J Lipid Res 2017 Aug 6;58(8):1648-1660. Epub 2017 Jun 6.

Department of Nutritional Toxicology, Institute of Nutritional Science, University of Potsdam, 14558 Nuthetal, Germany

Sphingosine 1-phosphate (S1P), a bioactive lipid involved in various physiological processes such as cell proliferation and apoptosis, can be irreversibly cleaved by S1P lyase, yielding phosphoethanolamine and (2E)-hexadecenal (2EHD). The latter metabolite, an α,β-unsaturated fatty aldehyde, may be susceptible to nucleophilic attack by cellular biomolecules. Hence, we studied whether 2EHD forms reaction products with GSH and proteins in vitro. Read More

Clin Genet 2017 May 23. Epub 2017 May 23.

Department of Rehabilitation medicine, CHA Bundang Medical Center, CHA University.

Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures. Read More

Isr Med Assoc J 2016 Oct;18(10):636-638

Department of Pediatric Hematology-Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Ein Kerem Campus, Jerusalem, Israel.

PLoS One 2017 17;12(4):e0174572. Epub 2017 Apr 17.

Unit of Rheumatology, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

Background: Systemic lupus erythematosus (SLE), is a heterogeneous disease which predominantly affects young females (90%). SLE is associated with a shorter life expectancy than in the general population. Standardized mortality ratios (SMR) of 2. Read More

Actas Dermosifiliogr 2017 Jul - Aug;108(6):601-603. Epub 2017 Apr 11.

Department of Dermatology, Hospital Universitario de Canarias, Tenerife, Spain.

Retin Cases Brief Rep 2017 Mar 15. Epub 2017 Mar 15.

*Harkness Eye Institute, Columbia University Medical Center; and †Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida.

Purpose: To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren-Larsson Syndrome in three adult siblings.

Methods: Three adult siblings with Sjogren-Larsson Syndrome underwent ophthalmic examination and imaging.

Results: Crystalline maculopathy and subretinal deposits, presumably lipofuscin accumulation, with macular atrophy were present in varying degrees in all three adult siblings. Read More

J Child Neurol 2017 Jan 6;32(1):100-103. Epub 2016 Oct 6.

1 Division of Pediatric Neurosurgery, Department of Neurosurgery, NYU Langone Medical Center, NY, USA.

Intrathecal baclofen therapy is widely accepted as a treatment option for patients with severe spasticity. The current treatment of spasticity in patients with Sjögren-Larsson syndrome is largely symptomatic, given that no effective causal therapy treatments are available. We report the outcome of 2 patients with Sjögren-Larsson syndrome who had pump implantation for intrathecal baclofen. Read More

Neurology 2017 Jan;88(1):e1-e4

From the Departments of Neurology (M.N., P.S.B., N.G., S.S., P.S.M., A.B.T.), Clinical Neurosciences (S.C.), and Neuro-Imaging and Interventional Radiology (R.D.B.), National Institute of Mental Health and Neurosciences, Bangalore, India.

Muscle Nerve 2017 Apr 28;55(4):605-608. Epub 2016 Nov 28.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, Minnesota, 55905, USA.

Introduction: Sjögren syndrome is thought to be a lymphocyte-driven process. Peripheral nervous system involvement occurs in about 20%-25% of patients. A sensory-predominant, large-fiber peripheral neuropathy is most common, and it is usually associated with a subacute to chronic presentation. Read More

Acta Ophthalmol 2016 Nov 7;94(7):e663-e664. Epub 2016 Apr 7.

Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

Expert Opin Orphan Drugs 2016 Apr 10;4(4):395-406. Epub 2016 Mar 10.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.

Introduction: Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive retinopathy. It is caused by inactivating mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and results in abnormal metabolism of long-chain aliphatic aldehydes and alcohols. The potential disease mechanisms leading to symptoms include 1) accumulation of toxic fatty aldehydes that form covalent adducts with lipids and membrane proteins; 2) physical disruption of multi-lamellar membranes in skin and brain; 3) abnormal activation of the JNK cell signaling pathway; and 4) defective farnesol metabolism resulting in abnormal PPAR-α dependent gene expression. Read More

Korean J Pediatr 2016 Jun 30;59(6):276-9. Epub 2016 Jun 30.

