Atypical case of neonatal-onset Gaucher disease type 3b: A case report.

Takanori Onuki, Kinuko Kojima, Kentaro Sawano, Nao Shibata, Yohei Ogawa, Go Hasegawa, Aya Narita, Hiromi Nyuzuki

Abstract readCase Reports

In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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8 authors.

Takanori OnukiDepartment of Pediatrics, Niigata University Graduate School of Medical and Dental Science, 1-754 Asahimachi-dori, Chuo-ku, Niigata city, Niigata 951-8520, Japan.

Kinuko KojimaDepartment of Pediatrics, Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, 4132 Urasa, Minamiuonuma city, Niigata 949-7302, Japan.

Kentaro SawanoDepartment of Pediatrics, Niigata University Graduate School of Medical and Dental Science, 1-754 Asahimachi-dori, Chuo-ku, Niigata city, Niigata 951-8520, Japan.

Nao ShibataDepartment of Pediatrics, Niigata University Graduate School of Medical and Dental Science, 1-754 Asahimachi-dori, Chuo-ku, Niigata city, Niigata 951-8520, Japan.

Yohei OgawaDepartment of Pediatrics, Niigata University Graduate School of Medical and Dental Science, 1-754 Asahimachi-dori, Chuo-ku, Niigata city, Niigata 951-8520, Japan.

Go HasegawaDepartment of Pediatrics, Uonuma Institute of Community Medicine, Niigata University Medical and Dental Hospital, 4132 Urasa, Minamiuonuma city, Niigata 949-7302, Japan.

Aya NaritaDepartment of Pediatrics, ISEIKAI International General Hospital, 4-14 Minami-Ogimachi, Kita-ku, Osaka city, Osaka 530-0052, Japan.

Hiromi NyuzukiDepartment of Pediatrics, Niigata University Graduate School of Medical and Dental Science, 1-754 Asahimachi-dori, Chuo-ku, Niigata city, Niigata 951-8520, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neonatal-onset Gaucher disease (nGD) is considered perinatal lethal GD, a variant of GD type 2 (GD2), and is associated with collodion skin or hydrops fetalis, hepatosplenomegaly, and involvement of central nervous system (CNS). Pulmonary involvement (PI) and lymphadenopathy (LD) are reported GD complications and have unknown incidence, pathogenesis, and response to treatments. Here, we report the case of a patient diagnosed with nGD with collodion skin who developed only mild neurological symptoms and later died in early childhood due to treatment-resistant PI and LD. A female neonate was born at 38 weeks of gestation (weight: approximately 2012 g, height: 45 cm). She had a collodion skin, hepatosplenomegaly, hemorrhagic plaques, and cholestatic liver disease at birth. She was diagnosed with GD based on decreased glucocerebrosidase enzyme activity, and genetic analysis of

Indexed as

Collodion skinGaucher diseaseGaucher disease type 1Gaucher disease type 3bLymphadenopathyNeonatal onsetPulmonary involvement

Identifiers

PMID40236727

DOI10.1016/j.ymgmr.2025.101211

PMCPMC11997330

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