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Rehabilitation Practice and Science

Translated Title

以斜頸為初始症狀之透明中膈與視覺發育不全：病例報告

Abstract

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)

Language

Traditional Chinese

First Page

47

Last Page

52

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