Department of Genetics and Molecular Biology, Iran University of Medical Sciences, Tehran, Iran.

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Read More

Pediatr Neurol 2016 Sep 25;62:73-4. Epub 2016 Apr 25.

Division of Neurology, Children's Hospital of Michigan, Detroit, Michigan; Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan; Wayne State University School of Medicine, Detroit, Michigan.

J Pediatr Neurosci 2016 Jan-Mar;11(1):68-70

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

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. Read More

BMJ Case Rep 2016 Apr 19;2016:10.1136/bcr-2016-215110. Epub 2016 Apr 19.

Department of Neurology, Bangur Institute of Neurosciences (BIN), IPGMER, Kolkata, West Bengal, India.

Sjögren-Larsson syndrome is a recessively inherited disease caused by a deficiency of fatty aldehyde dehydrogenase with presenting features of congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The basic pathogenic mechanism is deficiency of fatty aldehyde dehydrogenase, which may lead to an accumulation of long-chain fatty alcohols hampering cell membrane integrity, which further disrupts the barrier function of skin and white matter of the brain. MRI of the brain shows diffuse symmetrical white matter hyperintensities on T2-weighted sequences. Read More

J Biol Chem 2016 May 6;291(22):11676-88. Epub 2016 Apr 6.

From the Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo 060-0812, Japan,

The fatty aldehyde dehydrogenase (FALDH) ALDH3A2 is the causative gene of Sjögren Larsson syndrome (SLS). To date, the molecular mechanism underlying the symptoms characterizing SLS has been poorly understood. Using Aldh3a2(-/-) mice, we found here that Aldh3a2 was the major FALDH active in undifferentiated keratinocytes. Read More

J Dermatol 2016 Mar;43(3):252-63

Department of Dermatology, Faculty of Medicine, Kagawa University, Kagawa, Japan.

Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. Read More

Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.

The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.

Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More

Data Brief 2015 Dec 25;5:745-51. Epub 2015 Oct 25.

Departments of Biochemistry and Chemistry, University of Missouri-Columbia, Columbia, MO 65211, United States.

Enzymes of the aldehyde dehydrogenase (ALDH) superfamily catalyze the nicotinamide adenine dinucleotide-dependent oxidation of aldehydes to carboxylic acids. ALDHs are important in detoxification of aldehydes, amino acid metabolism, embryogenesis and development, neurotransmission, oxidative stress, and cancer. Mutations in genes encoding ALDHs cause metabolic disorders, including alcohol flush reaction (ALDH2), Sjögren-Larsson syndrome (ALDH3A2), hyperprolinemia type II (ALDH4A1), γ-hydroxybutyric aciduria (ALDH5A1), methylmalonic aciduria (ALDH6A1), pyridoxine dependent epilepsy (ALDH7A1), and hyperammonemia (ALDH18A1). Read More

Eur J Dermatol 2015 Sep-Oct;25(5):495-6

Clinical Genetics Department.

Chem Biol Interact 2015 Oct 19;240:60-73. Epub 2015 Aug 19.

Department of Biochemistry and Pharmacology, Post-graduation Program in Pharmaceutical Science, Federal University of Piauí, 64.049-550 Teresina, Brazil.

This study aims to review phytol (PYT), through published articles, periodicals, magazines and patents, which were retrieved from the PM, SD, WS, SP; DII, WIPO, CIPO, USPTO and INPI databases. Among the 149 articles and 62 patents, 27.52% articles and 87. Read More

Anat Rec (Hoboken) 2015 Sep 16;298(9):1622-34. Epub 2015 Jul 16.

Department of Biological Sciences, State University of New York, University at Albany, Albany, New York.

Sjögren's syndrome (SS), an autoimmune exocrinopathy, is associated with dysfunction of the secretory salivary gland epithelium, leading to xerostomia. The etiology of SS disease progression is poorly understood as it is typically not diagnosed until late stage. Since mouse models allow the study of disease progression, we investigated the NOD/ShiLtJ mouse to explore temporal changes to the salivary epithelium. Read More

Acta Derm Venereol 2016 Feb;96(2):255-6

Department of Pediatrics, Radboud university medical centre (Radboudumc), PO Box 9101, 6500 HB Nijmegen, The Netherlands.

