title: Autopsy case of later-onset pontocerebellar hypoplasia type 1: pontine atrophy and pyramidal tract involvement.
abstract: The combination of pontocerebellar hypoplasia and anterior horn cell degeneration is classified as pontocerebellar hypoplasia type 1. Although most cases exhibit severe muscle weakness and hypotonia neonatally with short life spans, some cases exhibit a later onset with a longer life span and show cerebellar atrophy without pontine involvement. We present a child who exhibited neurological deterioration and progressive atrophy of the cerebellum and pons, with onset of symptoms at 20 months and death at 15 years of age. The pathological findings disclosed anterior horn cell degeneration and pyramidal tract involvement in addition to pontocerebellar atrophy, leading to the diagnosis of pontocerebellar hypoplasia type 1. The present case suggests that the degenerative pattern of later-onset pontocerebellar hypoplasia type 1 is similar to that of prenatal-onset cases. Further reports of later-onset cases with histopathological examination are required to elucidate the nosology and etiology of the disorder.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan. sane26@pediatr.med.kyushu-u.ac.jp
authors.forename: Masafumi
authors.initials: M
authors.lastname: Sanefuji
authors.forename: Ryutaro
authors.initials: R
authors.lastname: Kira
authors.forename: Kenichi
authors.initials: K
authors.lastname: Matsumoto
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Gondo
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Torisu
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawakami
authors.forename: Toru
authors.initials: T
authors.lastname: Iwaki
authors.forename: Toshiro
authors.initials: T
authors.lastname: Hara
mesh_terms: D000293:Adolescent; D001284:Atrophy / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000473:pathology; D011149:Pons / Q000473:pathology*; D011712:Pyramidal Tracts / Q000473:pathology*