Congenital Ichthyosis, Spastic Diplegia and Mental Deficiency

Richards, B. W.; Rundle, A. T.; Wilding, Anna

doi:10.1111/j.1365-2788.1957.tb00007.x

Cited by 10 publications

(3 citation statements)

References 9 publications

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“…NAD oxidoreductase (FAO) in leukocytes and fibroblasts resulting in defective essential fatty acid metabolism 4-8,13-15. Congenital ichthyosis with spastic paraplegia, mental retardation and retinal changes should lead one to suspect Sjogren-Larsson syndrome . Patients usually 2,16 have a dry and mildly erythrodermic skin at birth. Scaling develops within the first three months of life.…”

Section: Discussionmentioning

confidence: 99%

Sjogren-Larsson Syndrome

Muzaffar

Suhail

2006

TPMJ

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We present a case report of two brothers suffering from Sjogren-Larsson syndrome, who were bornto consanguineous parents. Sjogren-Larsson syndrome is one of the congenital icthyoses with an autosomal recessiveinheritance . It is characterized by the combination of 1 congenital ichthyosis with spastic diplegia, moderate mentalretardation and retinopathy.2,3,16. Defects in essential fatty acid metabolism have been attributed to as the cause4,8,13,15.

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Section: Discussionmentioning

confidence: 99%

Sjogren-Larsson Syndrome

Muzaffar

Suhail

2006

TPMJ

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“…It occurs in all races and its prevalence has been estimated as 0.4 per 100,000 or lower. Over 200 cases worldwide have been reported [3]. Here we describe two cases in an Iranian family.…”

Section: Introductionmentioning

confidence: 94%

Sjögren-Larsson syndrome in two brothers: a case report

Moghaddam

Safar

Asheghan

et al. 2009

Cases J

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Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. Magnetic resonance imaging showed demyelinating disease in one of these cases. Electrodiagnostic studies were normal in all cases.

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“…In the only family so far reported in this country (Richards, Rundle, and Wilding, 1957), two of four sibs, both girls, were affected. The parents, who were unrelated, and a brother and sister were normal.…”

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confidence: 93%