Ferrer I, Campistol J, Tobeña L, Cusí V, Galofré E, Prat J
Departamento de Anatomía Patológica, Hospital Príncipes de España, Universidad de Barcelona, Spain.
J Neurol. 1987 Aug;234(6):416-20. doi: 10.1007/BF00314088.
During the first year of life a girl, the first child of non-consanguineous parents, developed a progressive neurological disease characterized by blindness, severe hypotonia, impaired motor development, microcephaly and mental retardation. Later she became unresponsive to auditory stimuli. She died at the age of 13 months. Post-mortem examination revealed atrophy of the optic nerves and chiasm, lateral geniculate nuclei and superior colliculi, degeneration of the cochlear nerve roots, dorsal and ventral cochlear nuclei, superior olives, lateral lemnisci, medial geniculate nuclei and inferior colliculi and atrophy of the dentate nuclei, hilus and superior cerebellar peduncles. These were consistent with dégénérescence systématisée optico-cochleéo-dentelée. Additional abnormalities included degeneration of the posterior columns in the spinal cord, gracilis and cuneate nuclei and medial lemnisci, atrophy of the spinocerebellar tracts and Clarke's columns, cerebral cortex, cerebellum, chiefly involving the rostral vermis, inferior olivary nuclei and demyelination of the sural nerves.
一名女孩，其父母非近亲结婚，在出生后的第一年患上了一种进行性神经疾病，表现为失明、严重肌张力减退、运动发育受损、小头畸形和智力迟钝。后来她对听觉刺激无反应。她于13个月大时死亡。尸检显示视神经和视交叉、外侧膝状体核和上丘萎缩，耳蜗神经根、背侧和腹侧耳蜗核、上橄榄核、外侧丘系、内侧膝状体核和下丘变性，齿状核、门部和上小脑脚萎缩。这些与系统性视神经 - 耳蜗 - 齿状核退变相符。其他异常包括脊髓后索、薄束核和楔束核以及内侧丘系变性，脊髓小脑束和克拉克柱萎缩，大脑皮质、小脑（主要累及嘴侧蚓部）、下橄榄核萎缩以及腓肠神经脱髓鞘。
