Picture of the Month Sydney S. Gellis, MD, Murray Feingold, MD; Contributed by Thaddeus
E.
Fig
MD
1.
Fig
Fig 3.
Fig
Kelly,
2.
4.
Received for publication Jan 6, 1975; accepted Feb 24. From the Johns Hopkins Hospital, Baltimore. Reprint requests to Boston Floating Hospital, 20 Ash St. Boston, MA 02111 (Dr. Gellis).
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Denouement and Discussion Mucolipidosis III (Pseudo-Hurler Polydystrophy) Fig 1.\p=m-\Minimal
coarsening
of facies, short stature, and
abnormalities at age 11 years.
Fig 2 and 3.\p=m-\Short
and
coarse
facies and
joint
stature, joint contractures, genu valgum, acne
later in life.
Fig 4.\p=m-\Clawhanddeformity.
Manifestations
usually start at age 2 to 3 years with and swelling. Some coarsening stiffness nonpainful joint of facies and shortness of stature make their appearance after age 6 years and may suggest the diagnosis of mucopolysaccharidosis. Also frequently found are minimal corneal clouding apparent early only by slitlamp examination, aortic and mitral murmurs, clawhand deformity, carpal tunnel syndrome secondary to median nerve compression, and a mild degree of mental retardation. Skeletal abnormalities consist of moderately severe dysostosis multiplex and disabling hip dysplasia by the late Manifestations
teens.
Laboratory findings are similar to those of mucolipi(I-cell disease). The urine examination for mucopolysaccharides is negative. Elevated serum levels of several acid hydrolases can be used as a screening test. Cultured fibroblasts demonstrate coarse cytoplasmic inclu¬ sions and low levels of a number of lysosomal enzymes. dosis II
Genetics
Autosomal recessive inheritance is apparent, based on affected siblings with normal parents. Parents are phenotypically normal. Treatment
There is
specific treatment. Decompression of the for median nerve compression is of benefit for sensory symptoms but has no effect on the clawhand no
carpal tunnel
deformity. Symptomatic treatment including operation may be required for hip pain and restriction. Total hip re¬ placement may be of benefit in adults.
The Editors welcome contributions to "Picture of the Month" and "Radiological Case of the Month." Those who wish to contribute should send their manuscripts to Dr. Gellis (Picture of the Month), Boston Floating Hospital, 20 Ash St, Boston, MA 02111, or Dr. Gwinn (Radiological Case of the Month), Childrens Hospital of Los Angeles, PO Box 51,700, Los Angeles, CA 90054. Articles and photographs accepted for publication will bear the contributor's name. There is no charge for reproduction and printing of color illustrations.
Downloaded From: http://archpedi.jamanetwork.com/ by a University of Pennsylvania User on 06/17/2015
E.
Fig
MD
1.
Fig
Fig 3.
Fig
Kelly,
2.
4.
Received for publication Jan 6, 1975; accepted Feb 24. From the Johns Hopkins Hospital, Baltimore. Reprint requests to Boston Floating Hospital, 20 Ash St. Boston, MA 02111 (Dr. Gellis).
Downloaded From: http://archpedi.jamanetwork.com/ by a University of Pennsylvania User on 06/17/2015
Denouement and Discussion Mucolipidosis III (Pseudo-Hurler Polydystrophy) Fig 1.\p=m-\Minimal
coarsening
of facies, short stature, and
abnormalities at age 11 years.
Fig 2 and 3.\p=m-\Short
and
coarse
facies and
joint
stature, joint contractures, genu valgum, acne
later in life.
Fig 4.\p=m-\Clawhanddeformity.
Manifestations
usually start at age 2 to 3 years with and swelling. Some coarsening stiffness nonpainful joint of facies and shortness of stature make their appearance after age 6 years and may suggest the diagnosis of mucopolysaccharidosis. Also frequently found are minimal corneal clouding apparent early only by slitlamp examination, aortic and mitral murmurs, clawhand deformity, carpal tunnel syndrome secondary to median nerve compression, and a mild degree of mental retardation. Skeletal abnormalities consist of moderately severe dysostosis multiplex and disabling hip dysplasia by the late Manifestations
teens.
Laboratory findings are similar to those of mucolipi(I-cell disease). The urine examination for mucopolysaccharides is negative. Elevated serum levels of several acid hydrolases can be used as a screening test. Cultured fibroblasts demonstrate coarse cytoplasmic inclu¬ sions and low levels of a number of lysosomal enzymes. dosis II
Genetics
Autosomal recessive inheritance is apparent, based on affected siblings with normal parents. Parents are phenotypically normal. Treatment
There is
specific treatment. Decompression of the for median nerve compression is of benefit for sensory symptoms but has no effect on the clawhand no
carpal tunnel
deformity. Symptomatic treatment including operation may be required for hip pain and restriction. Total hip re¬ placement may be of benefit in adults.
The Editors welcome contributions to "Picture of the Month" and "Radiological Case of the Month." Those who wish to contribute should send their manuscripts to Dr. Gellis (Picture of the Month), Boston Floating Hospital, 20 Ash St, Boston, MA 02111, or Dr. Gwinn (Radiological Case of the Month), Childrens Hospital of Los Angeles, PO Box 51,700, Los Angeles, CA 90054. Articles and photographs accepted for publication will bear the contributor's name. There is no charge for reproduction and printing of color illustrations.
Downloaded From: http://archpedi.jamanetwork.com/ by a University of Pennsylvania User on 06/17/2015
