ANOMALIES
Cockayne Syndrome: Clinical Study of Two Patients and Neuropathologic Findings in One Gerald I.
Sugarman, M.D.,* Benjamin H. Landing, M.D.,† William
IN
1936, COCKAYNE DESCRIBED two English siblings with dwarhsm, retinal atrophy, and deafness.’ Ten years later he published a2 review of their progressive degeneration.2 In 1950, Neill and Dingwall reported two brothers with the same disorder. To date, over 30 such patients have been described- mostly of British origin .3-1 ’ The major and minor findings in this syndrome are summarized in Table 1. The syndrome has been described six times in siblings and perhaps once in a pair of twins. 12 Parental consanguinity was noted in the family described by Paddison and Moossy13 and in three Japanese families described by (Jhno and Ht>rooka.l‘~’The disorder thus shows the features of autosomal recessive inheritance. We here describe the clinical and laboratory data on a brother and sister with Cockayne syndrome. Pathologic studies on one showed lesions in the pancreas, adrenals, This investigation was supported in part by Grant No. RR00096 from the National Institute of Health through the Children’s Hospital of Los Angeles, Clinical Research Center. * Department of Pediatrics, Division of Neurology, Children’s Hospital of Los Angeles, and University of Southern California School of Medicine. &dag er; Departments of Pathology and Pediatrics, Children’s Hospital of Los Angeles and University of Southern California School of Medicine. &Dag er; Department of Dermatology, University of California School of Medicine, Irvine (deceased 1976).
TABLE l.
B. Reed, M.D.‡
CwA~W.~’n~’MKf 48.0 cm. In both, blood pressure and other vital signs were normal. Their faces were characteristic of Cockayne syndrome, with thin skin, beaked nose, large ear pinnae with telangiectasia, slight frontal prominence, alopecia of the scalp, and small teeth with maln~clusion and caries (Figs. I and 2). Both children had photophobia, but neither had a malar photodermatitis or evident photosensitivity of the skin. The girl had an epidermal cyst of the left upper eyelid, and the boy had bilateral esotropia and hyperopic astigmatism. Both children had grade I &dquo;salt and pepper&dquo; retinal ’
‘
FIG. 3. The fundus of the eye reveals retinal
tion, Grade I;
narrow
retinal arteries and
(Male patient).
226
Downloaded from cpj.sagepub.com at Bobst Library, New York University on May 31, 2015
pigmentaoptic atrophy
and sensation were normal. However, past-pointing, adiadochokinesis, tremor of the hands and feet. nystagmus, dysmetria and truncal ataxia were
present.
~a~’~~f ~~M~!~. The bov’s bone age was 3 ?j years at 7 years ofage. He had sc!erotic bones ofthe base of the skull, and calcification oF the falx cerebri (Fig. 4), a previously titireported lesion. He had increased density and anterior protrusion of vertebral bodies, with persistent midvertebrat vascular grooves in the thoracic spine, and mild hindfoot valgtis, The pneumoencephaiogram was normaL The girt’s bone age was 6 years at 8 years oF age. She had a dense vertebral column first degree sporidylolisthesis.
Her
pelvis
was
sclerotic,
with decreased distance between the iliac bones. She had a cone-shaped terminal right third
phalanx. E~ro~~~g’
Cockayne Syndrome: Clinical Study of Two Patients and Neuropathologic Findings in One Gerald I.
Sugarman, M.D.,* Benjamin H. Landing, M.D.,† William
IN
1936, COCKAYNE DESCRIBED two English siblings with dwarhsm, retinal atrophy, and deafness.’ Ten years later he published a2 review of their progressive degeneration.2 In 1950, Neill and Dingwall reported two brothers with the same disorder. To date, over 30 such patients have been described- mostly of British origin .3-1 ’ The major and minor findings in this syndrome are summarized in Table 1. The syndrome has been described six times in siblings and perhaps once in a pair of twins. 12 Parental consanguinity was noted in the family described by Paddison and Moossy13 and in three Japanese families described by (Jhno and Ht>rooka.l‘~’The disorder thus shows the features of autosomal recessive inheritance. We here describe the clinical and laboratory data on a brother and sister with Cockayne syndrome. Pathologic studies on one showed lesions in the pancreas, adrenals, This investigation was supported in part by Grant No. RR00096 from the National Institute of Health through the Children’s Hospital of Los Angeles, Clinical Research Center. * Department of Pediatrics, Division of Neurology, Children’s Hospital of Los Angeles, and University of Southern California School of Medicine. &dag er; Departments of Pathology and Pediatrics, Children’s Hospital of Los Angeles and University of Southern California School of Medicine. &Dag er; Department of Dermatology, University of California School of Medicine, Irvine (deceased 1976).
TABLE l.
B. Reed, M.D.‡
CwA~W.~’n~’MKf 48.0 cm. In both, blood pressure and other vital signs were normal. Their faces were characteristic of Cockayne syndrome, with thin skin, beaked nose, large ear pinnae with telangiectasia, slight frontal prominence, alopecia of the scalp, and small teeth with maln~clusion and caries (Figs. I and 2). Both children had photophobia, but neither had a malar photodermatitis or evident photosensitivity of the skin. The girl had an epidermal cyst of the left upper eyelid, and the boy had bilateral esotropia and hyperopic astigmatism. Both children had grade I &dquo;salt and pepper&dquo; retinal ’
‘
FIG. 3. The fundus of the eye reveals retinal
tion, Grade I;
narrow
retinal arteries and
(Male patient).
226
Downloaded from cpj.sagepub.com at Bobst Library, New York University on May 31, 2015
pigmentaoptic atrophy
and sensation were normal. However, past-pointing, adiadochokinesis, tremor of the hands and feet. nystagmus, dysmetria and truncal ataxia were
present.
~a~’~~f ~~M~!~. The bov’s bone age was 3 ?j years at 7 years ofage. He had sc!erotic bones ofthe base of the skull, and calcification oF the falx cerebri (Fig. 4), a previously titireported lesion. He had increased density and anterior protrusion of vertebral bodies, with persistent midvertebrat vascular grooves in the thoracic spine, and mild hindfoot valgtis, The pneumoencephaiogram was normaL The girt’s bone age was 6 years at 8 years oF age. She had a dense vertebral column first degree sporidylolisthesis.
Her
pelvis
was
sclerotic,
with decreased distance between the iliac bones. She had a cone-shaped terminal right third
phalanx. E~ro~~~g’
