GM1-Gangliosidosis presenting as nonimmune hydrops fetalis: a case report

Tasso, Maria-Jesús; Martínez-Gutiérrez, A; Carrascosa, Carmen; Vazquez, Socorro; Tebar, Roque

doi:10.1515/jpme.1996.24.5.445

Cited by 18 publications

(5 citation statements)

References 8 publications

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“…There have been at least five descriptions of cases with NIHF or congenital ascites, either transient or persistent, as the presenting symptom of GM1 gangliosidosis [15,51,74]. As in case IV of this publication, Maconochie et al described a patient with severe congenital ascites who had been diagnosed with NPC [53], and Meizner et al reported a case of NIHF in which NPC was diagnosed by electron microscopy [58].…”

Section: Resultsmentioning

confidence: 99%

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

Whybra

Mengel

Russo

et al. 2012

Orphanet Journal of Rare Diseases

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BackgroundLysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%.Patients and methodsWe report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination.ResultsAt present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero or postnatal is suggested. Transient forms of NIHF and/or ascites in association with MPS IVA, MPS VII and NPC are described for the first time in this publication.ConclusionsLSD should be considered in transient hydrops. Enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascites or hydrops have been ruled out, are important. This paper emphasizes the fact that LSD is significantly higher than the estimated 1% in previous studies, which is important for genetic counseling as there is a high risk of recurrence and the availability of enzyme replacement therapy for an increasing number of LSD.

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Section: Resultsmentioning

confidence: 99%

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature

Whybra

Mengel

Russo

et al. 2012

Orphanet Journal of Rare Diseases

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“…However, it has been described in neonates and fetuses diagnosed with galactosialidosis, GM1 gangliosidosis, and I-cell disease in association with NIHF 19,75…”

Section: Frequent Clinical Manifestations In the Neonatal Periodmentioning

confidence: 99%

“…There have been at least 5 descriptions of cases with NIHF or congenital ascites, either transient or persistent, as the presenting symptom of GM1 gangliosidosis 1 20,75,121–123. Burin et al91 reported hydrops with I-cell disease and Niemann-Pick type A. Maconochie et al64 described a patient with severe congenital ascites diagnosed with Niemann-Pick type C, and Meizner et al124 reported a case of NIHF in which Niemann-Pick type C was diagnosed by electron microscopy.…”

Section: Frequent Clinical Manifestations In the Neonatal Periodmentioning

confidence: 99%

Lysosomal Storage Disorders in the Newborn

et al. 2009

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Lysosomal storage disorders are rare inborn errors of metabolism, with a combined incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom considered when evaluating a sick newborn. A significant number of the >50 different lysosomal storage disorders, however, do manifest in the neonatal period and should be part of the differential diagnosis of several perinatal phenotypes. We review the earliest clinical features, diagnostic tests, and treatment options for lysosomal storage disorders that can present in the newborn. Although many of the lysosomal storage disorders are characterized by a range in phenotypes, the focus of this review is on the specific symptoms and clinical findings that present in the perinatal period, including neurologic, respiratory, endocrine, and cardiovascular manifestations, dysmorphic features, hepatosplenomegaly, skin or ocular involvement, and hydrops fetalis/congenital ascites. A greater awareness of these features may help to reduce misdiagnosis and promote the early detection of lysosomal storage disorders. Implementing therapy at the earliest stage possible is crucial for several of the lysosomal storage disorders; hence, an early appreciation of these disorders by physicians who treat newborns is essential. Keywordslysosomal storage disorders; neonatal; hydrops; enzyme deficiency THE LYSOSOMAL STORAGE disorders (LSDs) are rare diseases with a combined incidence of ~1 in 1500 to 7000 live births. 1,2 LSDs result from the inherited deficiency of 1 or more of the many catabolic enzymes that are located within the lysosome. This group of inborn errors of metabolism encompasses >50 different diseases, each characterized by the accumulation of specific substrates. [3][4][5][6] There are many steps necessary for the synthesis and processing of lysosomal enzymes, which makes this system prone to dysfunctions that can result from different mechanisms and at many different steps in the pathway.LSDs classically have not been considered disorders of the newborn. Generally, clinicians are taught that newborns with LSDs appear normal at birth and that the symptoms develop progressively over the first few months of life or even after many years. However, a portion

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“…Thus this phenotype may be more common than previously appreciated. Hydrops fetalis has been associated with other lysosomal storage diseases, including mucopolysaccharidosis types VII (39) and IV A (Morquio disease) (40), infantile free sialic acid storage disease (41), galactosialidosis (42), G M1 gangliosidosis (43), sialidosis (44), Niemann-Pick type C disease (45), Farber disease (46), and I cell disease (47).…”

Section: Perinatal Lethal Gaucher Diseasementioning

confidence: 99%