جستجوی مقالات مرتبط با کلیدواژه « hypertonia » در نشریات گروه « پزشکی »

In neonates with more than one clinical abnormality, we always look for a unifying diagnosis that explains the entire clinical presentation. In rare instances, two conditions can co-exist. Here we report a neonate born out of consanguineousmarriage presenting at 48 hours of life with microcephaly, encephalopathy, hypertonia. He had excessive weight loss,persistent hyperkalaemia, shock and 17- hydroxyprogesterone was elevated. Steroids were started for adrenal insufficiency. Magnetic resonance imaging (MRI) of the brain revealed T2 hyperintensity of cerebral white matter and cerebral atrophy. Clinical exome sequencing (CES) revealed a pathogenic homozygous missense variation of CYP21A2 gene responsible for congenital adrenal hyperplasia and also a homozygous missense variant of unknown significance (VUS) of VARS gene implicated in Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA). Baby was neurologically abnormal at discharge. In the setting of consanguinity, there is a possibility of two genetic conditions. Clinical exome sequencing is useful in demystifying the diagnosis in complex clinical presentation.

The complications associated with spastic cerebral palsy can affect the physical ability and quality of life of individuals suffering from this motor disorder. The aim of this study was to assess the relationship between quality of life and hypertonia in adults with spastic cerebral palsy. In an analytical cross sectional study, 70 subjects with the diagnosis of spastic cerebral palsy from three Ra’ad Rehabilitation Goodwill complexes in Tehran and Karaj cities took part in this study through convenient sampling. The severity of spasticity and contracture of the knee flexors were measured by Modified Tardieu Scale. Also the quality of life was assessed through World Health Organization quality of life-BREF questionnaire. To analyze data, Pearson and spearman correlation coefficient were used. Participants of this study were 42.90% male, 57.10% female with mean age 26.24±5 years. No correlation existed between quality of life with knee flexor muscles spasticity. However, psychological and environmental domains showed low correlations with knee extension range (respectively r=0.26 and r=0.28; P<0.05). The influences of the mechanical component of hypertonia (contracture) on the quality of life are more prominent than neural factors such as spasticity.