Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome

Clin Dysmorphol. 2011 Jul;20(3):166-167. doi: 10.1097/MCD.0b013e32834659a8.

Authors

Yoko Narumi¹, Takashi Shiihara, Hiroshi Yoshihashi, Satoru Sakazume, Marjo S van der Knaap, Akira Nishimura-Tadaki, Naomichi Matsumoto, Yoshimitsu Fukushima

Affiliation

¹ Division of Medical Genetics Division of Neurology, Gunma Children's Medical Center, Shibukawa Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

PMID: 21471810
DOI: 10.1097/MCD.0b013e32834659a8

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Atrophy / complications*
Basal Ganglia / pathology*
Brain Diseases / diagnosis*
Brain Diseases / pathology*
Cerebellum / pathology*
Dantrolene / therapeutic use
Down Syndrome / complications*
Down Syndrome / diagnosis
Down Syndrome / drug therapy
Down Syndrome / genetics
Down Syndrome / pathology*
Humans
Infant
Magnetic Resonance Imaging
Male
Muscle Relaxants, Central / therapeutic use
Phenotype
Treatment Outcome

Substances

Muscle Relaxants, Central
Dantrolene