title: Cervical pachymeningeal hypertrophy as the initial and cardinal manifestation of mucopolysaccharidosis type I in monozygotic twins with a novel mutation in the alpha-L-iduronidase gene.
abstract: We describe a pair of monozygotic twins with an attenuated form of mucopolysaccharidosis type I (MPS-I). At age 24, they both developed cervical myelopathy as a cardinal manifestation. They each also had mild valve abnormalities and both inguinal and umbilical hernia, however, other characteristic features of MPS-I were absent or very mild. Magnetic resonance imaging revealed the cervical cord compressed by pachymeningeal hypertrophy. Surgery with dural plasty and laminoplasty resulted in decompression of the cervical cord with clinical improvement, revealing marked thickening of the dura mater. Both patients showed a marked decrease of alpha-L-iduronidase (IDUA) activity with c.252insC (p.P55fsX62; known) and c.1209C>A (p.T374N; novel) mutations of the IDUA gene (IDUA). Patients with MPS-I have been reported to present with various clinical phenotypes and severities even if they have identical mutations of IDUA. The quite similar, unique phenotype in monozygotic twins suggests that not only IDUA mutation but also other genetic factors than IDUA markedly influence the clinical manifestations of MPS-I.
authors.affiliation: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan. furukawa@med.kanazawa-u.ac.jp
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Furukawa
authors.forename: Ayumi
authors.initials: A
authors.lastname: Hamaguchi
authors.forename: Ichiro
authors.initials: I
authors.lastname: Nozaki
authors.forename: Takashi
authors.initials: T
authors.lastname: Iizuka
authors.forename: Takeshi
authors.initials: T
authors.lastname: Sasagawa
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Shima
authors.forename: Satoru
authors.initials: S
authors.lastname: Demura
authors.forename: Hideki
authors.initials: H
authors.lastname: Murakami
authors.forename: Norio
authors.initials: N
authors.lastname: Kawahara
authors.forename: Torayuki
authors.initials: T
authors.lastname: Okuyama
authors.forename: Kazuo
authors.initials: K
authors.lastname: Iwasa
authors.forename: Masahito
authors.initials: M
authors.lastname: Yamada
mesh_terms: D002574:Cervical Vertebrae; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004388:Dura Mater / Q000473:pathology*; D020233:Gait Disorders, Neurologic / Q000209:etiology / Q000473:pathology; D006801:Humans; D006984:Hypertrophy / Q000150:complications; D007068:Iduronidase / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D013902:Radiography, Thoracic; D013118:Spinal Cord Diseases / Q000473:pathology*; D013131:Spine / Q000473:pathology; D014430:Twins, Monozygotic; D055815:Young Adult
chemical_list: D004247:DNA; D007068:Iduronidase