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Table 1 Clinical characteristics of five Thai patients with infantile SD

From: Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

Patient/Sex Onset age Dx age GA/BW Seizures and onset Macular cherry red spot Enlarged liver and spleen Macrocephaly/ Other findings Brain imaging Age at death
1/Ma 6 mo 17 mo term/NA GTC, MCS aggravated by loud noise at 15 mo yes no no/ MVP spasticity, hyperreflexia Cranial ultrasound: normal at 10 mo 2 yo
2/Mb 8 mo 25 mo NA/NA MCS aggravated by loud noise at 8 mo yes no no/ spasticity, hyperreflexia MRI: hypomyelination, hyperintensity of bilateral thalamus 4 yo
3/F 5 mo 16 mo 36 wk./ 2360 g GTC at 12 mo yes mild hepato megaly yes/ NA MRI: symmetrical homogeneous increased density of bilateral thalamus with subcortical white matter change of bilateral frontal and temporal lobes, mild brain atrophy 2 yo
4/M 6 mo 16 mo 36 wk./ 2560 g not yet developed at 16 mo yes no no/ axial hypotonia, hyperreflexia MRI: diffuse hyper T2 signals at bilateral cerebral white matter, and hypo signal intensity of bilateral thalami; thinning of corpus callosum and cerebellar peduncles 6 yo
5/F 8 mo 34 mo Term/ 3400 g MCS at 10 mo yes no yes/ axial hypotonia, hyperreflexia MRI: mild atrophic change of bilateral temporal lobes, mild prominent third ventricle and bilateral lateral ventricles 4 yo
  1. BW birth weight, Dx diagnosis, g grams, GA gestational age, GTC generalized tonic clonic seizures, MCS myoclonic seizures, mo months, MVP mitral valve prolapse and regurgitation, NA not available, wk. weeks, yo years
  2. a Sakpichaisakul K. et al. J Med Assoc Thai. 2010;93:1088–1092; b grandparents are full siblings