We describe a 20-year-old, non-Finnish man with Cohen syndrome (MIM: 216550). Besides the essential clinical and MR imaging findings including non-progressive psychomotor retardation, motor clumsiness, microcephaly, typical facial features, retinochoroidal dystrophy, myopia and thick corpus callosum, he also had infertility, pituitary hyperplasia and low-lying tentorium. No diffusion changes were recorded. MR spectroscopy (40 and 270 ms TE) revealed normal spectra.
BarkovichAJNormanD: Anomalies of the corpus callosum: Correlation with further anomalies of the brain. AJNR Am J Neuroradiol9: 487–491, 1988.
2.
KierELTruwitCL: The normal and abnormal genu of the corpus callosum: An evolutionary, embryologic, anatomic, and MR analysis. Am J Neuroradiol17: 1631–1641, 1996.
3.
Kivitie-KallioSAuttiTSalonenO: MRI of the brain in the Cohen syndrome: A relatively large corpus callosum in patients with mental retardation and microcephaly. Neuropediatrics29: 298–301, 1998.
4.
Gohlich-RatmannGBaethmannMLorenzP: Megalencephaly, mega corpus callosum, and complete lack of motor development: A previously undescribed syndrome. Am. J. Med. Genet79: 161–167, 1998.
5.
RypensFSonigoPAubryM-C: Prenatal MR diagnosis of a thick corpus callosum. Am J Roentgenol17: 1918–1920, 1996.
6.
Kivitie-KallioSEronenMLipsanen-NymanM: Cohen syndrome: Evaluation of its cardiac, endocrine and radiological features. Clin. Genet56: 41–50, 1999.
7.
Kivitie-KallioSNorioR: Cohen syndrome: Essential features, natural history, and heterogeneity. Am. J. Med. Genet102: 125–135, 2001.
8.
ChandlerKEKiddAAl-GazaliL: Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J. Med. Genet40: 233–241, 2003.
9.
KolehmainenJBlackGCMSaarinenA: Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am. J. Hum. Genet72: 1359–1369, 2003.
10.
HurmerintaKPirinenSKoveroO: Craniofacial features in Cohen syndrome: An anthropometric and cephalometric analysis of 14 patients. Clin. Genet62: 157–164, 2002.
11.
ElsterADChenMYWilliamsDW: Pituitary gland: MR imaging of physiologic hypertrophy in adolescence. Radiology174: 681–685, 1990.
12.
TakanoKUtsunomiyaHOnoH: Normal development of the pituitary gland: Assessment with three-dimensional MR volumetry. Am J Neuroradiol20: 312–315, 1990.
