Mucopolysaccharidosis Type VII (Sly Syndrome) Presenting as Neonatal Cholestasis With Hepatosplenomegaly

Gillett, Peter M.; Schreiber, Richard A.; Jevon, Gareth; Israel, David M.; Warshawski, Tom; Vallance, Hilary; Clarke, Lorne A.

doi:10.1097/00005176-200108000-00025

Cited by 25 publications

(9 citation statements)

References 27 publications

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“…MPS VII commonly presents at birth (or even before birth with hydrops) and is associated with chronic hepatosplenomegaly 50,56,57. Sialidosis and galactosialidosis have also been described as a cause of hepatosplenomegaly in the newborn 54,58.…”

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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Section: Frequent Clinical Manifestations In the Neonatal Periodmentioning

confidence: 99%

Lysosomal Storage Disorders in the Newborn

et al. 2009

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“…The pathogenesis of the cholestasis in MPS is not known; but the accumulation of intact and partially degraded glycosaminoglycan material in the lysosomes may cause the distension of the hepatocytes and Kupffer cells, resulting in compression of the sinusoids and lobular distortion. The factors contributing to subsequent fibrosis and cirrhosis also are unclear 10–12 . In the present patient the distention of hepatocytes due to vacuolar deposits, and sinusoids compressed by these enlarged hepatocytes were detected on histopathologic examination.…”

Section: Discussionmentioning

confidence: 53%

Findings of hepatobiliary scintigraphy and liver biopsy in Maroteaux–Lamy syndrome presenting as neonatal cholestasis

Arslan

Mavi

Kalkan

et al. 2006

Pediatrics International

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“…This finding is surprising, as L176F cDNA in COS cells produces nearly as much enzyme as the wild‐type cDNA (19), and most L176F/L176F patients are found to have a mild phenotype (22). Although the three brothers reported here had an early onset of symptomatology (peripheral oedema at birth and prolonged neonatal jaundice are known to be associated with MPS VII) (23), the evolution of patient 1 suggests that he has the intermediate form of MPS VII. Nevertheless, his elder brother (patient 2) died during childhood, which is usually associated with the more severe clinical form of MPS VII.…”

Section: Mucopolysaccharidosis VII (Mps Vii) Patients Presenting Withmentioning

confidence: 79%

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

Schwartz¹,

Silva²,

Leistner³

et al. 2003

Clinical Genetics

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Mucopolysaccharidosis Type VII (Sly Syndrome) Presenting as Neonatal Cholestasis With Hepatosplenomegaly

Cited by 25 publications

References 27 publications

Lysosomal Storage Disorders in the Newborn

Lysosomal Storage Disorders in the Newborn

Findings of hepatobiliary scintigraphy and liver biopsy in Maroteaux–Lamy syndrome presenting as neonatal cholestasis

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family

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