title: Siblings with fucosidosis.
abstract: Fucosidosis is a rare lysosomal storage disorder due to deficiency of fucosidase enzyme, with around 100 cases reported worldwide. Here, we describe the clinical and imaging features in two siblings with fucosidosis. An 8-year-old girl presented with global developmental delay, followed by regression of acquired milestones from 3 years of age with bipyramidal, extrapyramidal involvement, coarse facies, telangiectatic lesions, dysostosis multiplex, characteristic magnetic resonance imaging finding along with undetectable levels of the fucosidase activity, which confirmed the diagnosis. Younger sibling has mild developmental delay with autistic traits with no neuroregression until now. He also has undetectable level of fucosidase enzyme activity and is being considered for stem cell transplantation. New case reports would expand the clinical spectrum, early diagnosis and help formulating appropriate therapy. Early diagnosis is crucial and hence sibling screening can be done, and those in the presymptomatic stage can undergo hematopoietic stem cell transplantation, which is potentially curable.
authors.affiliation: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Karthik
authors.initials: K
authors.lastname: Muthusamy
authors.affiliation: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Maya Mary
authors.initials: MM
authors.lastname: Thomas
authors.affiliation: Department of Dermatology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Renu Elizabeth
authors.initials: RE
authors.lastname: George
authors.affiliation: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Mathew
authors.initials: M
authors.lastname: Alexander
authors.affiliation: Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Sunithi
authors.initials: S
authors.lastname: Mani
authors.affiliation: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors.forename: Rohit N
authors.initials: RN
authors.lastname: Benjamin
keywords: Dysostosis multiplex; fucosidosis; hypomyelination; neuroregression; stem cell transplantation