症例280Trichopoliodystrophy

Case 280: Trichopoliodystrophy.

• Kin Fen Kevin Fung
• Yin Yee Kwong
• Wing Sze Mak
• Yee Ling Elaine Kan

抄録

病歴それまで健康であった生後8ヵ月の男児が、進行性の矮小化と発達遅滞を理由に母子保健センターから当院に紹介された。この乳児は、周産期合併症を伴わない妊娠の後に生まれた。自然経膣分娩で全期分娩された。2人の年上の男性兄弟は肺炎により2～3歳頃に死亡しています。両親によると、これらの兄弟はまた、筋緊張の低下を示し、それらのうちの1つは、再発性発作を開発した。身体検査では、頭部の遅れが顕著で、物に手を伸ばさない。身体検査では著しい頭の遅れが見られ、物に手を伸ばすことはなかった。髪の毛はまばらで粗かった。軽度の発掘孔奇形を呈していた。頭蓋骨と胸部のX線写真が得られ（図1，2），脳のMRIが施行された（図3）．

HistoryAn 8-month-old previously healthy boy was referred to our institution by the maternal child health center for progressive truncal hypotonia and developmental delay. This infant was born after an uncomplicated pregnancy with no perinatal complications. He was delivered at full term via spontaneous vaginal delivery. Two of his older male siblings died around 2-3 years of age due to pneumonia. According to the parents, these siblings also displayed reduced muscle tone, and one of them developed recurrent seizure.On physical examination, the child showed marked head lag and did not reach out to objects. Visual and auditory development were normal. His head circumference was below the third percentile, and his body weight was at the 10th percentile. His hair was sparse and coarse. A mild pectus excavatum deformity was present. Skull and chest radiographs were obtained (Figs 1, 2), and the patient underwent MRI of the brain (Fig 3).