Severe dysautonomia as a main feature of anti-GAD encephalitis: Report of a paediatric case and literature review

• Published in: European journal of paediatric neurology Vol. 22; no. 3; pp. 548 - 551
• Main Authors: Ben Achour, Nedia, Ben Younes, Thouraya, Rebai, Ibtihel, Ben Ahmed, Melika, Kraoua, Ichraf, Ben Youssef–Turki, Ilhem
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.05.2018; Elsevier
• Subjects: Anti-glutamic acid decarboxylase antibodies; anti-Ma2; Autoimmune; Dysautonomia; Human health and pathology; Life Sciences; Limbic encephalitis; Refractory seizures; Anti-glutamic acid decarboxylase antibodies; Autoimmune; Dysautonomia; anti-Ma2; Refractory seizures; Limbic encephalitis
• ISSN: 1090-3798; 1532-2130
• DOI: 10.1016/j.ejpn.2018.01.004

Anti-glutamic acid decarboxylase (anti-GAD65) antibodies are a rare cause of autoimmune encephalitis. This entity is mainly recognized in adults and very few cases were reported in children. We report on a paediatric case of anti-GAD encephalitis with severe presentation and uncontrollable dysautonomia. A 9-year-old girl was referred to our department for refractory seizures and behavioral disturbances. Brain magnetic resonance imaging (MRI) was normal. Repeat screening for antineuronal antibodies showed negative results for anti-NMDA receptor antibodies but positive results for anti-GAD65 with a low positivity of anti-Ma2 antibodies. Although a transient improvement was noticed after immunomodulatory treatment, the patient developed severe intractable autonomic imbalance including dysrythmia, alternating bradycardia/tachycardia, hypotension/hypertension, hypothermia/hyperthermia and hyperhidrosis. She deceased six months after onset. Our report intends to raise awareness of autoimmune encephalitis with anti-GAD65 antibodies which may involve extralimbic brain regions and manifest with fatal dysautonomia. We highlight the need for prompt diagnosis and aggressive management for this underdiagnosed entity in children. •Anti-glutamic acid decarboxylase (anti-GAD65) antibodies are a rare cause of autoimmune encephalitis.•We report a rare case of anti-GAD65 encephalitis in a child.•Refractory epilepsy and severe dysautonomia were unresponsive to immunotherapy.•We highlight the need for prompt diagnosis and aggressive management for this underdiagnosed entity in children.