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Table 1 Timeline of major clinical events for case study

From: The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

Dates

Relevant past medical history and interventions

8-DEC-1965

This patient was known to have a history of Waardenburg syndrome. She had a family history of congenital deafness and pigment abnormalities. A half-sister who predeceased her had also been diagnosed with SS disease

Dates

Summaries from initial and follow-up visits

Diagnostic testing (including dates)

Interventions

8-DEC-1965

Presented with jaundice. Diagnosed as having SS disease, in addition to Waardenburg syndrome

Hb electrophoresis

Referred to a specialist unit for sickle cell disease

8-JUN-1966

Acquired megacolon

Barium enema

High rectal biopsy

2-MAR-1967

Colon aganglionosis

–

Duhamel procedure

1978

Alopecia totalis

–

Hair pomade

7-NOV-1990

Leg ulcer

–

Regular dressing

9-MAR-2012

Bone pain crisis, suspected acute chest syndrome

Complete blood count

Buscopan (hyoscine butylbromide) 20 mg intramuscularly, Gravol (dimenhydrinate) 50 mg intramuscularly, and codeine 60 mg orally as “immediate” doses

  1. Hb hemoglobin, SS disease homozygous sickle cell disease