RESUMEN
De novo heterozygous missense mutations in TRPM3 have been shown to cause developmental and epileptic encephalopathies (DEE). It is a very rare condition, as only 9 patients have been described to date. We report here a novel patient carrying the recurrent p.Val837Met variant and presenting new clinical features, such as trigonocephaly, expanding the phenotypical spectrum of the disease.
Asunto(s)
Mutación Missense , Fenotipo , Espasmos Infantiles/genética , Canales Catiónicos TRPM/genética , Preescolar , Humanos , Masculino , Espasmos Infantiles/diagnóstico por imagen , Espasmos Infantiles/patologíaRESUMEN
BACKGROUND: Transverse-plane foot deformities are a frequently encountered issue in children with neurological disorders. They are the source of many symptoms, such as pain and walking difficulties, making their prevention very important. OBJECTIVES: We aim to describe the use and tolerability of a side pole static ankle foot orthosis used to prevent transverse-plane foot deformities in children with neurologic disorders. STUDY DESIGN: Monocentric, retrospective, observational study. METHODS: Medical data were collected from 103 children with transverse-plane foot deformities in one or both feet caused by a neurological impairment. All children were braced between 2001 and 2010. RESULTS: Unilateral orthosis was prescribed for 32 children and bilateral orthosis for 71. Transverse-plane foot deformities were varus in 66% of the cases and an equinus was associated in 59.2% of the cases. Mean age for the first prescription was 8.6 years. For the 23 patients present at the 4-year visit, 84.8% still wore the orthosis daily, and 64.7% wore the orthosis more than 6 h per day. The rate of permanent discontinuation of wearing the orthosis was 14.7%. CONCLUSION: The side pole static ankle foot orthosis is well tolerated with very few side effects, which promotes regular wearing and observance. Clinical relevance Side pole static ankle foot orthoses are well tolerated and can be safely used for children with foot abnormalities in the frontal plane that have a neurological pathology origin.