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Cockayne syndrome associated with low CSF 5-hydroxyindole acetic acid levels
  1. C J ELLAWAY*†,
  2. A DUGGINS‡,
  3. V S FUNG‡,
  4. J W EARL§,
  5. R KAMATH,
  6. P G PARSONS**,
  7. J A ANTONY164,
  8. K N NORTH†‡
  1. * Western Sydney Genetics Program, Royal Alexandra Hospital for Children, NSW, Australia
  2. † Department of Paediatrics and Child Health, University of Sydney, NSW, Australia
  3. ‡ Department of Neurology, Westmead Hospital, Australia
  4. § Department of Biochemistry, Royal Alexandra Hospital for Children, NSW, Australia
  5. Department of Gastroenterology, Royal Alexandra Hospital for Children, NSW, Australia
  6. ** Queensland Institute of Medical Research, Australia
  7. 164 Department of Neurology, Royal Alexandra Hospital for Children, NSW, Australia
  8. ‡ Neurogenetics Research Unit, Royal Alexandra Hospital for Children, NSW, Australia
  1. Dr North, Department of Paediatric and Child Health, Royal Alexandra Hospital for Children, PO Box 3515, Parramatta 2124, NSW, Australia, KathryN{at}nch.edu.au

https://doi.org/10.1136/jmg.37.7.553

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    Editor—Cockayne syndrome is a rare, clinically heterogeneous disorder, characterised by severe growth failure, cognitive impairment, characteristic facies, and photosensitivity. In the older patient the face has a characteristic aged appearance with sunken orbits, a relatively large, “beak-like” nose, and narrow mouth and chin. Both the central and peripheral nervous systems are involved in this neurodegenerative disorder with pigmentary retinopathy, delayed nerve conduction velocities, sensorineural hearing loss, progressive spasticity, and cerebellar involvement with dysarthria, tremor, and ataxia. The cerebral histopathological changes most commonly seen are patchy demyelination of the subcortical white matter and microscopic calcifications throughout the central nervous system. Calcification of the basal ganglia may be visible on CT scan.1-3 The diagnosis of Cockayne syndrome is made on clinical grounds in association with the failure of RNA synthesis in cultured fibroblasts or lymphoblastoid cells to recover to normal rates after UV-C irradiation.2 4 Inheritance is presumed to be autosomal recessive.1

    Here we report a patient with Cockayne syndrome in whom cerebrospinal fluid 5-hydroxyindole acetic acid was markedly reduced. To date there are no reports of abnormalities of the cerebrospinal fluid neurotransmitters in association with Cockayne syndrome. This finding may provide insight into the pathogenesis of the central nervous system abnormalities. Furthermore we have described the patient's body composition in terms of resting energy expenditure, total body protein, fat, and bone mineral density which are relevant to management of the progressive cachexia associated with this disorder.

    The proband, a 16 year old male, is the third child of consanguineous Sri Lankan parents and was born at term with a birth weight of 2722 g. His early expressive speech development was delayed, but gross and fine motor development were within normal limits. He initially presented at 8 years of age with tremor and poor motor coordination. A …

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