Clinical and MRI findings of cerebellar agenesis in two living adult patients.
Cerebellar agenesis (CA) is an extremely rare entity. We present two adult patients with CA. The 61-year-old man had ataxia, dysarthria, abnormalities in cerebellar tests, severe cognitive impairment, and moderate mental retardation. The 26-year-old woman had dysmetria, dysdiadochokinesia, and dysarthria as well as mild cognitive impairment and mild mental retardation. Magnetic resonance imaging (MRI) showed complete absence of the cerebellum with small residual vermis. Brainstem was hypoplastic and structures above tentorium were normal. Supratentorial white matter bundles were unaffected in diffusion tensor tractography. Only few adult patients with CA have so far been published. These cases show that patients with CA present with a variety of developmental, clinical, and mental abnormalities; and emphasize the role of the cerebellum in normal motor, language, and mental development.
Department of Radiology, İzmir Katip Çelebi University, Atatürk Training and Research Hospital, İzmir, Turkey.
Fazıl Mustafa
FM
Gelal
Department of Radiology, İzmir Katip Çelebi University, Atatürk Training and Research Hospital, İzmir, Turkey.
Tuğçe Özlem
TÖ
Kalaycı
Department of Neurology, İzmir Katip Çelebi University, Atatürk Training and Research Hospital, İzmir, Turkey.
Mehmet
M
Çelebisoy
Department of Radiology, İzmir Katip Çelebi University, Atatürk Training and Research Hospital, İzmir, Turkey.
Levent
L
Karakaş
Department of Radiology, İzmir Katip Çelebi University, Atatürk Training and Research Hospital, İzmir, Turkey.
Hülya Erdoğan
HE
Akkurt
Department of Ophthalmology, İzmir Katip Çelebi University, Atatürk Training and Research Hospital, İzmir, Turkey.
Feray
F
Koç
Cerebellar agenesis; diffusion tensor tractography; magnetic resonance imaging