Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature

Table 1 Comparative clinical manifestations of Twin A and Twin B

Neonatal features	Twin A	Twin B
Anthropometric measures (percentile)	BW 1900 g (19th), L 43 cm (17th), CC 29 cm (3rd)	BW 1780 g (12th), L 41 cm (4th), CC 31 cm (29th)
Facies	Prominent forehead, sparse eyebrows, hypertelorism with divergent strabismus, depressed nasal root	Prominent forehead, sparse eyebrows, hypertelorism with divergent strabismus, depressed nasal root
Limbs	Bilateral post-axial polydactyly type B, IV-V finger syndactyly of the right hand, left clubfoot	Right hand post-axial polydactyly type B
Heart	Two left ventricular false tendons	Left ventricular false tendon
Genito-urinary system	CAKUT with chronic renal failure, 2nd grade bilateral VUR; micropenis	Transient bilateral calico-pyelic dilatation and of the proximal ureter
GI tract	Anal atresia	Anal atresia
ENT	Omega-shaped epiglottis, mild laryngomalacia	Normal
Endocrinological findings	GHD	Subclinical hypothyroidism (with normal thyroid gland US), GHD
Seizures	No	No
EEG	Normal	Anomalies in the temporal region (with asymmetry, left>right): slow waves both isolated and in sequences, sometimes in the form of sharp waves.
Ophthalmological assessment	Normal	Normal
Audiological screening	Normal	Normal
CUS	Fig 1A	Fig 1B
Spinal US	Cyst of the filum terminale	Normal
MRI	Fig 2	Fig 3A/B

Abbreviations: BW Birthweight, L Length, CC Cranial circumference, CAKUT Congenital anomalies of the kidney and urinary tract, VUR Vesicoureteral reflux, GI Gastro-intestinal, ENT Ear-nose-throat, GHD Growth hormone deficiency, US Ultrasound, CUS Cranial ultrasound, MRI Magnetic resonance imaging, EEG Electoencephalography

ISSN: 1471-2377