Case of the Month
Section Editor: Nicholas Stence, MD
Children's Hospital Colorado, Aurora, CO
April 2018
Next Case Coming May 1...
Cockayne Syndrome
- Background:
- Cockayne syndrome (CS) is a rare, autosomal recessive, multisystem disorder caused by mutations in CSA and CSB genes, resulting in defective DNA repair mechanisms.
- Clinical Presentations:
- CS is characterized by abnormal light sensitivity, growth retardation, facial dysmorphism, facial nevi, retinitis pigmentosa, and mental retardation.
- Type I: classic or moderate form, manifests during infancy, death occurs in the first decade of life
- Type II: severe and begins early in life, leads to death in infancy, overlaps with cerebro-oculo-facio-skeletal syndrome
- Type III: shows milder signs and follows a more protracted course into adulthood
- Xeroderma pigmentosum-Cockayne syndrome
- CS is characterized by abnormal light sensitivity, growth retardation, facial dysmorphism, facial nevi, retinitis pigmentosa, and mental retardation.
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Key Diagnostic Features:
- ​Cerebral calcifications:
- Observed in all patients older than 3 years of age
- Typically bilateral and symmetric, ranging from punctuate to severe, most frequent in putamina
- Also calcifications in cortex, dentate nuclei, caudate nuclei, pallidi, and rarely in white matter or thalami
- No correlation between extent or severity of calcifications and patient’s age, severity of neurologic symptoms, or degree of cerebral atrophy
- Brain atrophy is infra- and supratentorial.
- White matter abnormalities characterized by high T2 signal intensity and moderately high T1 signal intensity, consistent with hypomyelination
- Calvarial thickening is a minor criterion for the diagnosis of classic CS.
- ​Cerebral calcifications:
- Differential Diagnosis:
- Fahr disease: Familial cerebral ferrocalcinosis or primary familial brain calcification tends to occur between ages 40 and 60 years.
- Pelizaeus-Merzbacher disease: X-linked leukodystrophy without intracranial calcifications
- Aicardi-Goutieres syndrome: Punctate and small basal ganglia calcifications
- Cytomegalovirus infection: Periventricular and cortical malformations with thick calcifications in germinal matrix and periventricular regions and faint/punctate basal ganglia calcifications
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Treatment:
- No effective therapies exist, only supportive measures.
- Prognosis is poor.
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