Neurological Syndromes Educational Cases

• Slurred speech and gait instability beginning at 6 years old
• Kyphosis and macrocephaly beginning at 6 months old
• Microcephaly, hypotonia and syndactyly evaluated at 2 weeks old
• Infantile hypotonia, microcephaly and deafness
• Irritability, hypotonia and areflexia in a one month old
• Irritability and hypotonia in a 3 month old
• Hypotonia, upgoing toes and dystonia in a 3 year old
• 10 year old with dysarthria, dysphagia and tremor
• 10 year old with myoclonic seizures and tremor
• 6 month old with a large tongue and a hernia
• Three month old with irritability and myoclonus
• One month old with joint laxity
• Newborn with cardiac disease and dysmorphic features
• Six year old with attention deficit disorder and cognitive decline
• Newborn with cataracts and retinal dystrophy
• Six year old with seizures and lifelong visual impairment
• One year old with spasticity and intellectual regression
• 6 month old with hypotonia and motor delay
• 3 month old with episodes of ataxia
• One month old with seizures, hypotonia and gastroesophageal reflux
• Three month old with vomiting, irritability and frequent infections 
• 3 year old boy with intellectual regression and stereotypies
• 3 year old girl with intellectual regression and stereotypies
• Newborn with lethargy and hepatomegaly
• Seven month old with failure to thrive and hypotonia
• Six month old with macrocephaly and choreoathetosis 
• 31 year old man with dementia and dystonia and a history of illness in infancy
• 6 year old boy with psychotic delusion and visual impairment
• Neonate with hydrops, contractures and seizures

Thanks to Drs. Rob Forsyth, Mark Goetting, Adina Joseph, Barrie Kay, Omar Khwaja, Mark Korson, C. J. Malanga, Eileen Ouellette, Marc Patterson, James Reggin, Michael Rivkin, Tally Sagie, Michael Segal, Hagit Toledano-Alhadef and Huda Zoghbi for submitting educational cases. 

All cases are real, contributed by doctors involved.  For many cases, but not all, the software lists the correct diagnosis first in the differential diagnosis.  Submitting changes to the database could make the differential diagnoses even better; for details see the video demos here.

Clinicians are encouraged to submit cases.  To do so, enter the case into the software, click "File" then "Publish case" and follow the instructions.  The cases are public (and anonymous) so it is OK to circulate or post URLs for the Shared Cases.

You can read more about Educational Cases here and see video demos here.