Refractory Congenital Ascites as a Manifestation of Neonatal Sialidosis: Clinical, Biochemical and Morphological Studies in a Newborn Syrian Male Infant

Sergi, Consolato; Beedgen, B.; Kopitz, Jürgen; Zilow, E P; Zoubaa, Saida; Otto, Herwart F.; Cantz, Michael; Linderkamp, Otwin

doi:10.1055/s-2007-993847

Cited by 23 publications

(20 citation statements)

References 4 publications

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“…First, only twelve cases of sialidosis with intrauterine onset have so far been described (summarized in Sergi et al 1999;Buchholz et al 2001). If nationality was reported, the patients were from parents of Japanese, Moroccan, German, Syrian, Turkish, Hispanic-American, Italian, and Ashkenazi Jewish ancestry.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

et al. 2001

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We report a Turkish family with parental consanguinity and at risk for sialidosis type II, an inherited autosomal recessive disorder caused by lysosomal alpha-N-acetyl-neuraminidase (sialidase, NEU1) deficiency. The proband was a premature male infant that presented with hydrops, hepatomegaly, respiratory distress syndrome, and anemia and that died of respiratory insufficiency 2 months after birth despite intensive care. An abnormally increased [14C]methylamine incorporation and an isolated deficiency of lysosomal alpha-N-acetyl-neuraminidase were found in cultured skin fibroblasts. A previous pregnancy of the mother terminated in a spontaneous abortion in the 13th week of gestation. A successive pregnancy showed hydrops fetalis, and an enzymatic assay of cultured amniotic fluid cells indicated a deficiency of alpha-N-acetyl-neuraminidase. Following pregnancy termination at 20 weeks gestation, light microscopy of fetal tissues revealed classic vacuolation not only in liver, bone marrow, brain, and kidney, but also in endocrine organs such as the thyroid gland, adrenal gland, hypophysis, and testes, and in the thymus. DNA analysis of the family showed that both the proband and the third sibling had a novel homozygous nonsense point mutation at nucleotide 87 in exon 1 of the alpha-N-acetyl-neuraminidase (neu1) gene causing a substitution of tryptophan at codon 29 by a termination codon (W29X). DNA sequencing of polymerase chain reaction products identified the parents as heterozygous carriers. To detect neu1 mRNA expression, a real-time reverse transcription/polymerase chain reaction was performed, and similar rates of neu1 mRNA expression were found in the fibroblasts of the fetus, the 2nd sibling, and in controls. The very early termination codon with complete loss of neuraminidase activity is probably the molecular basis of the unusually severe vacuolation pattern in this form of congenital sialidosis.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

et al. 2001

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“…However, there can be early presentations. For example, Sergi et al84 described a Syrian newborn with neonatal sialidosis who was noted at birth to have corneal clouding.…”

Section: Frequent Clinical Manifestations In the Neonatal Periodmentioning

confidence: 99%

“…Gaucher disease and neonatal sialidosis type 2C can also present with anemia and thrombocytopenia in the newborn period 72,84. In general, thrombocytopenia is a well-recognized feature of Gaucher disease secondary to hypersplenism, due in part to the splenomegaly that develops.…”

Section: Frequent Clinical Manifestations In the Neonatal Periodmentioning

confidence: 99%

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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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“…The histological report of the placenta of our patient did not mention any vacuolated or foam cells. Sergi et al [24] recently described a Syrian newborn, who died 28 days after birth. Unfortunately genotypic correlation has not been investigated.…”

Section: Discussionmentioning

confidence: 99%

Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation

Buchholz¹,

Molitor

Lukong

et al. 2001

Eur J Pediatr

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Refractory Congenital Ascites as a Manifestation of Neonatal Sialidosis: Clinical, Biochemical and Morphological Studies in a Newborn Syrian Male Infant

Cited by 23 publications

References 4 publications

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene

Lysosomal Storage Disorders in the Newborn

Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation

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