A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations

BMC Medical Genetics

Table 1 Clinical and brain MRI findings of the present patients, BBGD and Wernicke's-like encephalopathy caused by SLC19A3 mutations

Patients		V-2	V-3	V-4	V-6	BBGD	Wernicke's-like
Present age		18Y	12Y(dead)	9Y(dead)	6Y	9-33Y	ND
Sex		male	male	male	male	male, female	male
Consanguinity		+	+	+	+	+/-	-
Neurological findings
	bad temper	1M	2M	2M	2M	ND	ND
	head control	-	-	-	-	+	+
	opisthotonic posture	1M	-	2M	11M	++	-
	mental retardation	++	++	++	++	++ (without treatment)	-
	dysphagia	++	++	++	+	+	-
	pyramidal signs	++	++	++	++	++	-
	quadriplegia	++	++	++	++	++	-
	dystonia	-	-	-	-	++	-
	cogwheel rigidity	-	-	-	-	++	-
	ophthalmoplegia	-	-	-	-	+	++
	nystagmus	-	-	-	-	-	++
	ataxia	-	-	-	-	-	++
Seizure
	onset	2M	3M	2M	11M	childhood	second decade
	type	ES→SGE	ES→SGE	ES→SGE	ES→PE	PE, SGE	PE
Gastrostomy		12Y	7Y	6Y	-	-	-
Tracheotomy		-	4Y	4Y	-	-	-
Pathologic brain MRI findings		11M	7Y	6Y	14M	3-33Y	36Y
	cerebral atrophy	++	++	++	++	-	-
	cerebellar atrophy	++	+	++	+	-	-
	brain stem atrophy	+	-	-	-	-	-
Abnormal signals in
	thalamus	+	+	+	+	-	+
	caudate nuclei	+	+	+	+	+	-
	putamen	+	+	+	+	+	-
	cortical & subcortical region	-	-	-	-	+	-
	periaqueductal region	-	-	-	-	-	+
Treatment		NP	NP	NP	biotin: ineffective	biotin (and thiamin): effective	thiamin: effective

Y = year(s); M = month(s); ES = epileptic spasm; SGE = symptomatic generalized epilepsy; PE = partial epilepsy; (+) = presence of clinical signs, + to ++ increasing severity; (-) = minus sign; ND = not described; NP = not performed. Typical clinical and brain MRI findings of BBGD [10, 16] and Wernicke's-like encephalopathy [12] are summarized.

ISSN: 1471-2350