Premium
Hunter syndrome in an 11‐year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution
Author(s) -
Manara Renzo,
Rampazzo Angelica,
Cananzi Mara,
Salviati Leonardo,
Mardari Rodica,
Drigo Paola,
Tomanin Rosella,
Gasparotto Nicoletta,
Priante Elena,
Scarpa Maurizio
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-9023-8
Subject(s) - enzyme replacement therapy , magnetic resonance imaging , hunter syndrome , hyperintensity , neuroradiology , ventriculomegaly , medicine , mucopolysaccharidosis type ii , white matter , atrophy , perivascular space , grey matter , pathology , pediatrics , radiology , disease , neurology , pregnancy , biology , fetus , genetics , psychiatry
Abstract Mucopolysaccharidosis type II (MPS‐II, Hunter disease) is a X‐linked recessive disorder. Affected females are extremely rare, mostly due to skewed X chromosome inactivation. A few papers outline MPS‐II brain magnetic resonance imaging (MRI) “gestalt” in males, but neuroradiological reports on females are still lacking. We present an 11‐year‐old girl affected by the severe form of MPS‐II who was followed up over a time span of 8 years, focusing on clinical and brain MRI evolution. In the last 2.5 years, the patient has been treated with enzyme replacement therapy (ERT) with idursulfase (Elaprase™, Shire Human Genetic Therapies AB, Sweden). On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J‐shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2‐hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup. Brain atrophy progressed despite ERT introduction, whereas perivascular space enlargement did not change significantly before and after ERT. Cognitive impairment worsened independently from the course of white matter abnormality. Despite a profound knowledge of genetic and biochemical aspects in MPS‐II, neuroradiology is still poorly characterized, especially in female patients. Spinal and brain involvement and its natural course and evolution after ERT introduction still need to be clarified.