Our patient presented at 3 months of age with microcephaly, nystagmus, optic atrophy and developmental delay. Birth weight was 2.7 kg. At 11 months he was labeled as SS on the basis of microcephaly, short stature and facial features. Over the next 4 years he developed marked growth failure, mental retardation, ataxia, sunken eyes, photosensitivity, and dental caries. Kyphosis, contractures, lens opacities and long extremities with shortened trunk were present at the time of death at 8 years of age. We identified 132 CS case reports in the world literature comprised of 72 males and 56 females (4 undescribed). Mean (±S.D.) birth weight was 2.9(0±.6)kg. Mean age at death (27 cases) was 14(±8) years. The most common neurologic abnormalities noted were mental retardation (90%), microcephaly (83%), motor disturbance (71%), deafness (47%), intracranial calcification (39%), ventricular dilatation (23%) and peripheral neuropathy (21%). Reported physical manifestations were cachectic dwarfism (91%), characteristic facies (89%), photosensitivity (60%), contractures (52%), long extremities with shortened trunk (43%), dental caries (42%), small or undescended testes (38% of males), kyphosis (21%). Opthalmologic features included retinal pigmentation (51%), optic atrophy (37%), and cataracts or lens opacities (27%). CS is an autosomal recessive leukodystrophy with considerable variation in the expression and progression of clinical manifestations. The constellation of clinical features and the inexorable course of physical and mental deterioration which distinguish CS from SS will be discussed.
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Lewis, J. COCKAYNE SYNDROME (CS) MASQUERADING AS SECKEL SYNDROME (SS). Pediatr Res 21, 229 (1987). https://doi.org/10.1203/00006450-198704010-00376
European Journal of Pediatrics (1990)