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Erlenmeyer Flask deformity is a common feature of patients with Gaucher disease. (Contributed by Dr. John Barranger.)
Childhood Degenerative & Metabolic Disorders
Aug. 06, 2021
Lambert-Eaton myasthenic syndrome presents with fatigue, proximal limb weakness, and diminished muscle stretch reflexes. Small cell lung carcinoma is associated with up to 50% of cases. It is the most common neurologic paraneoplastic disorder in adults.
May. 18, 2017
Cerebellar mutism is characterized by partially reversible decreased production of speech and often mutism, frequently in association with diffuse cerebellar dysfunction (ataxia and axial hypotonia), and a variety of neurobehavioral affective disturbances consisting of prominent emotional lability with irritability and apathy. It occurs most often after the surgical resection of posterior fossa tumors but can be seen after trauma, hemorrhage, or ischemic injury involving the cerebellum or brainstem.
Jun. 10, 2019
Behavioral & Cognitive Disorders
Intellectual disability is currently defined by the American Association on Intellectual and Developmental Disabilities as “a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. This disability originates before age 18.” Diagnosis requires standardized measurement of both intelligence and adaptive function and should be periodically re-evaluated with repeat psychological, educational, and achievement assessment.
Sep. 12, 2016
Epilepsy & Seizures
Childhood absence epilepsy manifests with severe and frequent absence seizures, with abrupt onset and termination of marked impairment of consciousness. It is the prototype idiopathic generalized epilepsy syndrome of typical absence seizures, affecting otherwise normal children.
Apr. 25, 2021
Anti-IgLON5 disease is characterized by a distinctive sleep disorder with NREM and REM parasomnia, associated with stridor and obstructive sleep apnea. Symptoms of bulbar dysfunction, gait abnormalities, chorea, and cognitive impairment may also be present. It is associated with antibodies in serum and CSF against IgLON5.
Sep. 16, 2019
Ataxia is both a neurologic symptom and a sign of incoordination whereby movements are poorly organized and usually relate to dysfunction of the cerebellum or its numerous connections with other brain regions. Specific symptoms that people with ataxia may develop include an unstable stance, increased body sway, side-to-side truncal movements, oscillopsia due to abnormal eye movements, a need for back support when sitting, and widening of stance when standing or walking.
Jun. 20, 2021