Table 1, table 2, and fig 1 summarise the clinical, radiological, and biological features of the 13 cases.
Table 1Clinical, biological, and radiological features of patients with Cockayne syndrome
Table 2Summary of features of patients with Cockayne syndrome compared with the largest series described previously2,7
Figure 1Patients with Cockayne syndrome. The only constant dysmorphic feature is enophthalmia. For patient 6, note the flat vertebral bodies which were one of the presenting symptoms. Consent was obtained for publication of this figure.
The series included nine males and four females. There were three familial cases with two patients (1–2, 7–8, and 10–11) in offspring of each family (1, 6, and 8). Average age of diagnosis was below 5 years old, ranging from 1 year (two recurrent cases in offspring) to 10 years. Five died between 4 and 7 years of age (patients 2, 4, 7, 8, and 9); eight are still alive.
Intrauterine growth retardation (IUGR) and microcephaly were noted in six cases. In addition, vermis atrophy (patient 11) and cardiomyopathy (patient 4) were occasionally detected prenatally.
Among postnatal manifestations, enophthalmia and growth failure were noted in all cases. Photosensitivity, defined as abnormal reaction to sun exposure (as papulovesicular eruption, rash with oedema, or atrophic scars) was observed in half of the patients (6/13). Among ophthalmological findings, cataracts, optic atrophy, and pigmentary retinopathy were found respectively in 8/13, 5/9, and 6/9. Sensorineural deafness was detected in 7/13 cases.
Death was due to cachexia in at least three patients, although gastrostomy was performed. Patient 2 died of bleeding oesophageal varices due to portal hypertension not related to viral or mitochondrial dysfunction.
The presenting symptoms were sometimes atypical, including cardiomyopathy (patient 4), telangiectasia and intraocular calcifications responsible for blindness in two siblings (patients 1 and 2), and flat vertebral bodies in another case (fig 1; patient 6).
Finally, unusual features were observed in a few cases: cardiomyopathy, vascular liver, telangiectasia, and flat vertebral bodies (fig 1).
Among the laboratory findings, anaemia was detected in two patients (2 and 9), partly due to cachexia for patient 9. Mild serum aminotransferase elevation (2N) was noted in 5/13 patients without any other hepatic dysfunction. Lactic acidaemia, high lactate levels in cerebrospinal fluid, or abnormal excretion of organic acids detected by urinary chromatography (in patients 1, 2, 3, 5, and 12) prompted us to test the mitochondrial respiratory chain. Enzyme assays performed on muscle and/or skin fibroblasts were normal.