Delayed gyration with pontocerebellar hypoplasia type 1.
We report two sibling cases of pontocerebellar hypoplasia type 1 (PCH-1), which showed severe generalized hypotonia, psychomotor delay, and visual impairment. Magnetic resonance imaging in the neonatal period revealed delayed gyration compared to the postconceptional ages in both cases. The elder brother died with pneumonia at 10months of age, and the younger brother survived to over 6years of age. Repeated neuroimaging in the younger brother revealed improvement of the delayed gyration and progressive atrophy, not only in the pons and cerebellum, but also in the cerebrum. To the best of our knowledge, this is the first report of delayed gyration in PCH-1.
Okanishi
Tohru
T
Department of Pediatrics, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan. oknsoknsokns@yahoo.co.jp
Mori
Yuka
Y
Shirai
Kenji
K
Kobayashi
Satoru
S
Nakashima
Hideyuki
H
Kibe
Tetsuya
T
Yokochi
Kenji
K
Togari
Hajime
H
Nonaka
Ikuya
I
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002874:Chromosome Mapping / Q000379:methods; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000150:complications* / Q000473:pathology*; D035781:Siblings