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S.O.D. - The Impact of Late Diagnosis

S.O.D. - The Impact of Late Diagnosis. Rebecca Mayers RGN RSCN Paediatric Endocrine Nurse Specialist Great Ormond Street Hospital NHS Trust. Charlotte. NVD 42 weeks 3.76kg SCBU – neonatal hepatitis & ABO incompatible Transfer to KCH London Discharged at one month Under KCH until age 5

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S.O.D. - The Impact of Late Diagnosis

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  1. S.O.D. - The Impact of Late Diagnosis Rebecca Mayers RGN RSCN Paediatric Endocrine Nurse Specialist Great Ormond Street Hospital NHS Trust

  2. Charlotte • NVD 42 weeks 3.76kg • SCBU – neonatal hepatitis & ABO incompatible • Transfer to KCH London • Discharged at one month • Under KCH until age 5 • Squint repair Moorfields – March 2006 • No allergies, no medications • Immunisations up to date

  3. Referral • Chronological age 9.696years • Mainstream school • Physically active • Local investigations into short stature • Hypothyroid FT4=7.2 TSH 2.81 • Low cortisols (random) 21, 66 • Café au lait spots (? Neurofibromatosis type1)

  4. Admission • Wt 25.6kg (>9th; -0.82) Ht 121cm (0.4 – 2nd; -2.33 SDS) • 24hr cortisol profile • Karyotype • Thyroid function tests • Paired urine/plasma osmolalities • MRI brain • Glucagon test

  5. Results

  6. Cortisol Profile

  7. OC PP AP MRI • Ectopic neurohypophysis with an absent pituitary stalk. • Pituitary gland small. • Optic Nerves do not appear to unite normally in the midline resulting in a wide optic chiasm with a slightly abnormal configuration. • Right optic tract is small

  8. Diagnosis • Not NF1 • Hypopituitarism • MRI findings • Therefore diagnosed as Septo-Optic Dysplasia

  9. Septo-Optic Dysplasia • Congenital Syndrome • Hypoplasia of the optic nerve • Hypopituitarism • Absence of the septum pellucidum/hypoplasia or absence of corpus callosum • Varying degrees of the condition

  10. The plan • Medications on discharge • Hydrocortisone 5mg/2.5mg/2.5mg • Levothyroxine 25mcg • Emergency hydrocortisone kit • Commenced 0.6mg GH Saizen Easypod

  11. Steroid card

  12. Emergency Injection

  13. Medic Alert

  14. Ongoing issues • Age at diagnosis • No preceding illness so acceptance difficult • Life changing • Questioning the need for the treatment

  15. References • Brook C, Hindmarsh P (2001) Clinical Paediatric Endocrinology, Blackwel Science Ltd. • Dattani M (2001) Septo-Optic Dysplasia: From Mouse to Man, Clinical Pediatric Endocrinology • Kelberman D, Dattani M (2007) Genetics of Septo-Optic Dysplasia, Pituitary

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