Menkes kinky hair diseaseの2例

MENKES KINKY HAIR DISEASE:TWO CASES REPORT

I．はじめに

　1962年，Menkesら^1）は精神運動発達遅滞，特徴のある毛髪および痙攣を主症状とし，伴性遺伝形式をとる1家系5例を新しい疾患単位として報告した。その後，Bray^2），Aguilarら^3），およびO'Brienら^4）の症例報告や研究成績が発表され，"kinky hair disease"と呼ぶことが提唱された。さらに，Aguilarら^3）は本症に脳血管異常を認め，またWesenbergら^5）は長管骨骨端部のspurringなどの骨変化を記載した。

　1972年，Danksら^6）は，本症の血清銅および血清セルロプラスミン低値を見山し，腸管からの銅吸収障害を指摘した。

In 1962, Menkes and associated described a pro-gressive neurodegenerative disease characterised byseizure, failure to thrive, developmental regessionand peculiar hair with death before 3 years. Inthe intervening year, about 40 further cases inwhich only boys were affected have been reportedfrom the world. In Japan, only a few cases ofthis disease were reported since 1975.

We had the opportunity to study two cases ofkinky hair disease. Manifestations of our twocases included seizure, unusal hair, psychomotorretardation and progressive neurological degener-ation. In addition to various electroencephalographicabnormalities, characteristic roentogenographic bonymetaphyseal spurring and widespread cerebral ar-terial tortuosity previously reported in the litera-ture, these our patients also had very low copperlevels in the blood and urine. Very low level ofceruloplasmin in serum were found in two patients.Perioral copper loading tests (90μg/kg/day) showedthe defect of intestinal absorption.

Case 1 : T. W., male, was delivered uneventfullyat term. He weighed 2.75 kg, and was stated tohave progressed satisfactorily untile he presentedat the age of 3 months with convulsions. Theconvulsions were difficult to be controlled, but heremained lethargic and floppy in hospital. Theinfant's weight on admission was 6. 8 kg He wasnoticeably pale and his hair was whitish-blonde,sparse, coarse and stiff. The motor examinationrevealed a hypoactive infant. The traction responsewas absent, with marked head lag. Roentgenograp-hically, rib flaring was noted. Chest film and me-taphyseal spurring was seen. Electroencephalogr-aphy at 4 months revealed excessive slowing andanterior focal single spike activity. Serum copperwas 18μg/dl and serum ceruloplasmin evels was4.2mg/dl.

Case 2: A boy was born at term with birthweight of 2.6kg. The pregnancy was normal.His development and general health before theonset of seizure and pneumonia appeared normal.He smiled at 8 weeks and he had a vocal-socialresponse. On admission to the hospital at 4 monthsof age, he had myoclonic seizures and broncho-pneumonia. He had funny hair. Neurological exa-mination revealed a very inattentive baby whowould not reach for objects. He had a poor headcontrol and no traction response. Response to pi-nprick was present. Chest x-ray films showed an-terior flaring of the ribs. Roentograms of the ex-trimities showed cupping of the distal end. Cere-bral angiography revealed incresed tortuosity ofthe intracranial vessels. Several electroencephalog-rams were obtained and these showed multifocaldischarges initially. EEG at age 8 months revealeda typical hypsarrythmic pattern. Serum copper was10 fig/dl and ceruloplasmin was 3.4mg/dl.