耳石経路を伴う核前神経障害を伴う先天性第三頭蓋神経麻痺。先天性第三頭蓋神経麻痺の根底には、新しい先天性頭蓋神経障害が存在する

Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder.

• Pramod K Pandey
• Divya Kishore
• Annu Joon
• Priya Saraf

抄録

片側性クリプトルキディズムと腎形成不全を呈した10歳の男児が、外向性障害を伴う片側性先天性第三頭蓋神経麻痺の特徴を示した。先天性第三核・神経節低形成と二次性神経障害は、先天性頭蓋神経障害障害（CCDD）と分類されている。核前構造、耳石経路、Cajal間質核（INC）、前置核低位核、第三・第六神経核の間の誤配線が原因であると考えられている。もしクリプトルキディズムと腎無形成が認められれば、Duan-radial ray syndromeやacro-renal-ocular/IVIC syndromesと重複する表現型を示唆しているかもしれません。

A 10-year-old boy with unilateral cryptorchidism and renal aplasia displayed features of unilateral congenital pupil sparing third cranial nerve palsy with exotropia manifesting novel dysinnervation encompassing synergistic divergence with upshoot, convergence on attempted upgaze, gaze-evoked phasic conjugate torsion, and gaze-evoked nystagmus. Congenital third nucleus/nerve hypoplasia with secondary dysinnervation is classfied as congenital cranial dysinnervation disorder (CCDD). It is speculated that miswiring between prenuclear structures, otolithic pathways, interstitial nucleus of Cajal (INC), nucleus prepositus hypoglossi, and third and sixth nerve nuclei likely resulted in this novel dysinnervation. Cryptorchidism and renal aplasia if seen may point towards an overlapping phenotype with Duane-radial ray syndrome and acro-renal-ocular/IVIC syndromes.