fucosidosis is a rare lysosomal storage disorder , which is inherited in autosomal recessive pattern due to deficient activity of the enzyme alpha l fucosidase . type i presents in infancy with a very rapid progression of illness and death in early childhood , whereas type ii presents later with lesser severity although it is gradually progressive , and sometimes people survive into adulthood . so far around 100 cases have been reported worldwide with only one case from india . here , we present two siblings with fucosidosis with characteristic clinical , radiological and laboratory features with a brief review of the literature . an 8-year - old girl presented with features of neuroregression from around 3 years of age . her developmental milestones were delayed in all domains ( social smile - 3 months , head control - 5 months , rolling over - 8 months and walking unassisted and stranger awareness - 2 years ) . she had steady developmental gains till 3 years of age after which she developed insidious onset global regression of her acquired milestones . she presented to us at 8 years of age in bed bound state with spasticity and generalized dystonia . she had lost her language skills and currently indicates toilet needs and makes sounds without any meaningful words . she had elevated telangiectatic lesions on her palms and soles [ figure 1a ] , which was noticed from 7 years of age . her younger sibling , a 3-year - old girl , who was delivered preterm has mild developmental delay with autistic traits and mild coarse facies , but has been having good gains with developmental stimulation . ( a ) sole of the foot of a child showing multiple elevated telangiectatic lesions . widening of the medial end of clavicles ( b ) , deficiency of the medial end of radial epiphysis ( c ) , inferior beaking of thoraco lumbar vertebrae ( d ) , widening of the acetabulum ( e ) her blood counts , liver and renal functions were normal . x - rays [ figure 1b  e ] showed widening of medial ends of clavicles , deficiency of medial part of radial epiphysis , inferior beaking of thoracolumbar vertebrae and widening of acetabulum . magnetic resonance imaging ( mri ) brain revealed features of hypomyelination with diffuse t2-weighted hyperintensity in subcortical and periventricular cerebral white matter . globus pallidus ( gp ) , substantia nigra and thalamus were hypointense in t2-weighted images , and t1 showed hyperintensity of the gp [ figure 2a  d ] . there were two hyperintense curvilinear streaks within the lentiform nucleus on t2-weighted images corresponding to the lateral and medial medullary lamina of the gp [ figure 3 ] . magnetic resonance imaging brain t2-weighted axial image showing hypointensity of globus pallidus bilaterally and the subcortical hyperintensity ( a ) , t1-weighted axial image is showing the hyperintensity of globus pallidi ( b ) , t2 fluid attenuated inversion recovery images shows hypointensity of globus pallidi and hyperintensity of subcortical white matter ( c ) , t2 axial image showing the hyperintensity of subcortical u fibers and deep cerebral white matter suggestive of hypomyelination ( d ) t2 coronal sections showing the hyperintensity of medial and lateral medullary lamina of the globus pallidi the clinical picture of neuroregression , spasticity , dystonia , coarse facies , dysostosis multiplex , telangiectasia , mri feature of hypomyelination with t2 hypointense and t1 hyperintense gp and substantia nigra was suggestive of fucosidosis . fucosidase enzyme activity could not be detected in the leukocytes , which confirmed the diagnosis of fucosidosis . the defect leads to intracellular accumulation of fucose containing glycolipids and glycoproteins in various organs leading to the clinical manifestations . the clinical picture consists of progressive mental and motor deterioration , coarse facies , recurrent infections , dysostosis multiplex , angiokeratoma corporis diffusum , visceromegaly and seizures . our patient had coarse facies , dysostosis multiplex , telangiectatic skin lesions , ( which later evolve into angiokeratomas ) , progressive mental and motor deterioration . our patients probably had a milder form with slow progression , yet had developmental delay noticed from early infancy . classical mri finding described in fucosidosis include hypomyelination and demyelination with hyperintensity on t1 and marked hypointensity on t2-weighted images in the gp , diffuse symmetric t2 w hyperintensity of bilateral subcortical and deep white matter . the reason for signal alteration in gp is not exactly known , although several postulates like calcification , iron , manganese , cerebral glycolipid and triglyceride accumulation has been proposed . our patient had classical mri finding , in addition to that our case had t2-weighted hyperintensity of medial and lateral medullary lamina of gp , which passes between the hypointense gp . characteristic magnetic resonance spectroscopy findings reported are reduced n - acetyl aspartate / choline with elevated choline / creatine ratios and myoinositol , and a specific spectral peak at 3.8 - 3.9 ppm . various forms of dysostosis multiplex has been described , which was noted in our case also . our case had coarse facies with sociocognitive and motor regression , telangiectatic lesions in palms and soles , dysostosis multiplex and characteristic mri features of hypomyelination with gp and substantia nigra hypointensity in t2-weighted images and hyperintensity in t1 images with an undetectable fucosidase enzyme activity in leukocytes . the enzymes levels were not detected in her younger sibling also who has developmental delay with autistic traits . since she is early in the course of illness , she has been referred for consideration of hematopoietic stem cell transplantation . the treatment options at present are limited to hematopoietic stem cell transplant , which has shown to be curative in anecdotal studies . have described 22 disease causing mutations in fuca 1 gene , located on the short arm of chromosome 1 , which included point mutations , deletions , insertions , missense and inactivating mutations . early identification might lead to screening of presymptomatic siblings who might potentially be offered stem cell transplantation , which could be curative if done at an appropriate age .
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 .