Spastic Paraplegia and Evans Syndrome

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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

OMIM Number

601608

Mode of Inheritance

Autosomal recessive

Description

Spastic Paraplegia and Evans Syndrome is a condition in which, as the name suggests, Spastic Paraplegia is seen in conjunction with Evans Syndrome.  Evans syndrome is a very rare autoimmune disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia, in which the body makes antibodies that destroy the red blood cells, platelets and white blood cells.  Affected individuals usually experience thrombocytopenia and Coombs' positive hemolytic anemia.  Diagnosis of Evans syndrome is based on a complete blood count test showing anemia and thrombocytopenia, associated or not with neutropenia.

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically diverse disorders characterized by lower extremity spasticity and weakness.  HSP clinically can be classified as uncomplicated if neurologic impairment is limited to lower extremity spastic weakness, hypertonic urinary bladder disturbance, and mild diminution of lower extremity vibration sensation.  It is classified as complicated if the impairment present in uncomplicated HSP is accompanied by other systemic or neurologic abnormalities such as ataxia, seizures, cognitive impairment, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy.  Diagnosis of HSP is based on clinical examination.  There is no treatment to prevent or reverse nerve degeneration in HSP.

Molecular Genetics

The molecular basis of spastic paraplegia and Evans syndrome is unknown.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Ahmed et al. (1996) reported two Saudi brothers with hereditary spastic paraplegia and Evans syndrome.  They were born to a first cousin parents.  The first patient was a 13-year old boy, who was diagnosed with spastic diplegia at the age of 18-month.  Evidence of the Evans syndrome began when he had thrombocytopenia, Coomb’s positive warm antibodies and hemolytic anemia at the age of 5 years.  His functional motor ability deteriorated due the onset of hemolytic anemia.  He was wheelchair-bound, although with physiotherapy, he was able to walk again at the age of 8-years.  His 9-year old brother was also diagnosed with congenital spastic diplegia at the age of 14-months.  He also developed thrombocytopenia, Coomb’s positive warm antibodies and hemolytic anemia by the age of 2.5-years.  His functional motor ability deteriorated, he lost his ability to walk, and he was wheelchair-dependent.  In the family a sister had died at one year of age with intracranial hemorrhage; she was said to have had hemolytic anemia and thrombocytopenia. Further details of investigations could not be traced. 

In a later report, Ahmed and Albakrah (2009) described three Saudi siblings (two boys and one girl) affected with Evans syndrome, born to a consanguineous parents.  They all had jaundice, thrombocytopenia and positive direct agglutination test (DAT) on the first day of life.  The first boy presented at the age of 9-months with recurrent epistaxis and petechia of 3 months' duration.  He was pale, jaundiced, with multiple petechia and generalized joint hypermobility.  At the age of 8-years, he died due to congestive heart failure secondary to severe mitral regurgitation following chordal rupture.  His brother presented at the age of 3-years with epistaxis and petechia.  He was pale, with petechia and generalized joint hypermobility.  He was in clinical remission for 3 years without treatment.  The affected sister presented at the age of 18 months with epistaxis.  She was pale, jaundiced, and with generalized petechia.  She died at the age of 33 months due to Pseudomonas septicemia.

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