A novel succinate dehydrogenase type B mutation in an Iranian family. Its genetic and clinical evaluation

Ali A. Ghazi, Ali Mosaddegh Khah, Fereshteh Kamani, Khandan Zare, Alireza Sadeghipour, Mehdi Hedayati, Marjan Zarif Yeganeh, Treena Cranston, Ashley Grossman

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Succinate Dehydrogenase-B (SDH-B) gene mutations constitute one of the most frequent forms of hereditary paragangliomas (PGL). Genetic study is advised in all cases for the evaluation of tumour behaviour, the selection of optimal management and the surveillance of the first degree relative …

Phaeochromocytoma crisis presenting with profound hypoglycaemia and subsequent hypertension

Sarah Frankton, Suhail Baithun, Ehab Husain, Katherine Davis, Ashley B. Grossman

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A patient was presented with four days of vomiting, abdominal pain and sweating. At presentation the Capillary Blood Glucose (CBG) was 1.7 mmol/L, the Blood Pressure (BP) was 182/102 mmHg, and the pulse 100 bpm. On examination, he was sweaty, pale and cold. The initial differential diagnosis was hypoglycaemia secondary to insulin abuse, hypoadrenalism or insulinoma …

Familial paraganglioma: A novel presentation of a case and response to therapy with radiolabelled MIBG

Justin K. Lawrence, Eamonn R. Maher, Richard Sheaves, Ashley B. Grossman

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Phaeochromocytomas (PC) and paragangliomas are disorders of the sympatho-adrenomedullary system. They are chromaffin-containing neuroendocrine tumors of neural crest origin that contain catecholamine-secreting granules: they arise from either the adrenal medulla (phaeochromocytomas) or from extra-adrenal neural crest derivatives e.g. the sympathetic chain (paragangliomas)…