Amanda M Godbolt

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Inherited prion diseases are caused by mutations in the gene which codes for prion protein (PrP), leading to proliferation of abnormal PrP isomers in the brain and neurodegeneration; they include Gerstmann–Sträussler–Scheinker disease (GSS), fatal familial insomnia (FFI) and familial Creutzfeldt–Jakob disease (fCJD). We studied two patients with symptomatic(More)
A 10-year-old girl with cutaneous, oral and gastrointestinal vascular lesions was referred for consideration of laser treatment of her skin lesions. She was noted to have multiple venous malformations predominantly affecting the hands and feet, some of which had been present from birth. Her right hand was deformed by multiple venous malformations, and(More)
Variant Creutzfeldt-Jakob disease (vCJD) is a fatal neurodegerative disorder. Clinical diagnosis is difficult in the early stages as the disease often presents with non-specific psychiatric and neurological symptoms. To investigate the diagnostic potential of quantitative short TE in vivo MRS, and the nature and anatomical distribution of biochemical(More)
A 27-year-old man, immunosuppressed from recent chemotherapy for metastatic Ewing's sarcoma, presented with a 1-week history of a painful, pruritic, papulovesicular eruption on the hands and feet. A diagnosis of hand, foot and mouth disease was made based on histology, detection of Enterovirus ribonucleic acid by polymerase chain reaction on a swab from a(More)
We present three members of a Queensland family with clinical and histopathological features consistent with Birt-Hogg-Dubé syndrome. Two of the three family members were able to be screened for associated disorders. The mother of the family was found to have a solitary colonic polyp, a large ovarian cyst and two chorioretinal scars. No associated disorders(More)
Nonsynchronized segmented heterochromia in black scalp hair is a rarely reported entity, the only previous report being described in association with iron deficiency anaemia. A 14-year-old girl presented with a 2-year history of nonsynchronized segmented heterochromia. She was otherwise well and her serum iron, copper, zinc and protein levels were all(More)
A 61-year-old man was treated with imiquimod 5% cream for superficial basal cell carcinoma, five times per week for 13 weeks. This resulted in vitiligo-like depigmentation and poliosis in the area of treatment. This rare side-effect has been noted in previous case reports of imiquimod treatment for both genital warts and superficial basal cell carcinoma.(More)
A 76-year-old man with a medical history of malignant melanoma and non-melanoma skin cancer presented to the dermatologist for his 6-monthly skin examination. He was of English descent with type II skin and was raised in Queensland. He reported no lesions of concern. The examination revealed a 2-cm diameter pigmented lesion in his tattoo on his right upper(More)
Keratoacanthoma is a unique clinicopathological entity, despite a recent trend to regard it as a variant of squamous cell carcinoma. The occurrence of perineural invasion is an uncommon phenomenon in keratoacanthomas, with a predilection for lesions on the face. We studied a series of 40 cases of keratoacanthoma in which perineural invasion occurred. Of the(More)
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