From these results, the feasibility of the weekday-on/weekend-off schedule was judged to be good. It is suggested that the feasibility would be even better if the dose of UFT was set according to body surface area.

Key words congenital disorder of glycosylation, MOGS, whole exome sequencing. Congenital disorders of glycosylation (CDGs) are caused by deficient protein and lipid glycosylation. 1 Most CDGs are multisystem disorders. Mannosyl-oligosaccharide glucosidase congenital disorder of glycosylation (MOGS-CDG) is caused by recessive mutations in the mannosyl-oligosaccharide glucosidase I gene. Only six patients (from four families) have a d b c Fig. 1 (a) Clinical picture of the patient. (b) Echocardiogram of our patient revealed marked decrease in cardiac function. (c) Brain MRI scan, sagittal T1-weighted sequence displaying partial agenesis of the corpus callosum. (arrow) (d) Electropherogram shows novel compound heterozygous mutations in MOGS. Patient had compound heterozygous mutations: c.1483C>T nonsense mutation from the father and c.2255G>A missense mutation from the mother. (red arrows)

Infected cystic duplication of the duodenum is an unusual lesion. We report a case in which pre-operative MR imaging revealed a huge multicystic mass masquerading as a cystic lymphangioma or mesenteric cyst. The differential diagnosis of this unusual appearance is discussed.

Molecular studies revealed a heterozygous point mutation, S249C in the fibroblast growth factor receptor 3 gene. Most of the clinical course was similar to previous reports, including hearing loss and acanthosis nigricans. Abnormal urinary excretion of dicarboxylic acids and 3-hydroxydicarboxylic acids was observed. We hypothesize that this was a consequence of the FGFR3 mutation.

Objective A long-surviving thanatophoric dysplasia type I patient to age of 6 years is presented. Results and Conclusions Molecular studies revealed a heterozygous point mutation, S249C in the fibroblast growth factor receptor 3 gene. Most of the clinical course was similar to previous reports, including hearing loss and acanthosis nigricans. Abnormal urinary excretion of dicarboxylic acids and 3-hydroxydicarboxylic acids was observed. We hypothesize that this was a consequence of the FGFR3 mutation.