Sjogren-Larsson Syndrome 01

Topic: Pediatric

Created on Sunday, February 24 2008 by jdmiles

Last modified on Sunday, February 24 2008.

 
        A) It is associated with macular dystrophy
 
        B) Symtpoms include psychosis, dyscoordination, and angular stomatosis
 
        C) It is associated with an acid ceramidase deficiency
 
        D) It has X-linked inheritance
 
        E) It is associated with cerebellar atrophy
 

 

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This question was created on February 24, 2008 by jdmiles.
This question was last modified on February 24, 2008.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) It is associated with macular dystrophy

This answer is correct.

Sjögren-Larsson syndrome is a rare, autosomal recessive neurocutaneous disorder (phakomatosis). Patients present with ichthyosis, mental retardation, and spasticity. It is associated with a mutation in the gene encoding fatty aldehyde dehydrogenase, located on chromosome 17. Patients with Sjögren-Larsson syndrome often have macular dystrophy.  (See References)

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B) Symtpoms include psychosis, dyscoordination, and angular stomatosis

This answer is incorrect.

Sjögren-Larsson syndrome is a rare, autosomal recessive neurocutaneous disorder (phakomatosis). Patients present with ichthyosis, mental retardation, and spasticity. It is associated with a mutation in the gene encoding fatty aldehyde dehydrogenase, located on chromosome 17.   (See References)

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C) It is associated with an acid ceramidase deficiency

This answer is incorrect.

Acid ceramidase is an enzyme which is deficient in Farber disease   (See References)

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D) It has X-linked inheritance

This answer is incorrect.

Sjögren-Larsson syndrome is a rare, autosomal recessive neurocutaneous disorder (phakomatosis). Patients present with ichthyosis, mental retardation, and spasticity. It is associated with a mutation in the gene encoding fatty aldehyde dehydrogenase, located on chromosome 17.   (See References)

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E) It is associated with cerebellar atrophy

This answer is incorrect.

Sjögren-Larsson syndrome is a rare, autosomal recessive neurocutaneous disorder (phakomatosis). Patients present with ichthyosis, mental retardation, and spasticity. It is associated with a mutation in the gene encoding fatty aldehyde dehydrogenase, located on chromosome 17.   (See References)

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References:

1. Haug, S., and Braun-Falco, M. (2006). "Restoration of fatty aldehyde dehydrogenase deficiency in Sjögren-Larsson syndrome." Gene Ther, 13(13) 1021-6. (PMID:16525484)
2. Willemsen, M.A., Cruysberg, J.R., Rotteveel, J.J., Aandekerk, A.L., Van Domburg, P.H., and Deutman, A.F. (2000). "Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome." Am J Ophthalmol, 130(6) 782-9. (PMID:11124298)
3. Pastores, G.M. and Kolodny, E.H. (2004). Inborn errors of metabolism of the nervous system. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 1811-1832 (ISBN:0750674695).	Advertising:
4. Ramelli, G.P., Slongo, T., Weis, J., Tschäppler, H., and Vassella, F. (). "[Pseudoarthrosis in neurofibromatosis type 1]" Klin Padiatr, 212(1) 26-30. (PMID:10719680)

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pediatric
Sjogren-Larsson Syndrome 01
Question ID: 022408148
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/24/2008
Modified: 02/24/2008
Estimated Permutations: 356400