Pontomedullary disconnection: fetal and neonatal considerations.
The cerebellar and pontocerebellar hypoplasias present a unique challenge when detected in the developing fetus. A diverse aetiology and prognosis make counselling of these families difficult. Advances in fetal imaging allow for more accurate diagnosis and counselling, but postnatal MRI is still required. A case is presented in which cerebellar hypoplasia was detected at 20 weeks gestation. Later fetal imaging provided further information, but a diagnosis of pontomedullary disconnection was not made until the postnatal MRI scan. The clinical findings and possible causes of such pontocerebellar abnormalities are discussed.
McCann
Emma
E
Department of Clinical Genetics, Royal Liverpool Children's Hospital, Eaton Road, Liverpool, L12 2AP, UK. emma.mccann@rlc.nhs.uk
Pilling
David
D
Hesseling
Markus
M
Roberts
Devender
D
Subhedar
Nim
N
Sweeney
Elizabeth
E
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008526:Medulla Oblongata / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011149:Pons / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011247:Pregnancy; D011859:Radiography; D016216:Ultrasonography, Prenatal