Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma

Ramaswami, Uma; Mengel, Eugen; Berrah, A.; AlSayed, Moeenaldeen; Broomfield, Alex; Donald, Aimee; Dein, Hadeel M. seif El; Freisens, Selena; Hwu, Wuh‐Liang; Peterschmitt, Michel; Yoo, Han‐Wook; Abdelwahab, Magy

doi:10.1016/j.ymgme.2021.06.009

Cited by 21 publications

(14 citation statements)

References 53 publications

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“…Regarding gaucheroma, at the moment there is no clear indication in the literature on treatment regimen [12]. Similar cases to the one reported in our patient have been described in older children and appeared during treatment with ERT [10,11].…”

Section: Discussionsupporting

confidence: 78%

“…Homozygosity for c.1448T>C (p.Leu483Pro) found in our patient has been usually associated with GD3 [1,12,13], which has usually a slower neurological progression than GD2. Despite characteristic manifestations, there is currently no consensus for the diagnosis of this form other than neurological involvement in a patient with proven GD not explained by other causes [13,14].…”

Section: Discussionmentioning

confidence: 53%

“…According to our knowledge and the literature available [10][11][12][13], this case represents the youngest patient reported as having gaucheroma and also the first one presenting with gaucheroma at the diagnosis and not during the follow-up. Since a biopsy of gaucheromas may pose a risk of further seeding [9] and could be dangerous in this patient for the presence of massive splenomegaly, after consultation with a pediatric surgeon, we felt confident that liver biopsy could be avoided.…”

Section: Discussionmentioning

confidence: 75%

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Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma

et al. 2023

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Gaucher Disease (GD) is a condition resulting from an autosomal recessive inheritance pattern, characterized by a deficiency of the lysosomal enzyme beta-glucocerebrosidase. This leads to the accumulation of glucocerebroside and other glycolipids in multiple tissues, causing damage to various organ systems. The diagnosis of GD can be challenging due to its heterogeneity, non-specific symptoms, and variability across different geographic regions and age groups. Although GD is suspected based on symptoms or signs, the diagnosis is confirmed through the measurement of deficient b-glucocerebrosidase activity and the identification of biallelic pathogenic variants in the GBA gene. Intravenous enzyme replacement therapy (ERT) is recommended for GD patients. In this paper, we report a case of a 2-year and 8-month-old girl with massive splenomegaly and radiological finding of hepatic gaucheroma, in whom a genetic study showed homozygous mutation on the GBA gene at c.1448T>C (p.Leu483Pro) and certified the diagnosis of GD. This patient represents the youngest child reported to have gaucheroma and also the first one presenting with gaucheroma at the diagnosis and not during the follow up, highlighting that GD should be routinely included in the differential diagnosis of children presenting with splenomegaly and hepatomegaly, taking into account that the early start of ERT can change the natural history of the disease-preventing serious complications.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 53%

Section: Discussionmentioning

confidence: 75%

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Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma

et al. 2023

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“…Portal hypertension impairs splanchnic lymphatic drainage causing elevated pressures with dilation of intestinal lymphatic vessels which leads to protein leakage through the intestinal epithelium. 20 , 22 Furthermore, Ramaswani's recent publication 23 focusing on the lesser‐known complications of Gaucher disease reports the development of mesenteric lymphadenopathy and mural thickening of the intestine associated with protein‐losing enteropathy characterised by malnutrition, weight loss and peripheral oedema. Protein‐losing enteropathy was not observed in this case.…”

Section: Discussionmentioning

confidence: 99%

Ascites in infantile onset type II Sialidosis

et al. 2022

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Sialidosis is a rare autosomal-recessive lysosomal storage disease due to mutations in the NEU1 gene leading to a deficit of alpha-n-acetyl neuraminidase and causing aberrant accumulation of sialylated glycoproteins/peptides and oligosaccharides in the lysosomes of various organs and tissues. Type II sialidosis (dysmorphic form) is classified into three subgroups based on the age of onset and the clinical severity: Congenital or neonatal, infantile (onset 0-12 months) and juvenile form (onset 13 months-20 years). We report the case of a 3-year-old boy with sialidosis type II infantile form, who developed a voluminous ascites. To the best of our knowledge, ascites is not described in the infantile form but in the congenital form of the disease. Ascites seems to be of a multifactorial origin regarding our investigations: on the one hand, portal hypertension and on the other hypoalbuminemia maintained by proteinuria secondary to nephrosialidosis. Loss of plasma proteins in the gastrointestinal tract (protein-losing enteropathy) should also be considered in the case of portal hypertension and damages of the reticuloendothelial system.

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“… 33 The prevalence of lymphadenopathy in GD is difficult to establish due to the paucity of data. Results from a study search 37 suggest that the most commonly diagnosed lymphadenopathies are mesenteric and/or mediastinal (29 cases), although cases of cervical/axillary, supraclavicular, and generalized lymphadenopathy are also reported. For the mentioned reasons, patients are often first addressed for hematological evaluation.…”

Section: Introductionmentioning

confidence: 99%

The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases

Costagliola,

De Marco,

Massei

et al. 2024

TCRM

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Lymphoproliferation is defined by lymphadenopathy, splenomegaly, hepatomegaly, or lymphocytic organ and tissue infiltration. The most common etiologies of lymphoproliferation are represented by infectious diseases and lymphoid malignancies. However, it is increasingly recognized that lymphoproliferative features can be the presenting sign of rare conditions, including inborn errors of immunity (IEI) and inborn errors of metabolism (IEM). Among IEI, lymphoproliferation is frequently observed in autoimmune lymphoproliferative syndrome (ALPS) and related disorders, common variable immunodeficiency (CVID), activated phosphoinositide 3-kinase δ syndrome, and Epstein-Barr virus (EBV)-related disorders. Gaucher disease and Niemann-Pick disease are the most common IEMs that can present with isolated lymphoproliferative features. Notably, other rare conditions, such as sarcoidosis, Castleman disease, systemic autoimmune diseases, and autoinflammatory disorders, should be considered in the differential diagnosis of patients with persistent lymphoproliferation when infectious and malignant diseases have been reasonably ruled out. The clinical features of lymphoproliferative diseases, as well as the associated clinical findings and data deriving from imaging and first-level laboratory investigations, could significantly help in providing the correct diagnostic suspicion for the underlying etiology. This paper reviews the most relevant diseases associated with lymphoproliferation, including infectious diseases, hematological malignancies, IEI, and IEM. Moreover, some practical indications to orient the initial diagnostic process are provided, and two diagnostic algorithms are proposed for the first-level assessment and the approach to persistent lymphoproliferation, respectively.

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Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma

Cited by 21 publications

References 53 publications

Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma

Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma

Ascites in infantile onset type II Sialidosis

The Etiologic Landscape of Lymphoproliferation in Childhood: Proposal for a Diagnostic Approach Exploring from Infections to Inborn Errors of Immunity and Metabolic Diseases

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