117,118 There may be a variety of associated brain malformations, including ventriculomegaly and abnormalities of the corpus callosum, brain stem, and cerebellum, although PMG is usually the isolated brain malformation. PMG may show a variety of histological patterns, but all show abnormal cortical lamination, excessive folding and fusion of adjacent gyri.65 Two main forms of PMG are described; unlayered Inhibitors,research,lifescience,medical and layered, the latter of which has been described as the “true” or “structured” PMG.119

Occasionally, both forms are found in the same patient, suggesting that they may be variations of the same malformation.120 Figure 8. MRI features of polymicrogyria. T1-weighted parasagittal image Inhibitors,research,lifescience,medical (left) of a patient with perisylvian polymicrogyria (PMG) showing an abnormally extended Sylvian fissure surrounded by overfolded gray matter with an irregular surface and stippling of the … The clinical sequelae of PMG are highly variable depending on

the extent and location of the PMG, the presence of other brain malformations, and the influence Inhibitors,research,lifescience,medical of complications such as epilepsy. In addition, PMG is reported as an occasional component, in multiple different syndromes or disorders including metabolic disorders, chromosome deletion syndromes, and multiple congenital anomaly syndromes. These patients may have a wide spectrum of clinical problems other than those attributable to the PMG. Some patients with PMG have fewer clinical problems than would be expected for the location and extent of Inhibitors,research,lifescience,medical cortex involved. Trie most, common form of PMG involves the perisylvian regions in a bilateral and symmetric pattern. The combination of bilateral perisylvian PMG (BPP) associated with oromotor dysfunction and a seizure disorder has been called the “congenital bilateral perisylvian syndrome,” and is the best described Ceritinib molecular weight syndrome with PMG. Detailed clinical data is published in over 50 patients with this distribution of PMG,121,122 with the first,

Inhibitors,research,lifescience,medical description appearing in the German pathological literature in 1905.123 Patients with BPP typically have oromotor dysfunction including difficulties with tongue (tongue protrusion and side to side movement), facial and pharyngeal motor function resulting in problems with speech production, sucking, and swallowing, excessive drooling, and facial diplegia. They may also have an expressive dysphasia in addition to dysarthria. More severely affected patients have minimal or no expressive speech, necessitating Oxalosuccinic acid the use of alternate methods of communication such as signing. On examination there is facial diplegia, limited tongue movement, a brisk jaw jerk, and frequent, absence of the gag reflex.121 In patients presenting in childhood there may be other abnormalities including arthrogryposis, hemiplegia, and hearing loss, although there is limited pediatric data available.124 There may be mild-to-moderate intellectual disability in up to 75% of cases.