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PET-positive extralimbic presentation of anti-glutamic acid decarboxylase antibody-associated encephalitis

G. Kojima, et al.

Volume 16, Number 3, September 2014

Keywords : Encephalitis, clonic (non epileptic), dyskinesias (non epileptic), Face, Multifocal, Focal non-idiopathic (localization not specified)

extralimbic involvement are reported with limited investigation. Here, we report an extensive investigation with MRI, PET, and pathological examination. A 66-year-old Japanese female with a history of hypothyroidism, colon cancer, pheochromocytoma, and thymoma-associated myasthenia gravis presented with generalised tonic-clonic seizures. MRI showed multiple hyperintense lesions and PET showed hypermetabolic lesions in the brain. Biopsy showed non-specific gliosis, microglial proliferation, and perivascular lymphohistiocytic infiltrates. Various neuronal antibodies were negative, except for anti-GAD antibody. Anti-GAD antibody-associated encephalitis is an increasingly recognised CNS disease. Pathophysiology of this encephalitis is unclear. While PET showed hypermetabolic lesions, the biopsy showed non-specific changes. The treatments may include immunosuppressants, IVIg, and plasma exchange. One should consider to measure this antibody, in addition to others, when autoimmune encephalitis is suspected [ Published with video sequences] .

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PET-positive extralimbic presentation of anti-glutamic acid decarboxylase antibody-associated encephalitis

G. Kojima, et al.

Volume 16, Number 3, September 2014

Keywords : Encephalitis, clonic (non epileptic), dyskinesias (non epileptic), Face, Multifocal, Focal non-idiopathic (localization not specified)

extralimbic involvement are reported with limited investigation. Here, we report an extensive investigation with MRI, PET, and pathological examination. A 66-year-old Japanese female with a history of hypothyroidism, colon cancer, pheochromocytoma, and thymoma-associated myasthenia gravis presented with generalised tonic-clonic seizures. MRI showed multiple hyperintense lesions and PET showed hypermetabolic lesions in the brain. Biopsy showed non-specific gliosis, microglial proliferation, and perivascular lymphohistiocytic infiltrates. Various neuronal antibodies were negative, except for anti-GAD antibody. Anti-GAD antibody-associated encephalitis is an increasingly recognised CNS disease. Pathophysiology of this encephalitis is unclear. While PET showed hypermetabolic lesions, the biopsy showed non-specific changes. The treatments may include immunosuppressants, IVIg, and plasma exchange. One should consider to measure this antibody, in addition to others, when autoimmune encephalitis is suspected [ Published with video sequences] .

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Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

F. Hmami, et al.

Volume 16, Number 3, September 2014

Keywords : Hyperekplexia, Shuddering, Startle response, Tonic posture, Not applicable, Non epileptic paroxysmal disorder

video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1-mediated hyperekplexia. [ Published with video sequences]

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Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

F. Hmami, et al.

Volume 16, Number 3, September 2014

Keywords : Hyperekplexia, Shuddering, Startle response, Tonic posture, Not applicable, Non epileptic paroxysmal disorder

video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1-mediated hyperekplexia. [ Published with video sequences]

Read full article

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

F. Hmami, et al.

Volume 16, Number 3, September 2014

Keywords : Hyperekplexia, Shuddering, Startle response, Tonic posture, Not applicable, Non epileptic paroxysmal disorder

video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1-mediated hyperekplexia. [ Published with video sequences]

Read full article

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

F. Hmami, et al.

Volume 16, Number 3, September 2014

Keywords : Hyperekplexia, Shuddering, Startle response, Tonic posture, Not applicable, Non epileptic paroxysmal disorder

video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1-mediated hyperekplexia. [ Published with video sequences]

Read full article

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1

F. Hmami, et al.

Volume 16, Number 3, September 2014

Keywords : Hyperekplexia, Startle response, Shuddering, Tonic posture, Not applicable, Non epileptic paroxysmal disorder

video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1-mediated hyperekplexia. [ Published with video sequences]

Read full article

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