[Sjogren-Larsson syndrome: two cases with delayed diagnosis].

Abstract

INTRODUCTION:

Sjögren-Larsson syndrome (SJS) is an autosomal-recessive disorder. Patients suffer from congenital ichtyosis, mental retardation and symmetric spastic paralysis. Ichtyosis is usually pronounced and associated with erythroderma. Neurological manifestations occur usually between 4 and 13 months of age. This genetic disease is due to fatty acid aldehyde dehydrogenase (FALDH) deficiency, leading to an accumulation of long-chain alcohols. The gene has been mapped to chromosome 17.

CASE REPORTS:

A 52-year-old woman was hospitalized because of a severe erythroderma with ichtyosis. She suffered from epilepsy, spastic diplegia and mental retardation (Little disease has been diagnosed). The association of spastic paraparesia and ichtyosiform erythroderma suggested the diagnosis of SJS. This was confirmed by the very low level of FALDH activity. A 27-year-old patient was hospitalized for the recent onset paraparesia. Erythematous patches were observed on arm pits and buttocks. The diagnosis of SJS was not confirmed by FALDH assay.

DISCUSSION:

Diagnosis of Sjögren-Larsson syndrome is a very rare disease in France. It is useful to evoke the diagnosis when spastic paraparesia is associated with these unusual cutaneous signs.

• Authors: Laurent Misery, Jean-Christophe Antoine, Renaud Touraine, Ronald Wanders, Séverine Maitre, Christina Has, Jean-Luc Perrot, Frédéric Cambazard
• Journal: Annales de medecine interne (Ann Med Interne (Paris)) Vol. 153 Issue 4 Pg. 280-2 (Jun 2002) ISSN: 0003-410X [Print] France
• Vernacular Title: Syndrome de Sjögren-Larsson.
• PMID: 12218895 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Aldehyde Oxidoreductases
• long-chain-aldehyde dehydrogenase

Topics

• Adult
• Aldehyde Oxidoreductases (analysis, pharmacology)
• Dermatitis, Exfoliative (etiology)
• Diagnosis, Differential
• Female
• Humans
• Intellectual Disability (etiology)
• Middle Aged
• Paraparesis, Spastic (etiology)
• Sjogren-Larsson Syndrome (complications, pathology)