A 7 month old boy with Glutaric Aciduria and flexor spells

Slides:

Advertisements

Similar presentations

A 15 YEAR OLD BOY WITH AN ASCENDING SPASTIC PARALYSIS Teaching Video NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

Advertisements

63 year-old woman with subacute parkinsonism Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology.

Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology Neonatal Parechovirus Encephalitis: Typical MRI findings.

A 41 year old African patient with „multifocal neurology“ Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

A 52-year old man with recently diagnosed HIV infection with irregular shaking of his hand Teaching NeuroImages Neurology Resident and Fellow Section ©

A 62-year-old man with progressive action tremor and a 74-year-old man with progressive ataxia Teaching NeuroImages Neurology Resident and Fellow Section.

A 68 year old woman with a troublesome chin tremor Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

A patient with red dot on the forehead A 32-year old woman presented with red dot on her forehead and eyelid ecchymosis Teaching NeuroImages Neurology.

Teaching NeuroImages An 83-year-old woman with phonatory breaks and left hand rest tremor Neurology Resident and Fellow Section © 2013 American Academy.

A 30 year old man with sub-acute ataxia Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology.

Neurology Resident and Fellow Section 40 year old woman with left arm pain, numbness, and weakness Teaching NeuroImages © 2013 American Academy of Neurology.

A 43-year-old man with decreased consciousness Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology.

A 50 year old man with progressive tetraparesis and blindness Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

A 38-year-old patient with partial seizures Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology.

47-year-old with progressive upper limb weakness Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology.

Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology An unusual cause of conus medullaris syndrome.

A 30-year male with cognitive decline and unsteady gait Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

A 39-year old man with facial diplegia Teaching NeuroImages Neurology Resident and Fellow Section Campbell J, et al © 2013 American Academy of Neurology.

Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology A 23 month old full term male with seizures.

68 year old man with aphasia and facial droop © 2014 American Academy of Neurology Teaching NeuroImages Neurology Resident and Fellow Section.

A 22 years old man with slow movements and mounding phenomenon © 2013 American Academy of Neurology Teaching NeuroImages Neurology Resident and Fellow.

Progressive fetal intracranial lesion Teaching NeuroImages Neurology Resident and Fellow Section © 2015 American Academy of Neurology.

A 26 year old woman with headache, diplopia, and pulsatile tinnitus Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy.

A 45 year old man with painful right eye blindness Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology.

A 4 Year Old Boy With Proptosis of Left Eye Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology.

2 year old girl with mild ataxia and truncal dystonia Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology.

57 year-old man with confusion Teaching NeuroImages Neurology Resident and Fellow Section © 2015 American Academy of Neurology.

A 58 year old woman with acute-onset paresthesias

Patient with painful ophthalmoplegia after traffic accidents

71-year-old Man with Nystagmus and Oscillpsia

Neurology Resident and Fellow Section

Neurology Resident and Fellow Section

A 15 YEAR OLD BOY WITH AN ASCENDING SPASTIC PARALYSIS

55 year-old man with acute headache and dizziness Teaching NeuroImages Neurology Resident and Fellow Section David Yen-Ting Chen, MD Ying-Chi Tseng, MD.

Teaching NeuroImages Neurology Resident and Fellow Section

Teaching Video NeuroImages Neurology Resident and Fellow Section

A 22-year-old woman with progressive ataxia and feet dystonia

A newborn with liver failure and coma

Neurology Resident and Fellow Section

A 57-year-old woman with seizures and coma

Neurology Resident and Fellow Section

A 41-year-old man with progressive quadriparesis

Neuroimaging findings in patients with cerebral organic acid disorders

Neuroimaging findings in patients with cerebral organic acid disorders

20-year-old male with progressive status epilepticus

A 10 month old infant with status epilepticus

A 54-year old woman with subacute encephalopathy

Neurology Resident and Fellow Section

A 10 month old boy with macrocephaly

Acquired hepatocerebral degeneration

Resident and Fellow Section

A 60 year-old male with vertigo, dysarthria and weakness

Abnormal movements in an unconscious adult Teaching NeuroImages Neurology Resident and Fellow Section © 2018 American Academy of Neurology.

Neurology Resident and Fellow Section

with headache and seizures

68-year-old patient with memory impairment

A 21 year old woman with frequent vomiting

A 50-year-old man with progressive dysautonomia and leg stiffness

A 74-year old woman with progressive amnesia

Figure 1 MRI head in faciobrachial dystonic seizures (A) Axial fluid-attenuated inversion recovery image from patient 3 in table 2 shows T2-weighted hyperintensity.

Figure 1. Prebiopsy and postbiopsy MRI

Figure 1 Cerebral MRI during the disease course Cerebral MRI with multiple cerebral supratentorial lesions during the disease course: periventricular lesions.

A 45 YEAR OLD WOMAN WITH PROGRESSIVE WEAKNESS

Figure 2 Cerebral and spinal MRI (A) Restricted diffusion of both optic nerves (arrows) on diffusion-weighted and apparent diffusion coefficient imaging.

Figure Spinal cord imaging (A, B) Sagittal and axial T2-weighted cervical spine MRI demonstrating hyperintensities in the central gray matter of patient.

A 2 year old girl with progressive neurological deficits

A 11-month-old girl with acute irritability and hypotonia

Huma Samar et al. JACEP 2017;j.jacep

Teaching NeuroImages Neurology Resident and Fellow Section

A treatable case of subacute encephalopathy

Presentation transcript:

A 7 month old boy with Glutaric Aciduria and flexor spells Teaching NeuroImages Neurology Resident and Fellow Section © 2013 American Academy of Neurology

Vignette A 7-month old boy with known glutaric aciduria type 1 (GA1) presented with one-week history of clustered flexor spasms. Examination revealed mild axial hypotonia without encephalopathy. Young-Lin et al.

Video EEG Young-Lin et al. Figure 1. Video EEG at presentation showed infantile spasms and hypsarrhythmia: high voltages, disorganization, and frequent multifocal and generalized spikes. Young-Lin et al.

MRI Brain Young-Lin et al. Figure 2. MRI showed acute basal ganglia injury. T2 weighted image demonstrates widened opercula and increased T2 signal in globi pallidi and dorsal putamina. Apparent diffusion coefficient image shows subtle reduced diffusion in the globus pallidi (red arrow). Young-Lin et al.

Infantile Spasms in Glutaric Aciduria GA1 is an autosomal recessive condition due to deficiency of the enzyme necessary for degradation of lysine, tryptophan and hydroxylysine. Infantile spasms have only been reported once before in GA11 (1). New onset spasms may be associated with sub-optimal metabolic control, even in the absence of encephalopathy. Patient Follow Up: Patient was treated with several weeks of prednisolone 5-month follow-up showed continued resolution of hypsarrhythmia and spasms 1. Singh P, Goraya JS, Ahluwalia A, Saggar K. Teaching NeuroImages: Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency). Neurology 2011;77:e6. 2. Kolker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis 2011;34:677-694 Young-Lin et al.