Case Reports

16 April 2009 New England Journal of Medicine case of a 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members. Click here for details.

Parent account on the Biotinidase Deficiency Family Support Group web site. A one month old with alopecia and lethargy.  Click here for details.

Parent account on the International Organization of Glutaric Acidemia web site. A 7 month old with seizures and dysphagia.  Click here for details.

27 November 2004 parent account on The Gauchers Association web site. A ten month old with oculomotor apraxia and dysphagia.  Click here for details.

Parent account on the Children's Gaucher Research Fund web site. Inguinal hernia, failure to thrive and hypertonia in an infant.  Click here for details.

March 2002 Save Babies Through Screening Foundation personal story. Sudden coma and hypoglycemia in a toddler, followed by sudden death as an adult.  Click here for details.

2002 Baylor College of Medicine Department of Neurology Case #71. Childhood onset of developmental delay followed by psychomotor regression, seizures, and optic atrophy.  Click here for details.

2002 Baylor College of Medicine Department of Neurology Case #67. A thirty one year old woman with numbness and burning dysesthesias in her feet and recent constipation.  Click here for details.

2001 Kennedy's Disease Association personal story. A 50 year old man describes a history of cramps and tremor.  Click here for details.

2001 Baylor College of Medicine Department of Neurology Case #59. Neonatal onset of tachypnea, disconjugate gaze and hypotonia.  Click here for details.

2000 Kennedy's Disease Association personal story. A 50 year old man describes a history of weakness and spasms.  Click here for details.

2000 Kleine-Levin Syndrome Foundation personal story. a 14 year old boy develops recurrent episodes of excessive sleep.  Click here for details.

March 2000 Archives of Neurology paper by Verghese et al. A two year old girl with stridor, splenomegaly and frequent falls.  Click here for details.

September 1999 Save Babies Through Screening Foundation personal story. A newborn with jaundice, vomiting and lethargy.  Click here for details.

1997 Baylor College of Medicine Department of Neurology Case #7. Adult onset of weakness, postural instability and visual abnormalities.  Click here for details.

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If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.