An Irritable Infant With a Surprise Diagnosis Dr Mick Henderson - - PowerPoint PPT Presentation

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Oct 29, 2023 182 likes •348 views

Case Presentation: An Irritable Infant With a Surprise Diagnosis Dr Mick Henderson Department Clinical Biochemistry and Immunology Leeds Teaching Hospitals Trust Presentation 2 year old female infant Presented to local DGH with 2

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Case Presentation:

An Irritable Infant With a Surprise Diagnosis

Dr Mick Henderson Department Clinical Biochemistry and Immunology Leeds Teaching Hospitals Trust

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Presentation

2 year old female infant
Presented to local DGH with

2 month history of

– vomiting – intermittent diarrhoea – lethargy and loss of appetite

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Past Medical History

Normal term delivery weight 2.99 kg
Unrelated parents
two older healthy sibs
occasional episodes of profuse vomiting
therwise nothing of note

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On Examination

Pale
Chest X-ray: NAD
Abdomen difficult to palpate due to

tensing

Abdominal ultrasound reported as normal

apart from loops of static bowel

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Investigations

U&e, LFTs, unremarkable
FBC normal except for platelets, 583

(169-358)

Ammonia 22, lactate 1.4
CRP 20.7 (0-8)
Urine culture: neg

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Metabolic testing

Samples sent for metabolic screening Due to unexplained vomiting

Plasma and urine amino acids: NAD
But……………

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Urine Organic Acids

10.00 15.00 20.00 25.00 30.00 35.00 40.00 45.00 50.00 200000 400000 600000 800000 1000000 1200000 1400000 1600000 1800000 2000000 Time--> Abundance TIC: 6801017.D

HVA HMMA

Elevated HMMA and HVA, otherwise NAD

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Catecholamine Metabolites

Repeat samples requested for quantitation (preserved in acid) HVA; 86 umol/mmol creat (< 23) HMMA; 147 umol/mmol creat (< 14) Dopamine; 27.1 umol/mmol creat (< 1.75) Confirmation of elevated catecholamine excretion. Not consistent with an IEM, but pathognomonic of a tumour, neuroblastoma

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Clinical Examination at Regional Centre

High resolution CT showed abdominal

showed calcified mass on the midline, approx 9x9 cm encasing aorta and vena cava

Smaller sub-clavicular mass
No evidence of metastases, bone and lungs

and clear by MIBG scan

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Treatment and Prognosis

Parents understandably distressed at

diagnosis but early detection should improve prognosis

Chemotherapy started within two weeks of

initial evidence of diagnosis

Prognosis depend on n-myc status not yet

determined

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Neuroblastoma

arise from developing sympathetic nerve

cells, neuroblasts

common solid childhood tumour
highly malignant
prognosis relates to age and stage at

diagnosis

secrete catecholamines, predominantly

dopamine and its metabolites

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Catecholamine Metabolism

phe

tyr dopa dopamine 3 methoxy tyramine HVA nor adrenaline normetadrenaline HMMA adrenaline metadrenaline

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Neuroblastoma can arise anywhere in the sympathetic nervous system. Primaries most commonly found in adrenal glands

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Typical histological appearance of neuroblastoma Showing rosettes of neoplastic cells

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Urine organic acids as an analytical tool

The intermediary metabolites of most

metabolic pathways are small organic molecules, amenable to detection by ‘organic acid’ analysis

This is the most productive investigation in

respect to detecting disturbances in metabolism, especially inborn

Will throw up surprises from time to time!

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