Presentation on theme: "S.O.D. - The Impact of Late Diagnosis"— Presentation transcript:
1 S.O.D. - The Impact of Late Diagnosis Rebecca MayersRGN RSCNPaediatric Endocrine Nurse SpecialistGreat Ormond Street Hospital NHS Trust
2 CharlotteNVD 42 weeks 3.76kgSCBU – neonatal hepatitis & ABO incompatibleTransfer to KCH LondonDischarged at one monthUnder KCH until age 5Squint repair Moorfields – March 2006No allergies, no medicationsImmunisations up to dateBorn in Essex at 42 weeks (NVD) and weighing 3.76kg she was admitted to SCBU with jaundice and unspecified neonatal hepatitis and ABO incompatible. All babies with neonatal hepatitis should have their cortisol function tested.Transferred to Kings College Hospital where she had a blood transfusion, liver biopsy, steroids and phototherapy. She initially had failure to thrive but was discharged home at one month. She remained under KCH until age 5 yearsRecently under Moorfield’s Eye Hospital for squint repair and was noted to take a long time to recover from the general anaesthetic.
3 Referral Chronological age 9.696years Mainstream school Physically activeLocal investigations into short statureHypothyroid FT4=7.2 TSH 2.81Low cortisols (random) 21, 66Café au lait spots (? Neurofibromatosis type1)A 9 ½ year old girl was referred to Professor Mehul Dattani from her local hospital after investigations into short stature where she was found to be hypothyroid (T4 = 7.2 TSH 2.81) and had low random cortisol levels (21, 66). She also had three café au lait spots. No treatment had been commenced. She attended mainstream school but was reported to be slightly behind in English and Maths. She swam regularly and was a keen dancer – disco and ballroom.
4 Admission Wt 25.6kg (>9th; -0.82) Ht 121cm (0.4 – 2nd; -2.33 SDS) 24hr cortisol profileKaryotypeThyroid function testsPaired urine/plasma osmolalitiesMRI brainGlucagon testShe was initially admitted to the unit for karyotype, synacthen test, TFTs, 24 hour cortisol profile, IGF1BP3, paired osmolality, electrolytes and an MRI of her brain.
7 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 smallPPOCAPPP – Posterior pituitaryAP – Anterior pituitaryOC – Optic Chiasm
8 Diagnosis Not NF1 Hypopituitarism MRI findings Therefore diagnosed as Septo-Optic Dysplasia
9 Septo-Optic Dysplasia Congenital SyndromeHypoplasia of the optic nerveHypopituitarismAbsence of the septum pellucidum/hypoplasia or absence of corpus callosumVarying degrees of the conditionRarely a mutation of HESX1 gene, only one found at the momentOften diagnosed in infancy following a collapse from underlying illness or hypoglycaemiaFacts and figures – 1 in 10,000 (figures come from the Manchester endocrinologists)Extremes – Can have no visual problems or be totally blindProblems - Can have Diabetes Insipidus as well as being hypothyroid, cortisol deficient, GHD and need help with puberty.Long term they can have obesity, sleep disturbance and autistic tendencies.
10 The plan Medications on discharge Hydrocortisone 5mg/2.5mg/2.5mg Levothyroxine 25mcgEmergency hydrocortisone kitCommenced 0.6mg GH Saizen EasypodProfessor Dattani diagnosed Septo-Optic Dysplasia and a meeting took place to discuss this with the family and Endocrine Clinical Nurse Specialist. She was discharged home on hydrocortisone 5mg/2.5mg/2.5mg. Told to commence levothyroxine (25mcg) 48 hours after hydrocortisone. CNS discussed emergency management and liaised with school. She returned a couple for weeks later for a glucagon test and was found to be growth hormone deficient.
14 Ongoing issues Age at diagnosis No preceding illness so acceptance difficultLife changingQuestioning the need for the treatmentImpact of late diagnosis: The family require ongoing support and a high level of input as they have found it hard to come to terms with the diagnosis. They are questioning the need for hydrocortisone and have had to had the diagnosis covered several times.Because Charlotte had been well, the impact was greater.Acceptance stages (Kubler-Ross)
15 ReferencesBrook C, Hindmarsh P (2001) Clinical Paediatric Endocrinology, Blackwel Science Ltd.Dattani M (2001) Septo-Optic Dysplasia: From Mouse to Man, Clinical Pediatric EndocrinologyKelberman D, Dattani M (2007) Genetics of Septo-Optic Dysplasia, Pituitary