以斜頸為初始症狀之透明中膈與視覺發育不全：病例報告

斜頸症係指頭部轉向一側，而下巴傾斜至另一側之症狀。先天性肌肉斜頸為嬰幼兒斜頸最常見的原因，但許多其他疾病亦會產生此一症狀，其中包括中樞神經病變。因此正確的鑑別診斷很重要。本病例為一名八個月大之女嬰，自三個月起開始有斜頸現象，故來到本院復健科門診接受診療。出生時的身高、體重與外表均為正常。理學檢查時發現往右看時會出現眼球水平震顫，以及頭傾向左側、下巴朝向右側的斜頸姿勢。除此之外臉部外表、頸部關節活動度與胸鎖乳突肌並無異常。經腦部超音波與腦部核磁共振檢查證實有透明中膈發育不全，同時也有視神經交叉與腦下垂體莖部細小的現象。視覺誘發電位檢查則顯示有左側視神經病變。血液檢查則發現第一型類胰島素成長因子較低下，但鈉鉀離子、葡萄糖、甲狀腺素、甲狀腺刺激素等數值均正常。透明中膈與視覺發育不全（septo-optic dysplasia）的診斷因而確定。患者之後在本院小兒科與復健科門診持續追蹤治療已滿一年，斜頸仍持續存在，但目前並無發育遲緩現象。動作、語言與認知功能亦大致正常。透明中膈與視覺發育不全是一種罕見之先天性疾病，臨床特徵包括視神經發育不良、腦部中線結構異常與腦下垂體發育不全。診斷仰賴上述症狀中出現任二者來確立。此病可能合併有發育遲緩與腦垂體荷爾蒙分泌功能低下的問題，因此早期診斷與治療就很重要。由於斜頸並非是此疾病常見之初始症狀，我們希望藉由此一病例報告來提醒臨床醫師此種可能，以供診療參考。（台灣復健醫誌2012；40（1）：47- 52）

關鍵字

透明中膈與視覺發育不全；斜頸；眼球震顫

並列摘要

Torticollis is characterized by a lateral head tilt with chin rotation toward the opposite side. Congenital muscular torticollis remains the most common etiology in infancy. However, many different conditions, including anomaly of central nervous system, can cause the condition. The differential diagnosis is therefore important.An 8-month-old baby girl presented to our rehabilitation clinic with torticollis since 3 months of age. Her body weight, height and general appearance were normal at birth. At examination, horizontal nystagmus was noted while she gazed toward the right side, as well as head tilting to the left and chin pointing at the opposite side. There were no asymmetrical facial features, limitation of neck movement, or palpable mass in the sternocleidomastoid muscle. The brain ultrasonography revealed dysplasia of cavum septum pellucidum. Subsequent brain magnetic resonance imaging confirmed the absence of cavum septum pellucidum, along with thin optic chiasms and pituitary stalk, and the visual evoked potential suggested left optic neuropathy. The blood test showed a relatively lower insulin-like growth factor-1 level, but normal serum sodium, potassium, glucose, thyroxin, and thyroid-stimulating hormone. The diagnosis of congenital septo-optic dysplasia (SOD) was made. She has been regularly followed up at our pediatrics and rehabilitation outpatient clinic for one year now. Torticollis was still noted, but there was no developmental delay. The motor skills as well as speech and cognitive function were grossly normal during the follow-up.SOD is a rare congenital condition featuring optic nerve hypoplasia, midline brain abnormalities and pituitary hypoplasia. The diagnosis is usually based on any combination of these symptoms. SOD may be associated with developmental delay and hormonal deficiency, so early recognition and intervention are crucial. Since torticollis is rarely an initial symptom of SOD, we hope to remind the clinician of it by presenting this case. (Tw J Phys Med Rehabil 2012; 40(1): 47 - 52)

並列關鍵字

septo-optic dysplasia ； torticollis ； nystagmus

國際替代計量

以斜頸為初始症狀之透明中膈與視覺發育不全：病例報告

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