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. 2020 Jul 27;24:100627. doi: 10.1016/j.ymgmr.2020.100627

Table 1.

Summary of clinical features and investigation results of the three siblings.

Sibling 1 (III-2) Sibling 2 (III-3) Sibling 3 (III-6)
Age at presentation 11 years old 4½ years old 2½ years old
Prodrome 3 days of fever, nausea & vomiting 4 days of chesty cough, fever & rigor 5 days of fever & anorexia; 1 day of diarrhoea
Acute encephalopathy
Presenting symptoms Blurring of vision, confusion Impaired conscious level Several short episodes of upward gaze
Physical signs Hypertonia, hyper-reflexia and extensor Babinski response Shock and acute kidney injury Loss of vision
Impaired vision & color vision Right hemiparesis
Right homonymous hemianopia Impaired swallow
Infective screening Normal + Parainfluenza I (nasopharyngeal aspirate) + Mycoplasma Pneumoniae titre 1:80 (blood)
No cerebral spinal fluid (CSF) analysis CSF – normal + Parainfluenza I (nasopharyngeal aspirate)
CSF – normal
MRI brain Bilateral symmetrical abnormal signal intensities in the lateral geniculate nuclei of the thalami, temporal lobes, midbrain and left side of the pons Symmetrical diffuse involvement of thalami, midbrain (sparing medulla) and temporal lobes with hemorrhagic components Diffuse hyperintensity in both temporal lobes, insula cortices, limbic systems (hippocampus and amygdala), pons, midbrain, thalami and external capsule with hemorrhagic components
Sequelae onfollow up 2½ years follow-up: Mild learning disability (LD), right homonymous hemianopia 7 years follow-up: Mild LD, clumsy, right sided hyper-reflexia but normal power 3½ years follow-up: Normal development and neurology