ABSTRACT
Background: PURA syndrome is a rare genetic disorder characterized by neonatal hypotonia, neurodevelopmental delay, facial dysmorphism, epileptic seizures, complex movement disorders, among other features. Although many pathogenic variants have been reported, there is currently no clear genotype-phenotype association identified. Cases: Four patients diagnosed with PURA syndrome, despite carrying different pathogenic variants, presented a similar mixed hyperkinetic movement disorder. The phenomenology presented a complex set of symptoms, including chorea, interspersed with dystonic and uncoordinated movements. All patients presented also hypotonia, nystagmus, feeding difficulties, craniofacial dysmorphisms. Hypersomnolence and breathing problems were common and observed in three patients, while seizures were found in three patients. Conclusions: PURA syndrome may be considered in the differential diagnosis of infants with severe hypotonia, feeding difficulties and severe developmental delay with epileptic seizures, that start to develop a mixed hyperkinetic movement disorder. These complex movements may be an important clue for the diagnosis of this rare disorder.
Subject(s)
Chorea , Epilepsy , Humans , Chorea/diagnostic imaging , DNA-Binding Proteins , Transcription FactorsABSTRACT
PURPOSE: The purpose of this study was to evaluate the presence of signs and symptoms of temporomandibular disorders (TMD) in children with headaches in a neuropediatric ambulatory. METHOD: Fifty patients between 4 and 18 years of age were examined: 31 had headaches (24 migraine, 4 tension type and 3 unspecific headache) and 19 formed the control group. The data collection was comprised of a structured questionnaire answered by the children's parents, and a subjective evaluation about the childrens emotional state. A specific questionnaire for TMD was applied, followed by a clinical dental examination of the children. As signs of TMD, mouth opening limitation, mandibular trajectory deviation in opening mouth, and joint noise were considered. As symptoms, pain on palpation of masseter and temporal muscles and on the poromandibular joint. RESULTS: A significant increase in signs and symptoms of TMD was found in patients with headaches when compared to the control group. There was also a significant difference in signs and symptoms of TMD according to age (increased with age) and emotional state (tense>calm). CONCLUSION: There is a higher frequency of TMD in pediatric patients with headaches; thus, it is important to look for TMD signs and symptoms in this population.
Subject(s)
Emotions , Headache Disorders/diagnosis , Temporomandibular Joint Disorders/diagnosis , Adolescent , Age Factors , Case-Control Studies , Child , Child Behavior/physiology , Child Behavior/psychology , Child, Preschool , Facial Pain/physiopathology , Female , Headache Disorders/psychology , Humans , Male , Masticatory Muscles/physiopathology , Migraine Disorders/diagnosis , Migraine Disorders/psychology , Sex Distribution , Sex Factors , Temporomandibular Joint/physiopathology , Temporomandibular Joint Disorders/complications , Temporomandibular Joint Disorders/physiopathology , Tension-Type Headache/diagnosis , Tension-Type Headache/psychologyABSTRACT
PURPOSE: The purpose of this study was to evaluate the presence of signs and symptoms of temporomandibular disorders (TMD) in children with headaches in a neuropediatric ambulatory. METHOD: Fifty patients between 4 and 18 years of age were examined: 31 had headaches (24 migraine, 4 tension type and 3 unspecific headache) and 19 formed the control group. The data collection was comprised of a structured questionnaire answered by the children's parents, and a subjective evaluation about the childrenÆs emotional state. A specific questionnaire for TMD was applied, followed by a clinical dental examination of the children. As signs of TMD, mouth opening limitation, mandibular trajectory deviation in opening mouth, and joint noise were considered. As symptoms, pain on palpation of masseter and temporal muscles and on the poromandibular joint. RESULTS: A significant increase in signs and symptoms of TMD was found in patients with headaches when compared to the control group. There was also a significant difference in signs and symptoms of TMD according to age (increased with age) and emotional state (tense> calm). CONCLUSION: There is a higher frequency of TMD in pediatric patients with headaches; thus, it is important to look for TMD signs and symptoms in this population.
OBJETIVO: Avaliar a presença de sinais e sintomas de disfunção temporomandibular (DTM) em crianças com cefaléias em um ambulatório de neuropediatria. MÉTODO: Foram examinados 50 pacientes com idade entre 4 e 18 anos, 31 com cefaléias (24 com enxaqueca, 4 com cefaléia tensional e 3 com cefaléia inespecífica) e 19 do grupo controle. Os dados compreenderam um questionário estruturado respondido pelos pais e uma avaliação subjetiva sobre o estado emocional das crianças. Foi aplicado um questionário específico para DTM e realizado um exame clínico dental. Foram considerados como sinais de DTM: limitação da abertura bucal, desvio da trajetória ao abrir a boca e ruído articular. Quanto aos sintomas, foram considerados: dor à palpação dos músculos masseter e temporal e na articulação temporomandibular. RESULTADOS: Foi encontrado um aumento significante de sinais e sintomas de DTM em pacientes com cefaléias quando comparados com o grupo controle. Houve, também, uma diferença significante de sinais e sintomas de DTM de acordo com a idade (aumento com a idade) e estado emocional (tenso>calmo). CONCLUSÃO: Há maior freqüência de sinais e sintomas de DTM no grupo de pacientes pediátricos com cefaléias, sendo importante avaliar essa patologia nessa população.
