The spectrum of brain and spine MRI abnormalities in Hunter disease is extremely wide and requires a thorough evaluation. WMAs, atrophy/communicating hydrocephalus and spinal stenosis progress over time and might represent possible disease severity markers for new treatment efficacy assessment.
The current paper describes the natural history and management of mucopolysaccharidosis VI (MPS VI) in all patients currently diagnosed with the disease in Italy. Nine patients (5.5-14.4 years) were included in the data review in March 2008. Gestational and perinatal data were normal for all patients. Median age at diagnosis was 1.9 years. During the course of the disease, all patients developed coarsened facial features, short stature, heart valve disease, eye problems, musculoskeletal problems, hepatosplenomegaly and neurological abnormalities. All patients received rhASB enzyme replacement therapy (ERT) and showed improvement or stabilisation in clinical manifestations after onset of therapy. The most frequently reported improvements were increased joint mobility and reduced hepatosplenomegaly. No relevant safety issues of ERT were reported. In conclusion, patients in Italy with MPS VI are diagnosed early in life. All patients have access to ERT and appear to benefit from this therapy.
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder characterized by defective intracellular lipid trafficking, with secondary accumulation of free cholesterol, sphingosine, and glycosphingolipids. NPC is clinically characterized by a wide spectrum of manifestations with progressive visceral and neurological involvement, including dysphagia. Neurological manifestations represent the most debilitating findings. Swallowing impairment is a frequent cause of morbidity and disability in NPC patients and progressive dysphagia may be considered a marker of neurological progression. Recently substrate reduction therapy with miglustat has been proposed for the treatment of neurological manifestations in NPC patients. This observational study reports on the long-term use of miglustat in four pediatric patients with NPC and shows the efficacy of the treatment to improve or prevent dysphagia, and persistence after 3 years of treatment or more. We used a videofluoroscopic analysis of liquid barium swallowing to provide additional information on patterns of impairment of the swallowing mechanism and to detect aspiration. In three patients showing dysphagia and aspiration we observed the improvement of the swallowing function and the sustained absence of barium aspiration in the airways after miglustat treatment, while the patient with normal swallowing function at baseline did not show any deterioration. We suggest that the videofluoroscopic study of swallowing should be routinely used to monitor the effects of treatment on swallowing ability in NPC patients.
BackgroundThe World Gastroenterology Organization recommends developing national guidelines for the diagnosis of Celiac Disease (CD): hence a profile of the diagnosis of CD in each country is required. We aim to describe a cross-sectional picture of the clinical features and diagnostic facilities in 16 countries of the Mediterranean basin. Since a new ESPGHAN diagnostic protocol was recently published, our secondary aim is to estimate how many cases in the same area could be identified without a small intestinal biopsy.MethodsBy a stratified cross-sectional retrospective study design, we examined clinical, histological and laboratory data from 749 consecutive unselected CD children diagnosed by national referral centers.ResultsThe vast majority of cases were diagnosed before the age of 10 (median: 5 years), affected by diarrhea, weight loss and food refusal, as expected. Only 59 cases (7.8%) did not suffer of major complaints. Tissue transglutaminase (tTG) assay was available, but one-third of centers reported financial constraints in the regular purchase of the assay kits. 252 cases (33.6%) showed tTG values over 10 times the local normal limit. Endomysial antibodies and HLA typing were routinely available in only half of the centers. CD was mainly diagnosed from small intestinal biopsy, available in all centers. Based on these data, only 154/749 cases (20.5%) would have qualified for a diagnosis of CD without a small intestinal biopsy, according to the new ESPGHAN protocol.ConclusionsThis cross-sectional study of CD in the Mediterranean referral centers offers a puzzling picture of the capacities to deal with the emerging epidemic of CD in the area, giving a substantive support to the World Gastroenterology Organization guidelines.
Mucopolysaccharidosis (MPS) IIIB (Sanfilippo syndrome, OMIM 252920) is a lysosomal storage disorder caused by the deficiency of a-N-acetylglucosaminidase (NAGLU), a lysosomal hydrolase involved in the degradation of heparan sulphate (HS) (1). MPS IIIB is characterized by multisystem involvement and a complex phenotype. The most debilitating manifestations of the disease are those related to central nervous system disease, with severe and progressive mental retardation, hyperactivity, and behavioral problems. Skeletal and visceral manifestations are less prominent, as compared with other MPS.Gastrointestinal manifestations, including diarrhea and constipation, have occasionally been described in patients with MPS IIIB, but they have been poorly characterized and their pathophysiology is not known.Although gastrointestinal symptoms are often overshadowed by the severe neurological phenotype, they may affect the quality of life of patients and of their families.We describe a case of MPS IIIB, referred to our hospital because of chronic diarrhea, in which abnormalities of intestinal endoscopy, histology, and scintigraphy with Tc-99m-labeled human serum albumin were found, partially overlapping with the features of intestinal lymphangiectasia. In this patient, a low-fat diet and supplementation of medium-chain triglycerides were started, leading to persisting improvement of diarrhea. These results add information on the pathophysiology of intestinal manifestations in MPS IIIB patients and possibly in other MPS patients with a history of chronic diarrhea. CASE REPORTWe describe a case of MPS IIIB, an 11-year-old Italian boy, born to healthy consanguineous parents, referred to our hospital at the age of 9 years because of developmental delay and severe chronic diarrhea. Besides parental consanguinity, family history was noncontributory. The first years of life were uneventful. Developmental delay was initially noticed at the age of 3 years. Gastrointestinal manifestations started at the age of 8 years.
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