findings in skeletal muscle and conjunctiva. , 1992, Neuropediatrics.

[17]  E. Stålberg,et al.  Myopathy in Marinesco‐Sjögren syndrome: an electrophysiological study , 1991, Acta neurologica Scandinavica.

[18]  S. Boulware,et al.  Idiopathic growth hormone deficiency: MR findings in 35 patients. , 1991, AJNR. American journal of neuroradiology.

[19]  S. Gilman,et al.  The Marinesco-Sjögren syndrome examined by computed tomography, magnetic resonance, and 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography. , 1990, Archives of neurology.

[20]  I. Nonaka,et al.  Cerebral cortex and brainstem involvement in marinesco‐sjögren syndrome , 1990, Annals of neurology.

[21]  K. Hirayama,et al.  Muscle pathology in Marinesco-Sjögren syndrome , 1989, Journal of the Neurological Sciences.

[22]  F. Bastian,et al.  Myopathy in Marinesco-Sjogren syndrome. , 1987, European neurology.

[23]  M. Blitzer,et al.  Marinesco‐Sjögren syndrome , 1985, Neurology.

[24]  G. Sobue,et al.  Peripheral neuropathy in Marinesco-Sjögren syndrome , 1981, Brain and Development.

[25]  T. Sjögren.  Hereditary Congenital Spinocerebellar Ataxia Accompanied by Congenital Cataract and Oligophrenia , 1949 .