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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