ABSTRACT
Adult leukoencephalopathy caused by alpha-mannosidosis deficiency (MIM248500) is a recessive inherited lysosomal storage disease associated with decreased activity of alpha-mannosidase. This enzyme degrades oligosaccharides and glycoproteins in neural and visceral tissues. There are two different disease phenotypes, type-I or severe infantile phenotype and type 2, which progresses more slowly and is compatible with survival into adulthood. We report the case of a 51-year-old man with gait disorders beginning at the age of 40 years associated with leukoencephalopathy due to alpha-mannosidosis deficiency.
Subject(s)
Cerebrovascular Disorders/etiology , alpha-Mannosidosis/diagnosis , Brain/pathology , Gait Disorders, Neurologic/etiology , Humans , Magnetic Resonance Imaging , Male , Middle AgedABSTRACT
OBJECTIVES: To determine the value of hidrocolonic ultrasound in the detection of proliferative lesions in the colon and to compare it with other techniques of already proven value. MATERIAL AND METHODS: We performed a prospective blinded trial including 155 patients (82 males and 73 females) with ages ranging from 33 to 94 years (average of 58) and clinical and analytical criteria suggesting the existence of colonic proliferative lesions. Patients with rectal mass or those with deficient bowel preparation were excluded. Ultrasound findings were compared to those obtained by colonoscopy (133 cases) and by Barium RX studies (22 cases) and all diagnoses were always confirmed by histologic exams. RESULTS: 155 patients were studied. 50 of them had cancer and 46 of these 50 were diagnosed by Hidrocolonic Ultrasound (92%); 19 had polyps > 7 mm. and 15 of these (78.9%) were diagnosed by Hidrocolonic Ultrasound. Hidrocolonic Ultrasound failed to detect all the polyps < 7 mm. The overall sensitivity, specificity, positive predictive value and negative predictive value for identifying colon carcinoma were 92%, 98%, 95.8% and 96.2% respectively and for polyps > 7 mm were 78.9%, 100%, 100% and 97.1%, respectively. The mean time for examination was 14 minutes. Tolerance was good in 114 patients (73.5%), 29 showed a slight discomfort (18.7%) and 12 (7.7%) showed a great discomfort. There were no complications. CONCLUSIONS: Hidrocolonic ultrasound is an innocuous, fast, well tolerated technique for detecting colonic proliferative lesions > 7 mm H.U. can be considered as a useful complementary technique to other more expensive and invasive ones, such as barium RX studies and Colonoscopy.
