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Sjogren-Larsson syndrome: A rare neurocutaneous disorder.

Subramanian V, Hariharan P, Balaji J - J Pediatr Neurosci (2016 Jan-Mar)

Bottom Line: Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase.The pathology behind this syndrome is the failure of degradation of fatty aldehydes.This case is presented for its rarity.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatric Neurology, Institute of Social Paediatrics, Stanley Medical College and Hospital, Chennai, Tamil Nadu, India.

ABSTRACT
Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.

No MeSH data available.


Related in: MedlinePlus

Case photograph of Sjogren-Larsson syndrome
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Figure 2: Case photograph of Sjogren-Larsson syndrome

Mentions: On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face [Figure 1]. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present [Figure 2]. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.


Sjogren-Larsson syndrome: A rare neurocutaneous disorder.

Subramanian V, Hariharan P, Balaji J - J Pediatr Neurosci (2016 Jan-Mar)

Case photograph of Sjogren-Larsson syndrome
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4862294&req=5

Figure 2: Case photograph of Sjogren-Larsson syndrome
Mentions: On examination, diffuse large brown colored diamond shaped adherent scales were present over the skin of all limbs implicating generalized ichthyosis with relative sparing of face [Figure 1]. Seborrheic dermatitis of scalp was present. Diffuse hyperpigmented macules were present over the flexural areas and abdominal skin. Kyphoscoliosis of trunk was present [Figure 2]. On assessment of higher cortical functions, he had global developmental delay. He is not able to stand till date. He is able to speak only monosyllables and obeys simple commands. Central nervous system motor examination showed spasticity, reduced power (3/5 in lower limbs and 4/5 in upper limbs), exaggerated deep tendon reflexes of all four limbs, and bilateral plantar extensor. Cranial nerve examination was normal. There was no sensory deficit or cerebellar signs. Eye examination revealed ectropion, mildly congested conjunctiva, and small opacity in the cornea at 8 o’clock position. Fundus examination revealed glistening spots in the foveal and parafoveal region. The triad of congenital ichthyosis, mental retardation and spastic diplegia arouses the suspicion of SLS.

Bottom Line: Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase.The pathology behind this syndrome is the failure of degradation of fatty aldehydes.This case is presented for its rarity.

View Article: PubMed Central - PubMed

Affiliation: Department of Paediatric Neurology, Institute of Social Paediatrics, Stanley Medical College and Hospital, Chennai, Tamil Nadu, India.

ABSTRACT
Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehydes. This case is presented for its rarity.

No MeSH data available.


Related in: MedlinePlus