ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2017) 52 P35 | DOI: 10.1530/endoabs.52.P35

A family of SDHB mutation and paraganglioma Alam K, Owen D, Ganatra R, Nakas A, Lloyd D, Levy MJ university hospitals of Leicester NHS trust

Kazi Alam, Debbie Owen, Rakesh Ganatra, Apostolos Nakas, David Lloyd & Miles Levy

University Hospitals Leicester NHS Trust, Leicester, UK.

Case presentations: Case 1: The index case is a 10 year old girl who presented episodic symptoms of feeling unwell, unexplained headache, seizure, vomiting and dehydration over a period of 8 months. She was subsequently found to have systemic hypertension which led to further investigations revealing raised plasma noradrenaline of 32 and 103.7 (NR 0–5 nmol/). US abdomen suggested bilateral pheochromocytoma but an MIBG showed unilateral left sided increased uptake. She underwent a successful laparoscopic adrenalectomy with clinical and biochemical remission.

Case 2: Cascade testing revealed a positive SDHB mutation in her 55 year old paternal uncle. He had been investigated by cardiology for intermittent chest pain, palpitations and sweating. Investigation showed persistently elevated plasma 3-Methoxytyramine (3-MT) level (561.6/796.5/540.5; NR 0–180 pmol/l) and urine at 6.86/6.51/3.94 (NR 0–2.3 umol/24 hr. MRI head /neck /abdomen and MIBG were unremarkable, and CT chest showed indeterminate nodule. Subsequent 18F-FDG-PET showed an intensely PET avid lesion. He underwent surgical resection and histology confirmed an intra-thoracic paraganglioma.

Case 3: The 17 year old daughter of the above patient also had the SDHB mutation but was completely asymptomatic. She had mildly raised urinary metadrenaline at 3.04 (NR 0–2.7 umol/24 hr) and plasma metanephrine at 1539.4 (0–1180 pmol/l) but normal 3-MT levels. MRI thorax/abdomen was normal but 18F-FDG-PET showed an intensely PET avid paraganglioma between the caudate lobe of liver and inferior vena cava.

Discussion: These cases demonstrate paragangliomas can show no or minimally positive symptoms or biochemistry and imaging plays a key role in surveillance. Interestingly all three family members were positive for three different metabolites associated with SDHB mutation. These cases demonstrated very intense uptake on 18F-FDG-PET, highlighting that functional imaging plays an important role in this condition.

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