Cerebellar hypoplasia in Werdnig Hoffmann disease

A. G. Weinberg, J. B. Kirkpatrick

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

The case of an infant with Werdnig Hoffmann disease, who died at the age of 4 1/2 days, is reported. At autopsy significant abnormalities were confined to the nervous and musculoskeletal systems. All other organs were consistent with a term gestation, both by weight and microscopic appearance. The muscle fibers were reddish tan in color and delicate. Microscopic examination revealed marked neurogenic atrophy. The anterior roots of the spinal cord were half the diameter of the dorsal roots, and showed a moderate loss of neurons. Many of the others were either pyknotic or enlarged, with pronounced chromatolysis. This was associated with prominent gliosis. Prior to fixation the brain weighed 350 g. The cerebral hemispheres appeared normal in size and configuration, but the cerebellum and pons were atrophic. Cerebellar atrophy was most advanced in the hemispheres laterally, but also involved the vermis. Both zones contained approximately 15 convolutions. The cortex appeared simplified in sagittal section. The broad, flattened, gyri contained some Purkinje cells but at the depths of many sulci the entire cortex was absent. Gliosis was present, especially in the Bergmann zone. Rare dysplastic foci consisting of Purkinje cells randomly dispersed in the granular layer were present near the roof of the 4th ventricle. Of the deep nuclei, only rare surviving neurons could be identified. The pontine nuclei were reduced to less than half the normal population. The inferior olive had lost many neurons. Gliosis was present in the medulla, especially near the midline. The cerebral cortex, thalamus, basal ganglia and long myelinated tracts appeared normal, both grossly and microscopically. This case supports the concept that cerebellar hypoplasia may develop as a manifestation of the neuronal abiotrophy of Werdnig Hoffmann disease. Some similarity was noted between the cerebellar lesions described and those produced by viral infection in experimental animals.

Original languageEnglish (US)
Pages (from-to)511-516
Number of pages6
JournalDevelopmental Medicine and Child Neurology
Volume17
Issue number4
StatePublished - 1975

Fingerprint

Spinal Muscular Atrophies of Childhood
Gliosis
Purkinje Cells
Neurons
Atrophy
Fourth Ventricle
Musculoskeletal System
Pons
Spinal Nerve Roots
Cerebrum
Virus Diseases
Basal Ganglia
Thalamus
Cerebral Cortex
Cerebellum
Nervous System
Autopsy
Spinal Cord
Color
Weights and Measures

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neuroscience(all)

Cite this

Weinberg, A. G., & Kirkpatrick, J. B. (1975). Cerebellar hypoplasia in Werdnig Hoffmann disease. Developmental Medicine and Child Neurology, 17(4), 511-516.

Cerebellar hypoplasia in Werdnig Hoffmann disease. / Weinberg, A. G.; Kirkpatrick, J. B.

In: Developmental Medicine and Child Neurology, Vol. 17, No. 4, 1975, p. 511-516.

Research output: Contribution to journalArticle

Weinberg, AG & Kirkpatrick, JB 1975, 'Cerebellar hypoplasia in Werdnig Hoffmann disease', Developmental Medicine and Child Neurology, vol. 17, no. 4, pp. 511-516.
Weinberg, A. G. ; Kirkpatrick, J. B. / Cerebellar hypoplasia in Werdnig Hoffmann disease. In: Developmental Medicine and Child Neurology. 1975 ; Vol. 17, No. 4. pp. 511-516.
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