Cover Image

SJOGREN LARSSON SYNDROME- a case report

ROKINI NATARAJAN

Abstract


Abstract : SJOGREN LARSSON SYNDROME(SLS) is a rare
autosomal recessive disorder characterized by a triad of
mental retardation, congenital ichthyosis and diplegia or
tetraplegia. This disorder needs to be differentiated from other
neurocutaneous disorders like Neutral lipid storage disease,
Refsums disease and HID syndrome (Hysterix like Ichthyosis
and Deafness). We report here a classical case of SLS with
features of congenital ichthyosis, moderate mental retardation
and spastic paraparesis.
Keyword :SLS(Sjogren Larsson syndrome), ichthyosis, diplegia,
paraparesis, FALDH(fatty aldehyde dehydrogenase).


Full Text:

PDF

References


Jagell S, Gustavson K-H, Holmgren G: Sjogren-Larsson

syndrome in Sweden: a clinical, genetic and

epidemiological study. Clin Genet 1981, 19:233-256.

Jagell S, Liden S. Ichthyosis in Sjogren-Larsson syndrome. Clin

Genet 1982;21:243-52.

Nigro JF, Rizzo WB, Esterly NB. Redefining the Sjogren-Larsson

syndrome: Atypical findings in three siblings and implications

regarding diagnosis. J Am Acad Dermatol 1996;35: 678-84.

M.R.Judge, W.H.I.Mclean & C.S.Munro. Disorders of

keratinization. Chapter 19: ROOK’s textbook of dermatology, eighth

edition.

Carney G, Wei S, Rizzo WB: Sjögren-Larsson syndrome: seven

novel mutations in the fatty aldehyde dehydrogenase gene

ALDH3A2. Hum Mutat 2004, 24:186.

Uppal M, Srinivas CR, Thowfeeq KT. Sjogren-Larsson syndrome:

Report of two cases. Indian J Dermatol Venereol Leprol

;70:110-1.

Van Domburg PH, Willemsen MA, Rotteveel JJ, de Jong JG,

Thijssen HO, Heerschap A, Cruysberg JR, Wanders RJ, Gabreëls

FJ, Steijlen PM: Sjogren-Larsson Syndrome: Clinical and MRI/MRS

findings in FALDH deficient patients. Neurology 1999, 52:1345-

Rizzo WB, Craft DA. Sjogren-Larsson syndrome: deficient activity

of the fatty aldehyde dehydrogenase component of fatty alcohol:

NAD oxidoreductase in cultured fibroblasts. J Clin Invest

;88:1643-8.

Mittal RR, Mittal RL, Singla A, Mittal S. Sjogren-Larsson

syndrome. Indian J Dermatol Venereol Leprol 1991;57:98-9.

Willemsen MA, Lutt MA, Steijlen PM et al. Clinical and

biochemical effects of zileuton in patients with the Sjogren–Larsson

syndrome. Eur J Pediatr 2001; 160.

Gloerich J, Ijlst L, Wanders RJ et al. Bezafi brate induces

FALDH in human fi broblasts:

implications for Sjögren–Larsson syndrome. Mol Genet Metabol

; 89:111-5.

Haug S, Braun-Falco M. Adeno-associated virus vectors are

able to restore fatty aldehyde dehydrogenase deficiency.

Implications for gene therapy in Sjogren–Larsson syndrome. Arch

Dermatol Res 2005; 296: 568–72.


Refbacks

  • There are currently no refbacks.


Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An initiative of The Tamil Nadu Dr M.G.R. Medical University