J Dermatol 2015 Jul 9;42(7):706-9. Epub 2015 Apr 9.

Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder inherited in an autosomal recessive fashion. SLS patients are characterized by lipid metabolism error, primarily leading to cardinal signs of ichthyosis, spasticity and mental retardation. Additional signs include short stature, epilepsy, retinal abnormalities and photophobia. Read More

Ophthalmology 2015 Aug 14;122(8):1730-2. Epub 2015 Mar 14.

Department of Ophthalmology and Visual Science, Stanley M. Truhlsen Eye Institute, Omaha, Nebraska; VA Nebraska-Western Iowa Health Care System, Omaha, Nebraska. Electronic address:

Front Biosci (Landmark Ed) 2015 Jan 1;20:335-76. Epub 2015 Jan 1.

Medical Biotechnology Division, School of Biosciences and Technology, VIT University, Vellore, Tamil Nadu 632014, India.

The aldehyde dehydrogenase gene superfamily comprises of 19 genes and 3 pseudogenes. These superfamily genes play a vital role in the formation of molecules that are involved in life processes, and detoxification of endogenous and exogenous aldehydes. ALDH superfamily genes associated mutations are implicated in various diseases, such as pyridoxine-dependent seizures, gamma-hydroxybutyric aciduria, type II Hyperprolinemia, Sjogren-Larsson syndrome including cancer and Alzheimer's disease. Read More

Indian J Pediatr 2015 May 24;82(5):487-9. Epub 2014 Dec 24.

Division of Pediatric Neurology, Department of Pediatrics, BLK Super Speciality Hospital, Pusa Road, New Delhi, 110005, India,

Mol Genet Metab 2015 Jan 4;114(1):51-4. Epub 2014 Nov 4.

Department of Paediatric Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition, and Behaviour, Geert Grooteplein zuid 10, route 801, 6525 GA Nijmegen, The Netherlands. Electronic address:

Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a deficiency of CGI-58 and in intracellular accumulation of triacylglycerol in skin and liver. Patients are mainly characterized by congenital ichthyosis, but the clinical phenotype is very heterogeneous. Distinct brain involvement has never been described. Read More

J Inherit Metab Dis 2015 Jan 29;38(1):111-21. Epub 2014 Nov 29.

Lab Nerve Regeneration, Instituto de Biologia Molecular e Celular - IBMC, Porto, Portugal.

Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata (RCDP). The complex plasmalogen biosynthetic pathway involves multiple enzymatic steps carried-out in peroxisomes and in the endoplasmic reticulum. The rate limiting step in the biosynthesis of plasmalogens resides in the formation of the fatty alcohol responsible for the formation of an intermediate with an alkyl-linked moiety. Read More

Anal Chem 2014 Sep 3;86(18):9065-73. Epub 2014 Sep 3.

Department of Nutritional Toxicology, Institute of Nutritional Science, University of Potsdam , Arthur-Scheunert-Allee 114-116, 14558 Nuthetal, Germany.

Sphingosine 1-phosphate (S1P), a bioactive lipid involved in various physiological processes, can be irreversibly degraded by the membrane-bound S1P lyase (S1PL) yielding (2E)-hexadecenal and phosphoethanolamine. It is discussed that (2E)-hexadecenal is further oxidized to (2E)-hexadecenoic acid by the long-chain fatty aldehyde dehydrogenase ALDH3A2 (also known as FALDH) prior to activation via coupling to coenzyme A (CoA). Inhibition or defects in these enzymes, S1PL or FALDH, result in severe immunological disorders or the Sjögren-Larsson syndrome, respectively. Read More

Nat Commun 2014 Jul 22;5:4439. Epub 2014 Jul 22.

1] European Molecular Biology Laboratory, Grenoble Outstation, 6 rue Jules Horowitz, 38042 Grenoble, France [2] Unit of Virus Host-Cell Interactions, University of Grenoble Alpes-EMBL-CNRS, 6 rue Jules Horowitz, 38042 Grenoble, France [3].

