Abstract

TRANEBJAERG SVEJGAARD SYNDROME ASSOCIATED WITH X-LINKED MENTAL RETARDATION AND PSORIASIS

*Vennapusa Lakshmi Tanuja Reddy

ABSTRACT

Tranebjaerg Svejgaard syndrome (TSS) is a X-linked intellectual disability syndrome mainly characterized by seizures and psoriasis and indicative to a specific sign, symptoms associated with a health challenge. The relationship between the inheritance to be X-linked recessive and severe mental retardation. Mental retardation (MR) is clearly caused by an inborn error of metabolism, such as in the Hunter syndrome or in Lesch-Nyhan and appears to be accessory with respect to the prevailing disorder which is in Duchenne muscular dystrophy. Most common symptoms are Generalized seizures, status epilepticus, stooping posture, ataxic gait, and contractures of fingers, hypotonic diplegia, intelligible speech, psoriasis vulgaris with pustules, Asphyxia. Physical abnormalities like Hypotonia, hyperextensible joints, large tongue and large, everted ears. Ataxic gait, thoracic dextroconvex scoliosis, convergent strabismus, big tongue, open mouth, long face, long slender fingers, curved 5th fingers, bilaterally proximal placed thumbs and bilateral simian crease. MR is mostly undiagnosed in Children and Adults which are ADHD, Alzheimer Disease, Bipolar Disorder, Schizophrenia, Epilepsy. TSS can be treated with symptomatically in case of psoriasis the possible First-line treatment treatment will be and soap substitute for washing opical steroids are used for anti-inflammatory effect. Systemic treatments for adult include oral Prednisolone, Methotrexate, Ciclosporin and Azathioprine.

Keywords: Tranebjaerg Svejgaard syndrome, Mental retardation, X-linked recessive syndrome.