Marinesco-Sjögren syndrome: a case report

*Correspondence: [e-mail].

Abstract

Case Presentation: We describe a 9-year-old female child, referred to a tertiary medical center to investigate delay in neuropsychomotor development. Child born from a consanguineous couple, without any report of complications during the gestational and perinatal period. Since her first months of life, strabismus and nystagmus were observed. At 4 months of age, no cephalic support was observed, and presented delay in all posterior milestones, being able to walk with support at 2 years and since then, she did not develop independent gait so far. Neurological examination revealed microcephaly, dysmorphisms such as synophrys, small nose, high palate, flat feet, multidirectional nystagmus, bilateral convergent strabismus and dysarthria. Cerebellar gait, trunk-limb dyssynergy were part of global ataxia observed. During the first years of life, she presented global hypotonia but improved this symptom. Cataract was detected at 4 years of age. She also has learning difficulties, without acquiring the ability to read and write. Complementary exams showed an increase in CPK of 370 and magnetic resonance demonstrated volumetric reduction of cerebellar parenchyma, atrophic vermis, diffuse enlargement of the CSF spaces and posterior cranial fossa, as of fourth ventricle, and coexistence of T2-weighted and FLAIR signal of the cerebellar cortex. Initial investigation for recessive ataxias did not present additional information. New generation sequencing identified pathogenic variant in the SIL1 gene, in homozygosity.

Discussion: We aimed to describe a case report of Marinesco-Sjögren Syndrome. It is a rare autosomal recessive disease, included in ataxia recessive group. A few cases described in the literature, prevalence estimated is less than 1 per million people. The syndrome is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early onset of cataracts, myopathy and muscle weakness, in addition to hypotonia. Additional findings also include delay in neuropsychomotor development, hypergonadotropic hypogonadism, short stature and skeletal abnormalities. Cataracts can develop quickly and usually require surgery in the first decade of life.

Final Comments: Diagnosis is concluded with detection of pathogenic variants in the SIL1 gene detected by molecular tests in homozygosity. Therapeutic management is primarily supportive and rehabilitative for neurological symptoms. Surgery may be required for cataracts, and hormone replacement therapy for hypothalamic-pituitary axis disorders.

Publication History

Article published online:
12 May 2025