Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

BMC Medical Genomics

Table 1 Clinical features of TWNK-Associated PRLTS

	Sex	PRLTS Symptom Onset	Ataxia	Axonal Polyneuropathy	Nystagmus	Reduced DTR	Romberg +	Pes Cavus	SNHL	Gonad Dysfunction	FSH	Pelvic Ultrasound
Our Patient	F	16 months	Yes	Yes	No	Yes	No	No	Yes	Yes	Elevated	Absence of ovarian structures
Gotta et al. 2020 [9]	F	5 YO	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	NR	Normal sized anteverted uterus and small ovaries
Kume at el. 2020 [10]	F	48 YO	Yes	Yes	Yes	Yes	Yes	NR	Yes	NR	NR	NR
Dominguez-Ruiz et al. 2019 [11]	F	5 YO	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	NR	NR
Dominguez-Ruiz et al. 2019 [11]	F	3 YO	Yes	Yes	NR	Yes	NR	Yes	Yes	Yes	NR	NR
Dominguez-Ruiz et al. 2019 [11]	M	4 YO	Yes	Yes	Yes	Yes	Yes	Yes	Yes	NR	NR	NR
Fekete et al. 2019 [12]	F	4 YO	Yes	Yes	Yes	No (increased)	NR	Yes	Yes	Yes	Elevated	Ovarium agenesis and uterus hypoplasia
Jamali et al. 2019 [13]	M	4 YO	Yes	Yes	Yes	NR	NR	NR	Yes	NR	NR	NR
Demain et al. 2017 [14]	F	< 3 YO	Yes	Yes	Yes	Yes	NR	NR	Yes	Yes	NR	Small uterus and ovaries
Oldak et al. 2017 [15]	F	3 YO	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Elevated	Hypergonadotropic hypogonadism, streak gonads, rudimentary uterus
Oldak et al. 2017 [15]	F	11 YO	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Elevated	Ovarian Dysgenesis
Lerat et al. 2016 [1]	F	< 3 YO	Yes	Yes	NR	NR	NR	NR	Yes	Yes	NR	NR
Lerat et al. 2016 [1]	F	< 3 YO	Yes	Yes	NR	NR	NR	NR	Yes	Yes	NR	NR
Lerat et al. 2016 [1]	M	< 3 YO	Yes	Yes	NR	NR	NR	NR	Yes	No	NR	NR
Morino et al. 2014 [16]	F	13 YO	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Elevated	NR
Morino et al. 2014 [16]	F	8 YO	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Elevated	NR
Morino et al. 2014 [16]	F	7 YO	Yes	Yes	Yes	Yes	Yes	NR	Yes	Yes	NR	Streak ovaries
Morino et al. 2014 [16]	F	7 YO	Yes	Yes	NR	Yes	Yes	NR	Yes	Yes	NR	Streak ovaries

YO Years Old, DTR Deep tendon reflexes, NR Not reported, PRLTS symptom onset is based upon age of ataxia or SNHL

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