Mutations in the gene coding for membrane-bound fatty aldehyde dehydrogenase (FALDH) lead to toxic accumulation of lipid species and development of the Sjögren-Larsson Syndrome (SLS), a rare disorder characterized by skin defects and mental retardation. Here, we present the crystallographic structure of human FALDH, the first model of a membrane-associated aldehyde dehydrogenase. The dimeric FALDH displays a previously unrecognized element in its C-terminal region, a 'gatekeeper' helix, which extends over the adjacent subunit, controlling the access to the substrate cavity and helping orientate both substrate cavities towards the membrane surface for efficient substrate transit between membranes and catalytic site. Read More

Indian Dermatol Online J 2014 Apr;5(2):185-8

Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six children with SLS. Read More

Rev Neurol (Paris) 2014 Apr 3;170(4):297-8. Epub 2014 Apr 3.

Service de dermatologie, hôpital la Rabta, place Bab Saadoun Jabbari, 1007 Tunis, Tunisie.

Arch Soc Esp Oftalmol 2014 Dec 27;89(12):504-7. Epub 2013 Dec 27.

Servicio de Oftalmología, Hospital Universitario Central de Asturias, Oviedo, España.

Case Report: A case is presented of a thirty year-old male with ichthyosis, mental retardation, epilepsy and spasticity. Ocular examination showed a best-corrected visual acuity of 0.5 and bilateral crystalline maculopathy. Read More

Rheum Dis Clin North Am 2014 Feb;40(1):103-24

Medical Intensive Care Unit, Department of Medicine, Penn Presbyterian Medical Center, University of Pennsylvania Health System, 51 North 39th Street, Cupp Building, Philadelphia, PA 19104-2699, USA. Electronic address:

PAH associated with connective tissue diseases is associated with significant functional impairment and morbidity, and carries with it a poor prognosis. The mortality is as high as 10% to 15% in the first year after diagnosis; making it a devastating disease. The availability of ever-increasing numbers of treatment options in the recent era have improved survival in this patient population and have made early and accurate diagnosis a more important goal. Read More

Cornea 2014 Jan;33(1):18-21

Department of Ophthalmology, Facultad de Medicina, Universidad Nacional de Colombia, Bogota, Colombia.

Purpose: The aim was to evaluate the effect of autologous platelet-rich plasma on lacrimal function in patients with severe dry eye.

Methods: A prospective interventional case series design was adopted. Four patients with severe lacrimal dysfunction and severe dry eye were treated. Read More

Ann Indian Acad Neurol 2013 Jul;16(3):425-7

Department of Pediatric Neurology, Cukurova University Medical Faculty, Adana/Turkey.

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. Read More

Biochim Biophys Acta 2014 Mar 12;1841(3):377-89. Epub 2013 Sep 12.

Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE 68198-5456, USA. Electronic address:

Normal fatty aldehyde and alcohol metabolism is essential for epidermal differentiation and function. Long-chain aldehydes are produced by catabolism of several lipids including fatty alcohols, sphingolipids, ether glycerolipids, isoprenoid alcohols and certain aliphatic lipids that undergo α- or ω-oxidation. The fatty aldehyde generated by these pathways is chiefly metabolized to fatty acid by fatty aldehyde dehydrogenase (FALDH, alternately known as ALDH3A2), which also functions to oxidize fatty alcohols as a component of the fatty alcohol:NAD oxidoreductase (FAO) enzyme complex. Read More

Seikagaku 2013 Jul;85(7):553-7

Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Kita 12-jo, Nishi 6-choume, Kita-ku, Sapporo 060-0812, Japan.

Insect Biochem Mol Biol 2013 Aug 29;43(8):675-82. Epub 2013 Apr 29.

Department of Biological Sciences, Florida International University, Miami, FL 33199, USA.

The juvenile hormones (JHs) play a central role in insect reproduction, development and behavior. Interrupting JH biosynthesis has long been considered a promising strategy for the development of target-specific insecticides. Using a combination of RNAi, in vivo and in vitro studies we characterized the last unknown biosynthetic enzyme of the JH pathway, a fatty aldehyde dehydrogenase (AaALDH3) that oxidizes farnesal into farnesoic acid (FA) in the corpora allata (CA) of mosquitoes. Read More

Acta Derm Venereol 2013 Sep;93(5):579-80

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Japan.

