T2-hyperintense cerebellar cortex in Marinesco–Sjogren syndrome

Abstract

Hyperintensity of the cerebellar cortex on T2-weighted images is a rare finding and has been considered pathognomonic for infantile neuroaxonal dystrophy (INAD).1 However, we present three children with Marinesco–Sjogren syndrome (MSS; OMIM 248800) and hyperintense cerebellar cortex on MRI. Additional findings were widened cerebellar fissures, an enlarged fourth ventricle, reduced N -acetylaspartate, and elevated myo-inositol on 1H-MR spectroscopy (MRS) of the cerebellum. ### Patients. Patient 1 is the 5-year-old son of consanguineous parents; Patients 2 (girl, age 7 years) and 3 (boy, age 14 months) are siblings of nonconsanguineous parents. Hypotonia, developmental delay, strabismus, and short stature were present in all patients. Ataxia was present in Patients 1 and 2. Tendon reflexes were normal, and pyramidal tract signs were absent. Bilateral cataracts were diagnosed in Patient 1 (age 4.5 years) and Patient 2 (age 6.8 years). At age 14 months, cataracts had not yet developed in Patient 3. Serum creatine (Cr) kinase levels were normal in Patient 1 and slightly elevated in Patients 2 and 3. Extensive …