ABSTRACT
Bardet-Biedl syndrome (BBS) is a well-recognized ciliopathy characterized by cardinal features namely: early onset retinitis pigmentosa, polydactyly, obesity, hypogonadism, renal and cognitive impairment. Recently, disorders of olfaction (anosmia, hyposmia) have been also described in BBS patients. Moreover, morphological brain anomalies have been reported and prompt for further investigations to determine whether they are primary or secondary to peripheral organ involvement (i.e. visual or olfactory neuronal tissue). The objective of this article is to evaluate olfactory disorders in BBS patients and to investigate putative correlation with morphological cerebral anomalies. To this end, 20 BBS patients were recruited and evaluated for olfaction using the University of Pennsylvania Smell Identification Test (UPSIT). All of them underwent a structural magnetic resonance imaging (MRI) scan. We first investigated brain morphological differences between BBS subjects and 14 healthy volunteers. Then, we showed objective olfaction disorders in BBS patients and highlight correlation between gray matter volume reduction and olfaction dysfunction in several brain areas.
Subject(s)
Bardet-Biedl Syndrome/physiopathology , Brain/pathology , Olfaction Disorders/etiology , Adolescent , Adult , Atrophy , Case-Control Studies , Female , Humans , Magnetic Resonance Imaging , Male , Retinitis Pigmentosa/etiology , Smell/physiology , Young AdultABSTRACT
Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to an α-L-iduronidase deficiency, which leads to an accumulation of glycosaminoglycans in the lysosomes of most cells, resulting in tissue and organ dysfunction. MPS I is inherited in an autosomal-recessive manner. This disorder has a chronic, progressive course and is characterized by mental retardation, dysmorphy, organomegaly, multisystem involvement, and multiple dysostosis. Early disease recognition is important for a prompt start of specific treatment, which improves many aspects of MPS I, and for the patient's overall management.
