Contributions
Abstract: EP1343
Type: ePoster
Abstract Category: Clinical aspects of MS - Diagnosis and differential diagnosis
Background: Neuromyelitis optica (NMO) is a rare demyelinating disease of the central nervous system and sometimes associated with other autoimmune diseases. While most cases are sporadic, some cases of AQP4 IgG positive familial NMO have been described suggesting a genetic component.
Objectives: The objective is to illustrate the clinical courses of NMO in a mother-daughter pair supporting a hereditary predisposition and to highlight the association with other auto-immune diseases.
Observations: NMO was diagnosed in a 28 years old woman suffering from an optic neuritis and 3 months later a longitudinally transverse extensive myelitis. AQP4 IgG were positives. Recovery was good with high dose methylprednisolone. She had no other autoimmune disease specially no Sjogren Syndrome (SS). Mycophénolate Mofétil has been given, no new relapse occurs and her neurological exam is stable (EDSS 2.0). Her sister suffers from autoimmune hypothyroidism and primary biliary cirrhosis.
Her 60-year-old mother had a history of severe Sjogren"s syndrome with xerophtalmia, xerostomia and arthralgia. She had positives Sjogren Syndrome A (SSA) antibodies and was Chilsom IV at the salivary gland biopsy. SS was complicated with kidney glomerulopathy, mononeuritis multiplex, cutaneous vasculitis and pulmonary involvement.
Eleven years after diagnosis of SS, she developed a longitudinally transverse extensive myelitis with presence of AQP4-IgG. Rituximab then twelve cyclophosphamide courses have been given. No new NMO relapse was observed.
Conclusions: This is a new report of a familial case of NMO which is very uncommon. It highlights the association with SS in familial NMO which have been previously described and a probable anticipation genetic phenomenon. Even if the situation is unusual, these observations suggest a genetic anticipation predisposition specially in cases of familial autoimmune diseases.
Disclosure: Vialatte: nothing to disclose
Papeix : notrhing to disclose
Maugest : nothing to disclose
Fromont: notrhing to disclose
Cacoub : nothing to disclose
Saadoun : nothing to disclose
Moreau: nothing to disclose
Abstract: EP1343
Type: ePoster
Abstract Category: Clinical aspects of MS - Diagnosis and differential diagnosis
Background: Neuromyelitis optica (NMO) is a rare demyelinating disease of the central nervous system and sometimes associated with other autoimmune diseases. While most cases are sporadic, some cases of AQP4 IgG positive familial NMO have been described suggesting a genetic component.
Objectives: The objective is to illustrate the clinical courses of NMO in a mother-daughter pair supporting a hereditary predisposition and to highlight the association with other auto-immune diseases.
Observations: NMO was diagnosed in a 28 years old woman suffering from an optic neuritis and 3 months later a longitudinally transverse extensive myelitis. AQP4 IgG were positives. Recovery was good with high dose methylprednisolone. She had no other autoimmune disease specially no Sjogren Syndrome (SS). Mycophénolate Mofétil has been given, no new relapse occurs and her neurological exam is stable (EDSS 2.0). Her sister suffers from autoimmune hypothyroidism and primary biliary cirrhosis.
Her 60-year-old mother had a history of severe Sjogren"s syndrome with xerophtalmia, xerostomia and arthralgia. She had positives Sjogren Syndrome A (SSA) antibodies and was Chilsom IV at the salivary gland biopsy. SS was complicated with kidney glomerulopathy, mononeuritis multiplex, cutaneous vasculitis and pulmonary involvement.
Eleven years after diagnosis of SS, she developed a longitudinally transverse extensive myelitis with presence of AQP4-IgG. Rituximab then twelve cyclophosphamide courses have been given. No new NMO relapse was observed.
Conclusions: This is a new report of a familial case of NMO which is very uncommon. It highlights the association with SS in familial NMO which have been previously described and a probable anticipation genetic phenomenon. Even if the situation is unusual, these observations suggest a genetic anticipation predisposition specially in cases of familial autoimmune diseases.
Disclosure: Vialatte: nothing to disclose
Papeix : notrhing to disclose
Maugest : nothing to disclose
Fromont: notrhing to disclose
Cacoub : nothing to disclose
Saadoun : nothing to disclose
Moreau: nothing to disclose