Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Isolated motor disturbances in the paediatric population are uncommon presentations to the emergency department. Choreiform movements have a broad differential diagnosis and may present insidiously with progressive worsening of asymmetric clumsiness, hypotonia and dysarthria. The incidence of Sydenham's chorea (SC) caused by acute rheumatic fever (ARF) is very rare in developed countries. We report a previously healthy, vaccinated 9-year old male who presented to our ED with intermittent and progressive right sided clumsiness for four weeks. Physical examination findings showed dysdiadokinesis and dysmetric movements of the right side, which varied in intensity and were less pronounced on serial re-examination during the same ED visit. Basic bloodwork, MRI and MRA/V showed no abnormalities, and the patient was discharged home with urgent neurology follow-up. He re-presented to our ED four days later with worsening gait and inability to hold a pencil at school. He was subsequently diagnosed with chorea by the neurology team. The cause of chorea was later determined to be SC, and the patient's throat swab came back positive for group A-beta hemolytic strep (GAS) infection. We explore current literature regarding the various presentations of ARF, differential considerations in acute chorea, and diagnostic studies needed to determine the etiology of acute chorea. With the low incidence of chorea in developed nations, this diagnosis can be easily overlooked. We highlight the importance of this diagnosis, as well as primary and secondary treatment in ARF.
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PMID:You can dance if you want to: A case of Sydenham's chorea. 3147 78

Potocki-Lupski syndrome is a condition mainly characterized by infantile hypotonia, developmental delay/intellectual disability (DD/ID), and congenital anomalies, caused by duplications of the 17p11.2 region, encompassing RAI1 gene. Its clinical presentation is extremely variable, especially for what concerns the cognitive level and the behavioral phenotype. Such aspects, as well as the dysmorphic/malformative ones, have been covered by previous studies; otherwise neurological features have never been systematically described. In order to delineate the neurological phenotype of Potocki-Lupski Syndrome, we collect an 8-patients cohort. Developmental milestones are delayed and a mild to moderate cognitive impairment is present in all patients, variably associated with features of autism spectrum disorder, behavioral disturb, and sleep disturb. Hypotonia appears a less frequent finding than what previously reported, while motor clumsiness/coordination impairment is frequent. EGG registration demonstrated a common pattern with excess of diffuse rhythmic activity in sleep phases or while the patient is falling asleep. Brain MRI did not reveal common anomalies, although unspecific white matter changes may be present. We discuss such findings and compare them to literature data, offering an overview on the neurological and cognitive-behavioral presentation of the syndrome.
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PMID:Neurological phenotype of Potocki-Lupski syndrome. 3304 31


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