Semin Perinatol 2013 Feb;37(1):26-31

Department of Dermatology, Yale University, New Haven, CT 06520, USA.

The ichthyoses encompass a variety of genetic disorders marked by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant associated morbidity and mortality, with the majority of complications arising as a result of impaired barrier function. This article reviews presentations of ichthyosis in the neonate, outlines risks and complications, and provides strategies for management. Read More

Acta Ophthalmol 2014 Mar 7;92(2):138-42. Epub 2013 Feb 7.

Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, the NetherlandsUniversity Eye Clinic, Maastricht, the NetherlandsDepartment of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, the NetherlandsDepartment of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

Purpose: Macular pigment (MP) deficit has been described in macular teleangiectasia type 2 (MTA; acquired MP loss) and in Sjögren-Larsson syndrome (SLS; hereditary MP deficiency). Central blue light-induced fundus autofluorescence (FAF) and blue light fundus reflectance (BLR) are thought to reflect MP distribution. This study was performed to describe the macular morphology in SLS and MTA by multimodal imaging to further investigate the causes of FAF and BLR changes in these disorders. Read More

J Child Neurol 2013 Oct 3;28(10):1259-65. Epub 2012 Oct 3.

1Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.

Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The authors describe 2 unrelated Honduran patients who carried the same novel homozygous nonsense mutation (c.1309A>T, p. Read More

Dermatol Online J 2012 Sep 15;18(9):11. Epub 2012 Sep 15.

Sjögren-Larsson syndrome (SLS) is a congenital ichthyotic disorder with spasticity. We describe a case of a 5-year-old boy with SLS diagnosed clinically based on congenital ichythosis, quadriplegia, and mental retardation. The child responded well to emollients and antihistamines. Read More

Bull Soc Belge Ophtalmol 2012 (320):11-5

Service d'ophtalmologie CHU La Rabta, Tunis, Tunisie.

Purpose: To study the clinical and the optical coherence tomography (OCT) features of crystalline_macular dystrophy in a 14-year-old man with Sjögren-Larsson syndrome (SLS).

Case Report: A 14-year-old man was hospitalized because of a severe hyperkeratosis, epilepsy, spastic paraplegia and mental retardation. The diagnosis of SLS was considered. Read More

Int Ophthalmol 2012 Oct 30;32(5):495-8. Epub 2012 Aug 30.

Department of Ophthalmology, University Hospital Hassan II Fez Morocco, Fès Principal, Morocco.

Sjögren-Larsson syndrome is an autosomal-recessive disease caused by a deficiency of the microsomal fatty aldehyde dehydrogenase enzyme. The syndrome is defined by congenital ichthyosis, spasticity, mental retardation and ocular features. We report the case of a 10-year-old boy presenting with bilateral visual impairment and photophobia. Read More

J Inherit Metab Dis 2012 Nov 26;35(6):955-62. Epub 2012 Jul 26.

Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.

This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic. Read More

J Pediatr Orthop B 2012 Nov;21(6):583-6

Paediatric Orthopaedic Unit, Christian Medical College, Vellore, Tamil Nadu, India.

Patients with Sjögren-Larsson syndrome, an autosomal recessive syndrome characterized by ichthyosis, spastic diplegia/quadriplegia, mental retardation and ocular features that include pigmentary changes in the retina, rarely present to the orthopaedic surgeon. We detail a rare and unusual presentation of Sjögren-Larsson syndrome in an adolescent boy with bilateral femoral neck fractures. Read More

J Inherit Metab Dis 2013 May 20;36(3):411-25. Epub 2012 Jul 20.

Neurometabolic Unit, Pitié-Salpêtrière Hospital, AP-HP & University Pierre and Marie Curie, Paris, France.

We wish to delineate a novel, and rapidly expanding, group of inborn errors of metabolism with neurological/muscular presentations: the defects in phospholipids, sphingolipids and long chain fatty acids biosynthesis. At least 14 disorders have been described so far. Clinical presentations are diverse but can be divided into (1) diseases of the central nervous system; (2) peripheral neuropathies; and (3) muscular/cardiac presentations. Read More