Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

Turkia, Hadhami Ben; Tebib, Néji; Azzouz, Hatem; Abdelmoula, M.S.; Chehida, Amel Ben; Caillaud, Catherine; Dridi, M. F. Ben

doi:10.1038/jp.2008.179

Cited by 13 publications

(7 citation statements)

References 10 publications

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“…Some consider the perinatal‐lethal form to exist on a spectrum with GD type 2. Patients with the perinatal‐lethal form typically present with nonimmune hydrops fetalis or die within the first 3 months of life . Our case provides support for this notion, as the patient displayed the neuropathic features of GD type 2 but declined very rapidly, with death in the perinatal period.…”

Section: Discussionsupporting

confidence: 70%

Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions

Carr

Casamiquela

Jacks

2015

Pediatric Dermatology

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Collodion membrane is most closely associated with forms of autosomal recessive congenital ichthyosis, but the differential diagnosis includes many other less common etiologies. Herein we present a case of Gaucher disease (GD) type 2 in a neonate presenting with collodion membrane in addition to blueberry muffin lesions. The clinical presentation and etiology of GD and the differential diagnoses for collodion membrane and blueberry muffin lesions are briefly reviewed.

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Section: Discussionsupporting

confidence: 70%

Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions

Carr

Casamiquela

Jacks

2015

Pediatric Dermatology

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“…The patients had facial dysmorphism, but no neurologic involvement. (Ben Turkia et al 2009). One case presented with severe thrombocytopenia requiring platelet transfusions, but only mild direct hyperbilirubinemia peaking at 5.4 mg/dl and a normal neurological exam at 5 months of age (Roth et al 2005).…”

Section: Case Discussionmentioning

confidence: 93%

Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease

Elias

Johnson

Boitnott³

et al. 2011

JIMD Reports

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Gaucher disease type 2 [OMIM #230800] is a rare lysosomal storage disorder with usual onset between 3 and 6 months of age leading to progressive neurodegeneration and death within the first 2 years of life. Rarely it may lack the characteristic symptom-free period and initially manifest prenatally or in the neonatal period. The early course of neonatal onset classic type 2 variants is not well known, and reports of early histological changes in the liver of type 2 Gaucher disease patients are scarce. We describe a patient who presented in the immediate postnatal period with cholestasis without hepatomegaly associated with hepatocellular giant-cell transformation on liver biopsy, thrombocytopenia, and failure to thrive. This was initially thought to represent neonatal giant-cell hepatitis and the correct diagnosis was not made until the age of 6 months. Hepatocellular giant transformation has not been described in the classic acute neuronopathic form of GD. However, it has been reported in congenital GD with nonimmune hydrops and neonatal hepatitis, an example of perinatal lethal Gaucher disease (PLGD), which sometimes is regarded as an entity separate from GD type 2. Our case illustrates that neonatal cholestasis may be part of a spectrum of manifestations which spans a continuum between the PLGD and classic type 2 GD. Giant cells are a nonspecific finding but may reflect the presence of a systemic inflammatory process that recently has been implicated in the brain stem degeneration associated with acute neuronopathic GD.

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“…There are three clinical subtypes of GD: the non‐neuropathic type I disease (GD1), the acute neuropathic type II disease (GD2), and the sub‐acute neuropathic type III disease (GD3). The GD 2 form has the worst prognosis, with earlier presentation either as a perinatal lethal form or as classic type II GD with severe visceral and nervous system involvement 2,3 . Despite the classifications, there remains significant heterogeneity within each subtype, reflecting the initial division of a disorder that was caused by defects within a single gene 2,4 .…”

Section: Introductionmentioning

confidence: 99%

Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review

Soudek

Siddiqui

Guerin

et al. 2020

Pediatric Transplantation

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Background:We present a rare case of neonatal cholestasis in a female infant with Gaucher Disease (GD), who received liver transplantation. We review the relevant literature on similar disease presentations. Methods:A chart review of the index case was performed. PubMed and Medline databases were searched to identify other cases. Results:A 4-day-old female was referred with conjugated hyperbilirubinemia.Physical examination revealed icterus with hepatosplenomegaly and normal neurologic examination. The diagnosis of GD was confirmed through liver biopsy, low glucocerebrosidase enzyme activity, and two pathogenic mutations in GBA gene.Despite early initiation of ERT, the patient had worsening of her liver failure and underwent a left lateral segment liver transplant from a living donor at 7 months of age. She experienced improvement of her liver enzymes and coagulation, but passed away at 8 months due to the late onset of neurologic involvement. Nine other cases of GD presenting with neonatal cholestasis have been reported. Forty-four percent (4/9) of cases received ERT and none were considered for transplant. Overall, the literature suggests a poor prognosis with death reported in 77% (7/9) cases.

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Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

Cited by 13 publications

References 10 publications

Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions

Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions

Neonatal Cholestasis as Initial Manifestation of Type 2 Gaucher Disease: A Continuum in the Spectrum of Early Onset Gaucher Disease

Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review

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