Table 2.

Other manifestations of NBCCS.

Calcifications of the central nervous system and other lesions

Calcification of: – falx cerebri – tentorium cerebelli – sella turcica – petrosphenoidal ligament [2,4,5]

Cysts of the choroid plexus, third and lateral cerebral ventricles

Agenesis of corpus callosum

Meningioma

Medulloblastoma

Multiform glioblastoma

Astrocytoma

Foetal rhabdomyosarcoma

Grand mal

Congenital hydrocephalus

Mental retardation ~5% patients with NBCCS [10]

Ophtalmic and otologic anomalies

20% patients with GGS

Hypertelorism 70%

Microcysts on eyelids

Congenital cataract,

Strabismus,

Nystagmus,

Orbital cysts

Congenital blindness.

Otosclerosis,

Conductive hearing loss

Posteriorly angulated ears

Skeletal anomalies

Significant height – average for females is 174 cm and for males 183 cm [30]

Increased pneumatisation of the paranasal sinuses (in particular frontal sinuses)

Increased head circumference [30,34] 50%

Strongly marked superciliary arches

Retracted and a wide base of the nose typical for pseudohypertelorism (in 5–40% cases true hypertelorism were reported) [22,25,35]

Wide eyes 70%

Congenital skeletal anomalies: – bifid, fused, splayed or missing ribs 30-60% (27) – bifid wedges fused vertebra – scoliosis 40% – frontal, temporal, parietal bossing – polydactyly, sindactyly [36] – short fourth metacarpal – sprengel shoulder [elevation of the scapula characterised by medial rotation of the distal pole of the scapula ~10–40% patients with GGS]

Spina bifida occulta 40–60% [5,10]

Sternal protrusion or depression 30–40% of patients [5]

Cysts within the phalanxes, long bones, pelvis and even calvaria – the symptoms may create an impression that the bone is occupied by medulloblastoma cells [10]

Urogenital anomalies

25–50% of affected ♀ reveal ovarian cysts and fibromas: – bilateral in a 3/4 of cases [37,38] – do not impair women’s fertility – risk of ovarian torsion [17] In ♂: – hypogonadism – cryptorchidism – gynecomastia Urinary system [29,35,39]: – U- (horseshoe) and L-shaped kidneys – unilateral renal agenesis – double kidneys – double ureters

Gastro-enteric system

Limphomesenteric cysts Ø 2–14 cm, asymptomatic

Gastric polyps

Cardio-vascular system

Cardiac fibroma [22,36]: – 3–5% of patients with cardiac fibromas reveal GGS – Ø 3–4 cm – usually located in the anterior wall of the left atrium – if they involve also the ventricles, impair hemodynamics of the heart [22,36] Absent internal carotid artery