Sjogren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia

Maia, Maria de Lourdes de Sousa

doi:10.1136/jnnp.37.12.1306

Cited by 12 publications

(5 citation statements)

References 18 publications

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“…Apparently, the characteristic SLS-like ichthyosis alone is not pathognomonic for FALDH deficiency or SLS. 29 None of our patients had convulsive epileptic seizures. 25 Genetically different but clinically similar syndromes have also been described with dwarfism, hypogonadism, and epilepsia ("Rud's syndrome"), alopecia, or bone dysplasias.…”

Section: Discussion Clinical Featuresmentioning

confidence: 70%

Sjögren–Larsson syndrome

et al. 1999

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Section: Discussion Clinical Featuresmentioning

confidence: 70%

Sjögren–Larsson syndrome

et al. 1999

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“…Since the first descriptions by Sjogren (11) in 1956 and Sjögren and Larsson (12) in 1957, of a syndrome characterized by ichthyosis, spastic tetraplegia and oligophrenia, several cases have been reported, 3 of them in Portugal (4,6).…”

Section: Introductionmentioning

confidence: 99%

Pathological Findings in One of Two Siblings with Sjögren-Larsson Syndrome

Silva¹,

Saraiva²,

Gonçalves³

et al. 1980

Eur Neurol

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The clinical features of 2 new cases of Sjögren-Larsson syndrome are described. Histopathological examination of the skin in 1 of the cases revealed an ichthyosis vulgaris, which does not agree with the clinical and genetic classification. In the same case, a neuroblastoma was the cause of death, and neuropathological examination showed a symmetrical demyelination of some ascending and descending long tracts in the medulla and spinal cord.

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“…On examination, electromyogram showed neurogenic changes with polyphasic motor unit potentials of high amplitude and long duration, and motor and sensory conduction velocities were slightly decreased in his lower extremities. Maia (10) also reported SLS with peripheral nerve involvement in two sibs. Our patient also had severe peripheral axonal involvement.…”

Section: Discussionmentioning

confidence: 93%

Report of a Turkish Child with Sjögren‐Larsson Syndrome Associated with Peripheral Nerve Involvement

Akdeniz

Çalka

Anlar

et al. 2003

The Journal of Dermatology

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Sjören-Larsson syndrome is a rare hereditary neurocutaneous disorder characterized by ichthyosis, spastic di- or tetra-plegia, and mild to moderate mental retardation. In this article, we present a nine-year-old girl with the classical features of the syndrome associated with peripheral nerve involvement because of its rare presentation. To the best of our knowledge, only three cases of Sjören-Larsson syndrome with peripheral nerve involvement have been previously reported in the literature. We assume that Sjören-Larsson syndrome involves extensive disorders of the ectodermal tissues, including the peripheral nerves as well as the skin and the central nervous system.

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Sjogren-Larsson syndrome in two sibs with peripheral nerve involvement and bisalbuminaemia

Cited by 12 publications

References 18 publications

Sjögren–Larsson syndrome

Sjögren–Larsson syndrome

Pathological Findings in One of Two Siblings with Sjögren-Larsson Syndrome

Report of a Turkish Child with Sjögren‐Larsson Syndrome Associated with Peripheral Nerve Involvement

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