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. 2022 Nov;43(11):1660–1666. doi: 10.3174/ajnr.A7663

Table 2:

Neuroradiologic findings identified in a cohort of 7 unrelated individuals with ZTTK syndrome

Individuals
1 2 3 4 5 6 7
PVNH Sparse; bilateral; FH Sparse; bilateral; FH, midbody, peritrigonal Sparse; bilateral; FH, TH Sparse; bilateral; FH, midbody Sparse; bilateral; FH, TH, peritrigonal Single; unilateral; right FH Sparse; unilateral; left FH
Vermis height (centile)21 50–97 >97 >97 >97 >97 50 50
Vermis diameter (centile)21 >97 50–97 >97 >97 >97 >97 >97
Cerebellar tonsils Normal Normal Normal Herniated Normal Herniated Normal
Posterior fossa Abnormal shape Abnormal shape; cyst Normal Abnormal shape; cyst Abnormal shape Abnormal shape; cyst Normal
Corpus callosum diameter (centile)20 <3 50–97 <3 50–97 50–97 <3 50–97
Genu diameter (centile)20 3–50 <3 <3 <3 50–97 <3 <3
Pituitary gland Small Small Small Small Small Normal Normal
Pituitary stalk Normal Elongated Elongated Elongated Elongated Normal Elongated
Caudate nuclei Dysmorphic Dysmorphic Dysmorphic Dysmorphic Dysmorphic Normal Small
Caudate heads Malrotated Malrotated Malrotated Malrotated Malrotated Large Normal
Hippocampi Small and malrotated Small and malrotated Small and malrotated Small and malrotated Normal sized; LIA Normal sized; LIA Small; LIA
Lentiform nucleus Normal-sized Small globus pallidus Normal-sized Small globus pallidus Small Small globus pallidus Normal-sized
Lateral ventricles Dysmorphic; large FH; small OH Dysmorphic; large FH and OH Dysmorphic; large FH Dysmorphic; large FH Dysmorphic; large FH Dysmorphic; large OH Large FH
Third ventricle Small Dilated Small Dilated Small Normal Small
Fourth ventricle Small Small Small Small Small Small Small
Cortex malformations Abnormal temporal lobe sulcation Bilateral PS-PMG; thick PS cortex Bilateral PS-dysgyria; thick PS cortex Bilateral PS-PMG Bilateral PS-PMG Bilateral PS-dysgyria; thick PS cortex Thick PS cortex
 WM volume Normal Decreased Decreased Decreased Normal Normal Decreased
 Myelination Normal Normal Delayed Normal Delayed Normal Delayed

Note:—FH indicates frontal horns; TH, temporal horns; OH, occipital horns; PS, perisylvian; PMG, polymicrogyria; LIA, lack of internal architecture.