Thiamine transporter-2 deficiency: outcome and treatment monitoring

Table 2 The clinical and radiological features of patients with thiamine transporter-2 deficiency reported in the literature

	Number of patients		Number of patients
Patients	69	Dead patients	23
Age (years ± SD)	3.5 ± 4.3	Symptoms at follow up
Male/Female	36/33	Tetraparesia/Dystonia	32
Trigger events	40	Cognitive impairment	23
Symptoms at onset		Dysphagia	13
Encephalopathy/Lethargy	57	Epilepsy	11
Seizure	47	Dysarthria	10
Generalized and focal dystonia	38	Respiratory support	4
Dysarthria/Anarthria	28	Ataxia	3
Ataxia	25
Dysphagia	21	MRI
Pyramidal signs	19	Caudate	55
Abnormal ocular movement	17	Putamen	55
Developmental delay	12	Thalami	31
Opisthotonus	11	Cerebellum	22
Rigidity/Rigid akinetic syndrome	11	Brainstem	19
Tremor	4	Subcortical WM	16
Chorea	2	Cerebral cortex	13
Jitteriness	2	Globus pallidus	8
Dystonic status	2	Medulla	3
Dysautonomia	2	Lactate on spectroscopy	6
Ptosis	2

The table shows a list of signs and symptoms at onset and at follow-up, as well as MRI abnormalities. Seizures include myoclonic jerks, epileptic spams, focal and generalized seizure, epilesia partialis continua and status epilepticus. Abnormal ocular movements include nystagmus, oculogyric crisis, oculomotor nerve palsy, ophtalmoplegia and sunset phenomenon. Symptoms reported only once: rhabdomyolisis, facial dyskinesia. SD: Standard Deviation.

ISSN: 1750-1172