Sensorimotor Neuropathy in a Patient with Marinesco-Sjögren Syndrome

Abstract

A case of Marinesco-Sjögren syndrome, displaying the characteristic signs (ataxia, congenital cataract and mental retardation) is presented. Electrophysiological examination pointed to the presence of a sensorimotor peripheral neuropathy with an underlying mixed process of segmental demyelination and axonal degeneration (probably secondary). The sural nerve and gastrocnemius biopsy confirmed these data, showing that in this case the segmental demyelination process was accompanied by axonal degeneration.

Marinesco–Sjögren syndrome in a male with mild dysmorphism

“…However, several patients with MSS have had elevated CK levels and myopathic features on muscle biopsy [Komiyama et al, 1989; McLaughlin et al, 1996]. Neurogenic muscular atrophy [Zimmer et al, 1992], demyelinating polyneuropathy [Zimmer et al, 1992; Müller‐Felber et al, 1998], and sensorimotor peripheral neuropathy with segmental demyelination [Alexianu et al, 1983] have also been observed. Muscle biopsies have revealed increased variation of fiber size with fiber‐type disproportion and scattered atrophic fibers, vacuolar degeneration of the muscle fibers, necrosis, and increased adipose tissue [Zimmer et al, 1992; Ishikawa et al, 1993; McLaughlin et al, 1995; Müller‐Felber et al, 1998].…”

“…We recorded the ophthalmological, neurological, and orthopedic manifestations together with developmental history, craniofacial dysmorphism, digital anomalies, and MRI scan findings. The cases reviewed were the following: Alter et al [1962] (4 cases); Skre and Berg [1977] (11 cases); Hakamada et al [1981] (1 case); Alexianu et al [1983] (1 case); Walker et al [1985] (4 cases); Herva et al [1987] (4 cases); Superneau et al [1987] (6 cases); Sewry et al [1988] (3 cases); Komiyama et al [1989] (4 cases); Bromberg et al [1990] (2 cases); Katafuchi et al [1990] (1 case); Tachi et al [1991] (1 case); Torbergsen et al [1991] (7 cases); Kodama et al [1992] (2 cases); Zimmer et al [1992] (6 cases); Ishikawa et al [1993] (1 case); Brogdon et al [1996] (9 cases); McLaughlin et al [1996] (3 cases); Williams et al [1996] (1 case); Farah et al [1997] (2 cases); Müller‐Felber et al [1998] (4 cases); Aguglia et al [2000] (2 cases); Reinker et al [2002] (2 cases). The case reports of Brogdon et al [1996] and Superneau et al [1987] appear to describe the same family, and the total number of patients counted from both reports was 9 rather than 15.…”

Neuropathy with Lysosomal Changes in Marinesco-Sjögren Syndrome: Fine Structural Findings in Skeletal Muscle and Conjunctiva

“…Skre et al also reported such a case with loss of anterior horn motoneurons (22). Another case with sensory peripheral neuropathy in a sural nerve with segmental demyelination and neurogenie atrophy of the quadriceps muscle was described by Alexianu et al (1). The data suggest that there are two variants of the syndrome, one with a myopathic and the other with a neurogenic type of lesion.…”

Genetic identity of Marinesco–Sjögren/myoglobinuria and CCFDN syndromes

“…Cataracts can be congenital 7,12,[17][18][20][21] or may develop at a later age with a variable rate of progression. Cataracts can be congenital 7,12,[17][18][20][21] or may develop at a later age with a variable rate of progression.…”