A Malaysian family with congenital insensitivity to pain with anhydrosis was diagnosed based on clinical symptoms of chronic ulcers, joint deformities, malunited fractures, anhydrosis, and learning disabilities. We detected a compound heterozygous mutation in exon 16: V709L from the mother and G718S from the father. Two novel mutations were identified: at amino acid 709, a change of G to C at nucleotide 2209 (approximately 2209G to C) causing a valine to leucine substitution (V709L), and at amino acid 718, a change of G to A at nucleotide 2236 (approximately 2236G to A) causing a glycine to serine substitution (G718S). Polymorphisms identified were at nucleotides approximately 2113G to C and approximately 2176T to C.
Reported is the first case of syringomyelia and syringobulbia associated with Arnold Chiari I malformation in a Malaysian child. The initial complaint was that of unilateral anhidrosis of the face. The chief presenting features were dissociated sensory loss, asymmetrical weakness of the left upper limb associated with subluxation of left shoulder and signs of upper motor neurone lesion in the left lower limb. One unusual feature was the presence of vesiculation followed by ulceration of the pinnae of both ears. Magnetic resonance imaging (MRI) of the posterior fossa and cervical and thoracic cord facilitated the diagnosis and was the most useful diagnostic procedure in this child.