Leucodystrophies are a group of white matter diseases caused by an abnormality in the formation or maintenance of one or more components of the myelin sheath. The devastating course of the disease coupled with the lack of any defi nitive treatment render them potentially fatal and incurable. Van der Knaap Syndrome, also known as megaloencephalic leucoencephalopathy with subcortical cyst, is a relatively new and rare entity. Although reported sporadically from Europe, Asia and the Agarwal community in India, there is practically no case report from the eastern part of India. We present a case of van der Knaap syndrome in an adult female with some atypical features.

BACKGROUND/AIMS: Aberrant crypt foci (ACF) are early microscopic lesions of the colonic mucosa, which can be detected by magnified chromoendoscopy. Herein, we have investigated whether ACF identified in different clinical groups can be differentiated based on their characteristics. METHODS: Macroscopically unremarkable mucosal flaps were collected from 270 fresh colectomies and divided into 3 clinical groups: colorectal carcinoma (group A), disease controls having known pre-neoplastic potential (group Bc), and disease controls without risk of carcinoma development (group Bn). Topographic and histologic analysis, immunohistochemistry, and molecular studies (high-resolution melt curve analysis, real-time polymerase chain reaction, and Sanger sequencing) were conducted for certain neoplasia-associated markers. RESULTS: ACF were seen in 107 cases, out of which 72 were left colonic ACF and 35 right colonic ACF (67.2% vs. 32.7%, P=0.02). The overall density of left colonic ACF was 0.97/cm, which was greater than the right colonic ACF density of 0.81/cm. Hypercrinia was present in 41 out of 72 left colonic ACF and in 14 out of 35 right colonic ACF (P=0.01). Immunohistochemical expression of p53 was also greater in left colonic ACF than in right colonic ACF (60.5% vs. 38.2%, P=0.03). However, ACF identified among the 3 clinical groups did not show any distinguishing topographic, histological, or genetic changes. CONCLUSIONS: Left colonic ACF appear to be high-risk based on their morphological and prototypic tumor marker signature. ACF identified in different clinical groups do not show significant genotypic or topographic differences. Further detailed genetic studies are required to elucidate them further.
Aberrant Crypt Foci ; Colectomy ; Colon ; Colorectal Neoplasms ; Humans ; Immunohistochemistry ; Mucous Membrane ; Real-Time Polymerase Chain Reaction