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- Title
Homozygous variegate porphyria presenting with developmental and language delay in childhood.
- Authors
Pinder, V. A. E.; Holden, S. T.; Deshpande, C.; Siddiqui, A.; Mellerio, J. E.; Wraige, E.; Powell, A. M.
- Abstract
Variegate porphyria is an autosomal dominant disorder that usually presents with photosensitivity and acute neurological crises in adulthood. It is caused by heterozygous mutations in the protoporphyrinogen oxidase gene ( PPOX). A rarer variant, homozygous variegate porphyria ( HVP), presents in childhood with recurrent skin blisters and scarring. More variable features of HVP are short stature, brachydactyly, nystagmus, epilepsy, developmental delay and mental retardation. We describe a child who presented with nystagmus, developmental delay and ataxia, combined with a photosensitive eruption. Analysis of porphyrins in plasma, urine and stool supported a clinical diagnosis of HVP. DNA from the patient showed that he is compound heterozygous for two novel missense mutations in the PPOX coding region: c.169G>C (p.Gly57Arg) and c.1259C>G (Pro420Arg). Interestingly, cranial magnetic resonance imaging showed an absence of myelin, a feature not previously reported in HVP, which expands the differential diagnosis of childhood hypomyelinating leucoencephalopathies.
- Subjects
VARIEGATE porphyria; PROTOPORPHYRINOGEN oxidase; PIGMENTATION disorders; DEVELOPMENTAL disabilities; ANTHROPOMETRY; BRAIN diseases; BRACHYDACTYLY
- Publication
Clinical & Experimental Dermatology, 2013, Vol 38, Issue 7, p737
- ISSN
0307-6938
- Publication type
Article
- DOI
10.1111/ced.12071