Hallazgos neurorradiológicos en una serie de pacientes con mucopolisacaridosis

Gero, M.L. Calleja; Gutiérrez-Solana, Luis González; Marín, Laura López; Pino, Miguel Ángel López; Castillo, Christine; Rodríguez, A. Duat

doi:10.1016/j.nrl.2011.10.007

Cited by 18 publications

(6 citation statements)

References 15 publications

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“…These findings were not previously described in patients with type A of Sanfilippo syndrome but only in other Sanfilippo subtypes [3]. Neuronal degeneration is probably a late phenomenon, as cortical atrophy was not observed in the early MRI scans in our patients [16].…”

Section: Discussioncontrasting

confidence: 63%

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Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

et al. 2014

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IntroductionSanfilippo syndrome type A (mucopolysaccharidosis IIIA - MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by a deficiency in sulfamidase.Case presentationTwo daughters (13 and 11 years old) of a consanguineous Palestinian family from the Israeli Arab community were investigated clinically and genetically for the presence of progressive neurodegenerative disease, psychomotor retardation and behavioral abnormalities. Development was normal up to one year of age. Thereafter, progressive motor and speech delay started. Metabolic screening including glycosaminoglycans, karyotype testing and magnetic resonance imaging were normal. Later in the disease, they developed severe spasticity and intellectual disability with autistic features and incontinence. Magnetic resonance imaging revealed diffuse hypomyelination with thinning of the corpus callosum. Genetic examination through whole exome sequencing revealed a homozygous mutation c.416C >T (p.T139M) in the N-sulfoglucosamine sulfohydrolase (SGSH) gene. Repeated biochemical testing at age 11 and 13 revealed increased levels of glycosaminoglycans confirming the diagnosis of Sanfilippo syndrome type A.ConclusionThese cases were considered to be the first report of Sanfilippo syndrome in Israel. We recommend that if similar clinical features are present during childhood, it is preferred to go directly and primarily for a genetic diagnosis of Sanfilippo syndrome, then secondarily for other lysosomal storage disorders that may also be involved.

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Section: Discussioncontrasting

confidence: 63%

“…This deficiency leads to abnormal accumulation of GAG in the lysosomes which in turn gets excreted in the urine. GAG accumulation results in physical and mental handicap [3]. Mucopolysaccharidosis type III (MPS III) is known as Sanfilippo syndrome.…”

Section: Introductionmentioning

confidence: 99%

Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

et al. 2014

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“…Furthermore, ventricular dilatation and enlargement of subarachnoid spaces, thin corpus callosum, enlarged perivascular spaces are also considered common neuroimaging findings in MPS III. [89] MRI findings encountered in our case were in accordance with those reported in literature, however, X-ray findings in our patient did not show dysostosis.…”

Section: Discussionsupporting

confidence: 92%

Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?

Kartal

2016

J Pediatr Neurosci

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Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test. We emphasized that these findings may serve as possible initial presentations of MPS IIIA; therefore, screening for MPS should be done in all patients with unexplained psychomotor retardation and progressive hyperactivity.

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“…Dilatation of the perivascular space around the brain capillaries in the white matter, neuronal swelling, cortical atrophy, and ventricular enlargement have been shown in MPS III patients [ 10 , 17 - 20 ]. These findings were confirmed in a later study which also frequently demonstrated neuroimaging (CAT and MRI) anomalies such as dilated Virchow-Robin perivascular spaces, patchy changes in white matter, and ventriculomegaly in children with MPS types I, II, III, and VI [ 21 ]. In some patients with MPS I, II, or III, callosal atrophy and cerebellar changes were noted along with morphological abnormalities in Purkinje cells [ 22 ].…”

Section: Introductionmentioning

confidence: 55%

Blood-brain barrier impairment in MPS III patients

et al. 2013

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BackgroundMucopolysaccharidosis type III (MPS III) is an autosomal recessive disorder caused by deficiency of a specific enzyme leading to heparan sulfate (HS) accumulation within cells and to eventual progressive cerebral and systemic organ abnormalities. Different enzyme deficiencies comprise the MPS III subcategories (A, B, C, D). Since neuropathological manifestations are common to all MPS III types, determining blood-brain barrier (BBB) condition may be critical to understand potential additional disease mechanisms.MethodsWe investigated BBB integrity in various brain structures of post-mortem tissues from an eleven year old Caucasian female with MPS III A and from a twenty four year old Caucasian female with MPS III D. Control tissues were obtained post-mortem from three Caucasians without neurological deficits: a twelve year old male, a twenty four year old female, and a twenty seven year old female. BBB capillary ultrastructure (electron microscopy) and capillary functional integrity (IgG leakage, tight junction proteins, and lysosomal accumulation within endothelium) were examined.ResultsCompromised BBB integrity was found in both MPS III cases. Major study findings were: (1) capillary endothelial and pericyte cell damage; (2) mucopolysaccharide bodies in a majority of endothelial cells and pericytes rupturing cell membranes; (3) severe extracellular edema; (4) IgG microvascular leakage and reductions of occludin and claudin-5 with variations between MPS III types; (5) extensive lysosomal accumulation in capillary endothelium.ConclusionsThese new findings of BBB structural and functional impairment, although from only two cases, MPS III A and III D, may have implications for disease pathogenesis and should be considered in treatment development for MPS III.

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Hallazgos neurorradiológicos en una serie de pacientes con mucopolisacaridosis

Cited by 18 publications

References 15 publications

Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?

Blood-brain barrier impairment in MPS III patients

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