Lesch-Nyhan disease in a 20-year-old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy

Lesch–Nyhan disease (LND) is a rare X-linked recessive genetic disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. The classic clinical condition is characterized by cognitive impairment, hypotonia at rest, choreoathetosis, hyperuricaemia and the hallmark symptom of severe and involuntary self-mutilation. We describe a man with LND who was initially thought to have suffered from a dyskinetic cerebral palsy after an uncomplicated inguinal herniorrhaphy under general anaesthesia at 5 1/2 months of age. In the absence of overt self-injurious behaviour, the diagnosis was not considered for nearly two decades. The diagnosis of LND was established at 20 years of age through clinical review, biochemical examinations and molecular analysis. HPRT haemolysate activity was 7.6% of the normal control, suggesting that he had a milder variant of the disease. Mutation analysis of the HPRT gene revealed a novel missense mutation, c.449T > G in exon 6 (p.V150G). Cascade testing of family members revealed that the mother was heterozygous for the mutation but two siblings (a brother and a sister) did not carry the sequence mutation. Whether the onset of neurological abnormalities in this particular case can be attributed to the general anaesthesia is discussed.

The phonological awareness abilities of children with cerebral palsy who do not speak

To investigate the importance of the connection between being able to speak and the emergence of phonological awareness abilities, the performance of children with cerebral palsy (five speakers and six non-speakers) was assessed at syllable, onset-rime, and phoneme levels. The children were matched with control groups of children for non-verbal intelligence. No group differences were found for the identification of syllables, reading non-words, or judging spoken rhyme. The children with cerebral palsy who could speak, however, performed better than the children with cerebral palsy who could not speak and the control group of children without disabilities, judging written words for rhyme. The children with cerebral palsy who could not speak performed poorly in comparison to those who could speak ( but not the control group of children) when segmenting syllables and on the phoneme manipulation task. The findings suggest that non-speaking children with cerebral palsy have phonological awareness performance that varies according to the mental processing demands of the task. The ability to speak facilitates performance when phonological awareness tasks ( written rhyme judgment, syllable segmentation, and phoneme manipulation) require the use of an articulatory loop.