Symptomatic involvement of the stomach and duodenum as initial presentation of AL amyloidosis

Primary systemic or amyloid light chain (AL) amyloidosis is a multisystem disorder with myriad presentations. Although it can involve the upper gastrointestinal tract in 8% of cases, symptomatic involvement is exceedingly rare. We chronicle here a case of postprandial epigastric pain associated with AL amyloidosis involving the stomach and duodenum. Pathological examination of endoscopic biopsy using Congo red staining confirmed the diagnosis. In order to establish the underlying aetiology of AL amyloidosis, the patient underwent extensive workup. Eventually, she was diagnosed with multiple myeloma based on the standard set of investigations. This paper underscores the importance of clinical suspicion of amyloidosis in patients presenting with non-specific gastrointestinal symptoms and highlights the role of endoscopic biopsy to confirm the amyloid deposition. Since gastrointestinal amyloidosis is a disease with a poor prognosis, early diagnosis and treatment are particularly warranted.

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Overgrowth syndrome in neonates: a rare case series with a review of the literature

We present here two-term neonates presenting with right lower limb hypertrophy, a port-wine stain, acral abnormalities and clubfeet. These neonates had overlapping features of Klippel Trenaunay syndrome and congenital lipomatous overgrowth, vascular malformation, epidermal nevi and scoliosis/skeletal abnormalities. Such overgrowth syndrome has not been previously described in the literature. Both the neonates are doing well and are under regular follow-up.

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Immune thrombocytopenic purpura presenting with spontaneous gingival haemorrhage in pregnancy

Gingival bleeding is a common intraoral finding, typically associated with inflamed tissues and periodontal disease. It is easily provoked by periodontal probing or toothbrushing. Spontaneous gingival bleeding rarely occurs and may be the only sign of systemic bleeding problems such as thrombocytopenia, leukaemia or coagulopathy. In pregnancy, acute onset of thrombocytopenia may occur in systemic disorders such as severe pre-eclampsia, HELLP syndrome (haemolysis, elevated liver enzymes, low platelets) or the acute fatty liver of pregnancy. The diagnosis and management of such conditions may challenge physicians. It requires a systematic approach with a comprehensive history to exclude causes of gingival haemorrhage such as periodontal disease, anticoagulant therapy, maxillofacial trauma, haematological disorders or a bacterial infection. The authors describe a case of immune thrombocytopenic purpura presenting with spontaneous gingival haemorrhage in pregnancy. This case highlights the fact that medical intervention to correct the underlying aberration of haemostasis is necessary for local measures to stop the gingival bleeding successfully.

http://bit.ly/2HgpcRB

Lithium neurotoxicity presenting as dementia with therapeutic serum lithium levels

After 25 years of continuous lithium therapy, a woman with moderate intellectual disability and bipolar disorder developed symptoms suggestive of dementia. In fact, she had developed lithium neurotoxicity, but this was overlooked for 18 months as serial lithium levels were in the therapeutic range.

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Resolution of asthmatic symptoms following successful endoscopic resection of tracheal mucoepidermoid carcinoma

Mucoepidermoid carcinoma (MEC) is a rare tumour of the trachea accounting for up to 0.2% of reported primary lung malignancy. We report a case of a 54-year-old man, ex-smoker, whose presentation mimicked adult onset asthma with cough and wheezing, which did not respond to conventional treatment. He had occasional haemoptysis and weight loss in which CT scan performed for malignancy screening showed a protruding mass in the distal trachea causing endobronchial obstruction. Bronchoscopic intervention was performed to relieve the obstruction that resulted in resolution of asthmatic symptoms. Histological diagnosis confirmed MEC. This case emphasised the importance of a high index of suspicion in an unusual presentation of a common disease and the pivotal role of bronchoscopic intervention in malignant central airway obstruction.

http://bit.ly/2HgpaJt

Solid papillary thyroid carcinoma with Hashimotos thyroiditis: description of a further case with challenging cytological features

Solid papillary thyroid carcinoma (SV-PTC) is a rare variant which is mainly observed in young patients with a history of exposure to ionising radiations. Neoplasms belonging to such category generally carry RET-PTC (REarranged during Transfection- Papillary Thyroid Carcinoma) fusions and seem to have a slightly worse prognosis with respect to classical and follicular variants of papillary thyroid carcinoma (PTC), though consistent prognostic and survival data are scarce. SV-PTC should be differentiated from trabecular-insular poorly differentiated thyroid carcinomas, which occur in a different age group and carry a dismal prognosis. These latter tumours do not show the typical nuclear features of PTC and show tumour necrosis with an high mitotic activity. In this report a further case of SV-PTC is described which was associated to Hashimoto's thyroiditis, a finding never described in the cytological literature up to now for SV-PTC; this association created further differential diagnostic problems. The neoplasm displayed RET-PTC1 fusion.

http://bit.ly/2RYQvnE

Fatal case of necrotising fasciitis due to Vibrio vulnificus in a patient with alcoholic liver disease and diabetes mellitus

Vibrio vulnificus is a halophilic Vibrio found globally. They are thought to be normal microbiome in the estuaries along the coasts associated with seawater and seashells. Infection usually results from consumption of raw oysters or shellfish or exposure of broken skin or open wounds to contaminated salt or brackish water. Clinical manifestations range from gastroenteritis to skin and subcutaneous infection and primary sepsis. Pathogen has the ability to cause infections with significant mortality in high-risk populations, including patients with chronic liver disease, immunodeficiency, diabetes mellitus and iron storage disorders. There is often a lack of clinical suspicion in cases due to Vibrio vulnificus leading to delay in treatment and subsequent mortality. Herein we report a case of necrotising fasciitis in a diabetic patient with alcoholic liver disease caused by Vibrio vulnificus which ended fatally.

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