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Pediatric Nephrology

, Volume 4, Issue 4, pp 308–313 | Cite as

Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea — a new syndrome

  • Jane E. Deal
  • T. Martin Barratt
  • Michael J. Dillon
Original Article

Abstract

We describe six infants, from consanguineous marriages, with a new syndrome comprising the Fanconi syndrome, ichthyosis, musculoskeletal abnormalities, jaundice and diarrhoea. In addition two of the infants were found to have abnormal platelet morphology — the grey platelet syndrome. No evidence of a recognised metabolic disorder was found in any of the six infants, nor did they appear to be typical of any previously described syndromes. Their progress was poor: they required high fluid and bicarbonate intakes and all died by the age of 6 months of dehydration, acidosis and sepsis.

Key words

Fanconi syndrome Ichthyosis Dysmorphism Jaundice Diarrhoea Grey platelet syndrome 

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References

  1. 1.
    Bergeron M, Gougoux A (1989) The renal Fanconi syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw Hill, New York, pp 2569–2580Google Scholar
  2. 2.
    Passwell JH, Zipperkowski L, Katznelson D, Szeinberg A, Crispin M, Pollak S, Goodman R, Bat-Miriam M, Cohen BE (1973) A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism and generalised aminoaciduria. J Pediatr 82: 466–471PubMedGoogle Scholar
  3. 3.
    Lutz-Richner AR, Landolt RF (1973) Familiäre Gallengangmissbildungen mit tubularer Niereninsuffizienz. Helv Paediatr Acta 28: 1–12Google Scholar
  4. 4.
    Van Biervliet JPGM, Bruinvis L, Ketting D, De Bree PK, Van der Heiden C, Wadman SK (1977) Hereditary mitochondrial myopathy with lactic acidemia, a de Toni-Fanconi-Debre syndrome and a defective respiratory chain in voluntary striated muscles. Pediatr Res 11: 1088–1093PubMedGoogle Scholar
  5. 5.
    Roth KS, Foreman JW, Segal S (1981) The Fanconi syndrome and mechanisms of tubular transport dysfunction. Kidney Int 20: 705–716PubMedGoogle Scholar
  6. 6.
    Levy-Toledano S, Caen JP, Breton-Gorius J, Rendu F, Cywiner-Golenzer C, Dupuy E, Legrand Y, Maclouf J (1981) Gray-platelet syndrome—α-granule deficiency. Its influence on platelet function. J Lab Clin Med 98: 831–848PubMedGoogle Scholar
  7. 7.
    Wilkinson RD, Curtis GH, Hawk WA (1964) Netherton's disease. Arch Dermatol 89: 46–54PubMedGoogle Scholar
  8. 8.
    Witkop CJ, Henry FV (1963) Sjögren-Larsson syndrome and histidinaemia: hereditary biochemical diseases with defects of speech and oral functions. J Speech Hear Disord 28: 109–123PubMedGoogle Scholar
  9. 9.
    Passwell JH, Goodman RM, Ziprkowski M, Cohen BE (1975) Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome. Clin Genet 8: 59–65PubMedGoogle Scholar
  10. 10.
    Rayner A, Lampert RP, Rennert OM (1978) Familial ichthyosis, dwarfism, mental retardation and renal disease. J Pediatr 92: 766–768PubMedGoogle Scholar
  11. 11.
    Aperia A, Berqvist G, Linne T, Zetterstrom R (1981) Familial Fanconi syndrome with malabsorption and galactose intolerance. Normal kinase and transferase activity. Acta Paediatr Scand 70: 527–533PubMedGoogle Scholar
  12. 12.
    Raccuglia G (1971) Gray platelet syndrome—a variety of qualitative platelet disorder. Am J Med 51: 818–828PubMedGoogle Scholar
  13. 13.
    Gerrard JM, Phillips DR, Rao GHR, Plow EF, Walz DA, Ross R, Harker LA, White JG (1981) Biochemical studies of two patients with the gray platelet syndrome. J Clin Invest 66: 102–109Google Scholar
  14. 14.
    White JG (1979) Ultrastructural studies of the gray platelet syndrome Am J Pathol 95: 445–461PubMedGoogle Scholar
  15. 15.
    Berndt MC, Castaldi PA, Gordon S, Halley H, McPherson VJ (1983) Morphological and biochemical confirmation of gray platelet syndrome in two siblings. Aust NZ J Med 13: 387–390Google Scholar
  16. 16.
    Mori K, Suzuki S, Sugai K (1984) Electron microscope and functional studies on platelets in gray platelet syndrome. Tohoku J Exp Med 143: 261–287PubMedGoogle Scholar

Copyright information

© IPNA 1990

Authors and Affiliations

  • Jane E. Deal
    • 1
  • T. Martin Barratt
    • 1
  • Michael J. Dillon
    • 1
  1. 1.Department of Paediatric Nephrology, Institute of Child HealthHospital for Sick ChildrenLondonUK

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