title: Sjögren-Larsson syndrome: importance of early diagnosis and aggressive physiotherapy.
abstract: 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. His quadriplegia was managed by aggressive physiotherapy and mental retardation by stimulation techniques. After a 3-year follow up, significant improvement was seen in his motor and mental disability. This case highlights the importance of clinical diagnosis and early intervention for such a disabling disorder.
authors.forename: Sushruta
authors.initials: S
authors.lastname: Kathuria
authors.forename: Shikha
authors.initials: S
authors.lastname: Arora
authors.forename: V
authors.initials: V
authors.lastname: Ramesh
mesh_terms: D002675:Child, Preschool; D042241:Early Diagnosis; D004643:Emollients / Q000627:therapeutic use; D006633:Histamine Antagonists / Q000627:therapeutic use; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000628:therapy; D008297:Male; D009128:Muscle Spasticity / Q000175:diagnosis / Q000628:therapy; D026741:Physical Therapy Modalities; D011782:Quadriplegia / Q000628:therapy*; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy*; D016896:Treatment Outcome
chemical_list: D004643:Emollients; D006633:Histamine Antagonists