title: Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy.
abstract: Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a girl diagnosed with type 2 Gaucher disease at 12months of age who presented with poor weight gain from infancy, stridor, hypertonia, hepatosplenomegaly, trismus and an eye movement disorder. Enzyme replacement therapy (ERT) was administered, but she had frequent myoclonus and developmental regression. She needed artificial ventilation because of respiratory failure. She died at 11years of age. An autopsy demonstrated infiltrating CD68-positive large cells containing abundant lipids in alveoli, while in the liver, kidney and bone marrow CD68-positive cells were small and round. In the bone marrow, myelodysplastic changes were present without Gaucher cells. The infiltration of Gaucher cells in alveoli was marked, suggesting that ERT was relatively ineffective in pulmonary involvement, particularly intra-alveolar. Additional treatments are necessary to improve the neurological and pulmonary prognosis of type 2Gaucher disease.
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan; Department of Pediatrics, Ehime prefectural Imabari Hospital, 3-1-1, Ishii-cho, Imabari, Ehime 792-0042, Japan. Electronic address: yukost@m.ehime-u.ac.jp.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Tezuka
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan; Department of Pediatrics, Ehime prefectural Imabari Hospital, 3-1-1, Ishii-cho, Imabari, Ehime 792-0042, Japan.
authors.forename: Mitsumasa
authors.initials: M
authors.lastname: Fukuda
authors.affiliation: Department of Pediatrics, Ehime prefectural Imabari Hospital, 3-1-1, Ishii-cho, Imabari, Ehime 792-0042, Japan.
authors.forename: Shohei
authors.initials: S
authors.lastname: Watanabe
authors.affiliation: Department of Pediatrics, Ehime prefectural Imabari Hospital, 3-1-1, Ishii-cho, Imabari, Ehime 792-0042, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nakano
authors.affiliation: Department of Pediatrics, Ehime prefectural Niihama Hospital, 4-5-5, Hongo, Niihama, Ehime 794-0006, Japan.
authors.forename: Kentaro
authors.initials: K
authors.lastname: Okamoto
authors.affiliation: Department of Pediatrics, Ehime prefectural Niihama Hospital, 4-5-5, Hongo, Niihama, Ehime 794-0006, Japan.
authors.forename: Kazuyo
authors.initials: K
authors.lastname: Kuzume
authors.affiliation: Department of Pediatrics, Ehime Rehabilitation Center for Children, 2135, Tanokubo, Toon, Ehime 791-0212, Japan.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Yano
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Eguchi
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan.
authors.forename: Minenori
authors.initials: M
authors.lastname: Ishimae
authors.affiliation: Department of Pediatrics, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Ishii
authors.affiliation: Department of Genome Pathology, Ehime University Graduate School of Medicine, Shitsukawa, Toon, Ehime 791-0295, Japan.
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Miyazaki
mesh_terms: D015703:Antigens, CD / Q000032:analysis; D015214:Antigens, Differentiation, Myelomonocytic / Q000032:analysis; D001344:Autopsy; D001853:Bone Marrow / Q000187:drug effects / Q000473:pathology; D002648:Child; D056947:Enzyme Replacement Therapy; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000188:drug therapy* / Q000473:pathology*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D007668:Kidney / Q000187:drug effects / Q000473:pathology; D008099:Liver / Q000187:drug effects / Q000473:pathology; D008168:Lung / Q000187:drug effects / Q000473:pathology; D014781:Viscera / Q000187:drug effects / Q000473:pathology; D000097382:CD68 Molecule
chemical_list: D015703:Antigens, CD; D015214:Antigens, Differentiation, Myelomonocytic; D005962:Glucosylceramidase; C067980:CD68 antigen, human; D000097382:CD68 Molecule; C090568:imiglucerase
keywords: Autopsy; CD68 immune staining; Myelodysplastic syndrome; Neuronopathic Gaucher disease; Pulmonary involvement