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.
Y-graft replacement was successfully performed in a patient aged 93 years with ruptured infrarenal abdominal aortic aneurysm. The patient was in shock on arrival and underwent an emergency operation with the administration of cathecholamines. The ruptured infrarenal abdominal aortic aneurysm with a large hematoma, which was located in the area of the left common iliac artery, was 10cm in the maximum diameter. The bilateral common iliac arteries were strongly calcified and occluded. The distal end of the graft was anastomosed to the external iliac artery. The patient's postoperative course was uneventful.
Patient: Female, 4-year-old
Final Diagnosis: Pfeiffer syndrome
Symptoms: Craniosynostosis • tracheal cartilage sleeves
Medication: —
Clinical Procedure: —
Specialty: Pathology • Pediatrics and Neonatology
Objective:
Rare disease
Background:
Pfeiffer syndrome (PS) is a fibroblast growth factor receptor (
FGFR
)-associated craniosynostosis syndrome, characterized by abnormally broad and medially deviated thumbs and great toes. Tracheal cartilage sleeve (TCS) is associated with several
FGFR
-associated craniosynostosis syndromes, including PS. TCS is an airway malformation in which the tracheal cartilage rings fuse with each other to form a sleeve of cartilage.
Case Report:
The patient was a 4-year-old girl with PS, TCS, and abnormal hyperplasia of non-fused intrapulmonary cartilages. The patient showed cranial dysplasia on prenatal ultrasonography. At birth, a cloverleaf skull in association with hydrocephalus and digital malformations was apparent. These findings were consistent with PS type 2. The diagnosis of PS type 2 was confirmed from a genetic test detecting a
FGFR2
mutation (Y340C). During the clinical course, she underwent several surgeries, including ventriculoperitoneal shunts, sequential cranioplasty surgeries, and tracheotomy due to upper airway abnormalities. At 4 years old, she died of multiple organ failure following aspiration pneumonia. The autopsy revealed that the tracheal cartilages had fused with each other, resulting in a condition called TCS, in which the cartilage rings and tracheal ligaments were absent. The lungs were poorly aerated, and the dilated bronchi had thickened walls surrounded by many cartilage fragments, mainly at the hilum. These cartilages tended to overlap at both ends, did not fuse, and were greatly altered in size and shape.
Conclusions:
We report the results of autopsy for PS with the first histopathological findings for the lungs and other visceral organs.
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