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Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis

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Abstract

Neonatal ascites is usually attributed to prenatal infections, lysosomal storage disease and anomalies of the genitourinary tract, gastrointestinal tract or cardiovascular system. We report one case of neonatal ascites associated with infantile sialidosis. Cerebral sonography showed stripe-like intracerebral echogenicities in the region of the basal ganglia. Colour Doppler imaging demonstrated blood flow within the echogenicities confirming the suspected diagnosis of intracranial vasculopathy.

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References

  1. Griscom NT, Colodny EH, Rosenberg HK, Fliegel CR, Hardy BE (1977) Diagnostic aspects of neonatal ascites: report of 27 cases. AJR 128:961

    PubMed  Google Scholar 

  2. Hadlock FP, Deter RL, Garcia-Pratt J, Athey P, Carpenter R, Hinkley CM, Park SK (1980) Fetal ascites not associated with Rh incompatibility: recognition and management with sonography. Am J Radiol 134:1225

    Google Scholar 

  3. Kay R, Brereton RJ, Johnson JH (1980) Urinary ascites in the newborn. Br J Urol 52:451

    PubMed  Google Scholar 

  4. Machin GA (1981) Differential diagnosis of hydrops fetalis. Am J Med Genet 9:341

    PubMed  Google Scholar 

  5. Etches PC, Lemmons JA (1979) Nonimmune hydrops fetalis: Report of 22 cases including three siblings. Pediatrics 64:326

    PubMed  Google Scholar 

  6. Frank DJ, De Vaux WD, Perkins JR, Perrin EV (1966) Fetal ascites and cytomegalic inclusion disease. Am J Dis Child 112:604

    PubMed  Google Scholar 

  7. Gillan JE, Lowden JA, Gaskin K, Cutz E (1984) Congenital ascites as a presenting sign of lysosomal storage disease. J Pediatr 104:225

    PubMed  Google Scholar 

  8. Daneman A, Stringer D, Reilly BJ (1983) Neonatal ascites due to lysosomal storage disease. Radiology 149:463

    PubMed  Google Scholar 

  9. Ginsburg SJ, Groll M (1973) Hydrops fetalis due to infantile Gaucher's disease. J Pediatr 82:1046

    PubMed  Google Scholar 

  10. Abu-Dalu KI, Tamary H, Livni N, Rivkind AI, Yatziv S (1982) GM1-gangliosidosis presenting as neonatal ascites. J Pediatr 100:940

    PubMed  Google Scholar 

  11. Nelson A, Peterson L, Frampton B, Sly WS (1982) Mucopolysaccharidosis VII (β-glucuronidase deficiency) presenting as non-immune hydrops fetalis. J Pediatr 101:574

    PubMed  Google Scholar 

  12. Ben-Ami T, Yousefzadeh D, Backus B, Kessler A, Hammerman-Rozenberg C (1990) Lenticulostriate vasculopathy in infants with infections of the central nervous system: sonographic and Doppler findings. Pediatr Radiol 20:575

    PubMed  Google Scholar 

  13. Teele RL, Hernanz-Schulman M, Sotrel A (1988) Echogenic vasculature in the basal ganglia of neonates: A sonographic sign of vasculopathy. Radiology 169:423

    PubMed  Google Scholar 

  14. Ries M, Deeg KH, Heininger U (1990) Demonstration of perivascular echogenicities in congenital cytomegalovirus infection by colour Doppler imaging. Eur J Pediatr 150:34

    PubMed  Google Scholar 

  15. Deeg KH (1988) Colour flow imaging of the great intracranial arteries in infants. Neuroradiology 31:40

    Google Scholar 

  16. Lowden JA, O'Brien JS (1979) Sialidosis: a review of human neuraminidase deficiency. Am J Hum Genet 31:1

    PubMed  Google Scholar 

  17. Spranger J (1987) Mini review: inborn errors of complex carbohydrate metabolism. Am J Med Genet 28:489

    PubMed  Google Scholar 

  18. O'Brien JS, Warner TG (1980) Sialidosis: delineation of subtypes by neuraminidase assay. Clin Genet 17:35

    PubMed  Google Scholar 

  19. Young ID, Young EP, Mossman J, Fielder AR, Moore JR (1987) Neuraminidase deficiency: case report and review of the phenotype. J Med Genet 24:283

    PubMed  Google Scholar 

  20. Beck M, Bender SW, Reiter HL, Otto W, Bässler R, Daneygier H, Gehler J (1984) Neuraminidase deficiency presenting as non-immune hydrops fetalis. Eur J Pediatr 143:135

    PubMed  Google Scholar 

  21. Laver J, Fried K, Beer SI, Iancu TC, Heyman E, Gach G, Zeiger M (1983) Infantile lethal neuraminidase deficiency (sialidosis). Clin Genet 23:97

    PubMed  Google Scholar 

  22. Johnson WG, Thomas GH, Miranda AF, Driscoll JM, Wigger JH, Yeh MN, Schwartz RC, Cohen CS, Berdon WE, Koenigsberger MR (1980) Congenital sialidosis: Biochemical studies clinical spectrum in four sibs: two successful prenatal diagnosis. Am J Hum Genet 32:43

    Google Scholar 

  23. Aylsworth AS, Thomas GH, Hood JL, Malouf N, Libert J (1980) A severe infantile sialidosis: clinical, biochemical, and microscopic features. J Pediatr 96:662

    PubMed  Google Scholar 

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Ries, M., Deeg, K.H., Wölfel, D. et al. Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosis. Pediatr Radiol 22, 179–181 (1992). https://doi.org/10.1007/BF02012489

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  • DOI: https://doi.org/10.1007/BF02012489

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