Pontine hypoplasia in 5p-syndrome: A key MRI finding for a diagnosis.
A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypoplasia should be asked about a history of a high-pitched cry in infancy so as not to miss this syndrome.
Ninchoji
Takeshi
T
Department of Pediatrics, Kameda Medical Center, Kamogawa-shi, Chiba 296-8602, Japan.
Takanashi
Jun-ichi
J
D002675:Child, Preschool; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D011149:Pons / Q000473:pathology*