Sjogren-Larsson-Syndrom

Matthias Möhrenschlager; William B. Rizzo; Cornelia S. Krausn; Johannes Limbrock; Monika Cohen; Ingrun Anton-Lamprecht; Dietrich Abeck; Johannes Ring

doi:10.1007/s001050051113

Sjogren-Larsson-Syndrom

Translated title of the contribution: Sjogren-Larsson Syndrome

Matthias Möhrenschlager
, William B. Rizzo
, Cornelia S. Krausn
, Johannes Limbrock
, Monika Cohen
, Ingrun Anton-Lamprecht
, Dietrich Abeck
, Johannes Ring

TUM Emeriti of Excellence

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The causative biochemical defect has been identified as a deficiency of the enzyme fatty aldehyde dehydrogenase, a component of fatty alcohol: NAD⁺ oxidoreductase. We present a case report of an affected 3.5 year old white girl to give an overview of the pre- and postnatal diagnostic procedures as well as of therapeutic options.

Translated title of the contribution	Sjogren-Larsson Syndrome
Original language	German
Pages (from-to)	250-255
Number of pages	6
Journal	Hautarzt
Volume	51
Issue number	4
DOIs	https://doi.org/10.1007/s001050051113
State	Published - Apr 2000

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10.1007/s001050051113

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title = "Sjogren-Larsson-Syndrom",

abstract = "This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The causative biochemical defect has been identified as a deficiency of the enzyme fatty aldehyde dehydrogenase, a component of fatty alcohol: NAD+ oxidoreductase. We present a case report of an affected 3.5 year old white girl to give an overview of the pre- and postnatal diagnostic procedures as well as of therapeutic options.",

keywords = "Congenital ichthyosis, Mental retardation, Spastic plegia",

author = "Matthias M{\"o}hrenschlager and Rizzo, \{William B.\} and Krausn, \{Cornelia S.\} and Johannes Limbrock and Monika Cohen and Ingrun Anton-Lamprecht and Dietrich Abeck and Johannes Ring",

year = "2000",

month = apr,

doi = "10.1007/s001050051113",

language = "Deutsch",

volume = "51",

pages = "250--255",

journal = "Hautarzt",

issn = "0017-8470",

publisher = "Springer Medizin",

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TY - JOUR

T1 - Sjogren-Larsson-Syndrom

AU - Möhrenschlager, Matthias

AU - Rizzo, William B.

AU - Krausn, Cornelia S.

AU - Limbrock, Johannes

AU - Cohen, Monika

AU - Anton-Lamprecht, Ingrun

AU - Abeck, Dietrich

AU - Ring, Johannes

PY - 2000/4

Y1 - 2000/4

N2 - This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The causative biochemical defect has been identified as a deficiency of the enzyme fatty aldehyde dehydrogenase, a component of fatty alcohol: NAD+ oxidoreductase. We present a case report of an affected 3.5 year old white girl to give an overview of the pre- and postnatal diagnostic procedures as well as of therapeutic options.

AB - This rare, ubiquitous neurocutaneous disorder is inherited in an autosomal recessive fashion. Its primary clinical manifestations are congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The causative biochemical defect has been identified as a deficiency of the enzyme fatty aldehyde dehydrogenase, a component of fatty alcohol: NAD+ oxidoreductase. We present a case report of an affected 3.5 year old white girl to give an overview of the pre- and postnatal diagnostic procedures as well as of therapeutic options.

KW - Congenital ichthyosis

KW - Mental retardation

KW - Spastic plegia

UR - https://www.scopus.com/pages/publications/0342696153

U2 - 10.1007/s001050051113

DO - 10.1007/s001050051113

M3 - Artikel

C2 - 10810660

AN - SCOPUS:0342696153

SN - 0017-8470

VL - 51

SP - 250

EP - 255

JO - Hautarzt

JF - Hautarzt

IS - 4

ER -

Sjogren-Larsson-Syndrom

Abstract

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