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

BMC Pediatrics

Table 1 Clinical characteristics of five Thai patients with infantile SD

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/M^a	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/M^b	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

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
^a Sakpichaisakul K. et al. J Med Assoc Thai. 2010;93:1088–1092; ^b grandparents are full siblings

ISSN: 1471-2431