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Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia
Author(s) -
Grosso Salvatore,
Farnetani Maria Angela,
Berardi Rosario,
Bartalini Gabriella,
Carpentieri Marilisa,
Galluzzi Paolo,
Mostardini Rosa,
Morgese Guido,
Balestri Paolo
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10171
Subject(s) - dysgenesis , temporal lobe , white matter , anatomy , pathology , epilepsy , medicine , lobe , magnetic resonance imaging , neuroscience , biology , radiology
Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. FGFR3 is known to play a role in controlling nervous system development. We describe the clinical and neuroradiological findings of the first two patients, to our knowledge, affected by HCH and MS, respectively, in whom bilateral dysgenesis of the medial temporal lobe structures has been observed. In both patients diagnosis was confirmed by molecular analysis. They were mentally normal and showed similarities in early‐onset temporal lobe‐related seizures. In both patients EEG recorded bilateral temporal region discharges. MRI detected temporal lobe anomalies with inadequate differentiation between white and gray matter, defective gyri, and abnormally shaped hippocampus. © 2003 Wiley‐Liss, Inc.