SimulConsult Clinical Case Reports

Case Reports

Parent account on the Biotinidase Deficiency Family Support Group web site. The case: A one month old with alopecia and lethargy. Click here for details.
Parent account on the International Organization of Glutaric Acidemia web site. The case: A 7 month old with seizures and dysphagia. Click here for details.
27 November 2004 parent account on The Gauchers Association web site. The case: A ten month old with oculomotor apraxia and dysphagia. Click here for details.
Parent account on the Children's Gaucher Research Fund web site. The case: Inguinal hernia, failure to thrive and hypertonia in an infant. Click here for details.
March 2002 Save Babies Through Screening Foundation personal story. The case: 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. The case: 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. The case: 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. The case: 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. The case: neonatal onset of tachypnea, disconjugate gaze and hypotonia. Click here for details.
2000 Kennedy's Disease Association personal story. The case: a 50 year old man describes a history of weakness and spasms. Click here for details.
2000 Kleine-Levin Syndrome Foundation personal story. The case: 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. The case: A two year old girl with stridor, splenomegaly and frequent falls. Click here for details.
September 1999 Save Babies Through Screening Foundation personal story. The case: a newborn with jaundice, vomiting and lethargy. Click here for details.
1997 Baylor College of Medicine Department of Neurology Case #7. The case: adult onset of weakness, postural instability and visual abnormalities. Click here for details.

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. For cases on the Web in which names are used, names are replaced by initials to conform with standard medical format for case presentations.