α L iduronidase deficiency and possible Hurler Scheie genetic compound. Clinical, pathologic, and biochemical findings

P. R. Winters, M. J. Harrod, S. A. Molenich-Heetred, J. Kirkpatrick, R. N. Rosenberg

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

The enzymatic delineation of the mucopolysaccharidoses has revealed that certain syndromes, although phenotypically distinct, share the same enzymatic defect. Patients with the classic Hurler Scheie syndromes or other phenotypic variations of these two disorders have a deficiency of α L iduronidase. We are reporting a patient with α L iduronidase deficiency whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome and who may have had either the Hurler Scheie genetic compound described by McKusick or an allelic disorder. Our patient was a 25 year old woman, whose initial presentation was due to acute paranoia and who was subsequently found to have many morphologic, neurologic, radiographic, and neuropathologic findings consistent with a mucopolysaccharide disorder. To our knowledge, complete neuropathologic findings have not been previously described in this hybrid group of patients. A distinctive feature of this patient's illness is that the underlying disorder was not clinically apparent until adulthood, but presented with severe bony abnormalities of the skull and deposition of mucopolysaccharides in the meninges.

Original languageEnglish (US)
Pages (from-to)1003-1007
Number of pages5
JournalNeurology
Volume26
Issue number11
StatePublished - 1976

Fingerprint

Iduronidase
Mucopolysaccharidosis I
Glycosaminoglycans
Mucopolysaccharidoses
Paranoid Disorders
Meninges
Skull
Nervous System

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Winters, P. R., Harrod, M. J., Molenich-Heetred, S. A., Kirkpatrick, J., & Rosenberg, R. N. (1976). α L iduronidase deficiency and possible Hurler Scheie genetic compound. Clinical, pathologic, and biochemical findings. Neurology, 26(11), 1003-1007.

α L iduronidase deficiency and possible Hurler Scheie genetic compound. Clinical, pathologic, and biochemical findings. / Winters, P. R.; Harrod, M. J.; Molenich-Heetred, S. A.; Kirkpatrick, J.; Rosenberg, R. N.

In: Neurology, Vol. 26, No. 11, 1976, p. 1003-1007.

Research output: Contribution to journalArticle

Winters, PR, Harrod, MJ, Molenich-Heetred, SA, Kirkpatrick, J & Rosenberg, RN 1976, 'α L iduronidase deficiency and possible Hurler Scheie genetic compound. Clinical, pathologic, and biochemical findings', Neurology, vol. 26, no. 11, pp. 1003-1007.
Winters, P. R. ; Harrod, M. J. ; Molenich-Heetred, S. A. ; Kirkpatrick, J. ; Rosenberg, R. N. / α L iduronidase deficiency and possible Hurler Scheie genetic compound. Clinical, pathologic, and biochemical findings. In: Neurology. 1976 ; Vol. 26, No. 11. pp. 1003-1007.
@article{05ed4354b740460d90b05c71ca825adb,
title = "α L iduronidase deficiency and possible Hurler Scheie genetic compound. Clinical, pathologic, and biochemical findings",
abstract = "The enzymatic delineation of the mucopolysaccharidoses has revealed that certain syndromes, although phenotypically distinct, share the same enzymatic defect. Patients with the classic Hurler Scheie syndromes or other phenotypic variations of these two disorders have a deficiency of α L iduronidase. We are reporting a patient with α L iduronidase deficiency whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome and who may have had either the Hurler Scheie genetic compound described by McKusick or an allelic disorder. Our patient was a 25 year old woman, whose initial presentation was due to acute paranoia and who was subsequently found to have many morphologic, neurologic, radiographic, and neuropathologic findings consistent with a mucopolysaccharide disorder. To our knowledge, complete neuropathologic findings have not been previously described in this hybrid group of patients. A distinctive feature of this patient's illness is that the underlying disorder was not clinically apparent until adulthood, but presented with severe bony abnormalities of the skull and deposition of mucopolysaccharides in the meninges.",
author = "Winters, {P. R.} and Harrod, {M. J.} and Molenich-Heetred, {S. A.} and J. Kirkpatrick and Rosenberg, {R. N.}",
year = "1976",
language = "English (US)",
volume = "26",
pages = "1003--1007",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "11",

}

TY - JOUR

T1 - α L iduronidase deficiency and possible Hurler Scheie genetic compound. Clinical, pathologic, and biochemical findings

AU - Winters, P. R.

AU - Harrod, M. J.

AU - Molenich-Heetred, S. A.

AU - Kirkpatrick, J.

AU - Rosenberg, R. N.

PY - 1976

Y1 - 1976

N2 - The enzymatic delineation of the mucopolysaccharidoses has revealed that certain syndromes, although phenotypically distinct, share the same enzymatic defect. Patients with the classic Hurler Scheie syndromes or other phenotypic variations of these two disorders have a deficiency of α L iduronidase. We are reporting a patient with α L iduronidase deficiency whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome and who may have had either the Hurler Scheie genetic compound described by McKusick or an allelic disorder. Our patient was a 25 year old woman, whose initial presentation was due to acute paranoia and who was subsequently found to have many morphologic, neurologic, radiographic, and neuropathologic findings consistent with a mucopolysaccharide disorder. To our knowledge, complete neuropathologic findings have not been previously described in this hybrid group of patients. A distinctive feature of this patient's illness is that the underlying disorder was not clinically apparent until adulthood, but presented with severe bony abnormalities of the skull and deposition of mucopolysaccharides in the meninges.

AB - The enzymatic delineation of the mucopolysaccharidoses has revealed that certain syndromes, although phenotypically distinct, share the same enzymatic defect. Patients with the classic Hurler Scheie syndromes or other phenotypic variations of these two disorders have a deficiency of α L iduronidase. We are reporting a patient with α L iduronidase deficiency whose phenotypic abnormalities did not resemble either the Hurler or Scheie syndrome and who may have had either the Hurler Scheie genetic compound described by McKusick or an allelic disorder. Our patient was a 25 year old woman, whose initial presentation was due to acute paranoia and who was subsequently found to have many morphologic, neurologic, radiographic, and neuropathologic findings consistent with a mucopolysaccharide disorder. To our knowledge, complete neuropathologic findings have not been previously described in this hybrid group of patients. A distinctive feature of this patient's illness is that the underlying disorder was not clinically apparent until adulthood, but presented with severe bony abnormalities of the skull and deposition of mucopolysaccharides in the meninges.

UR - http://www.scopus.com/inward/record.url?scp=0017199628&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0017199628&partnerID=8YFLogxK

M3 - Article

C2 - 824566

AN - SCOPUS:0017199628

VL - 26

SP - 1003

EP - 1007

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 11

ER -