Hypocupraemia-induced anaemia, sensory ataxia and cognitive impairment secondary to zinc-containing dental adhesive

A 67-year-old man presented with 5 months of worsening memory impairment and sensory gait ataxia on the background of symptomatic anaemia. He experienced falls, agitation and became socially withdrawn over 3 weeks, resulting in hospital admission. On examination, he had sensory gait ataxia consistent with a dorsal column syndrome. He scored 13/30 on the Montreal Cognitive Assessment. Serum analysis showed normocytic anaemia and leucopenia, severe hypocupraemia, reduced caeruloplasmin and normal zinc levels. Overuse of zinc-containing denture cream was the cause of excess zinc ingestion and resultant copper deficiency, leading to blood dyscrasia and myelopathy. The cream was withdrawn and intravenous and then oral copper supplementation was implemented. Direct questions with regard to excess zinc in the diet and serological testing of copper and zinc should be considered in any patient with a dorsal column syndrome, particularly with concurrent anaemia. Copper deficiency may also have a role in exacerbating pre-existing cognitive impairment.

Diagnostic conundrum: an elusive bleeding source in patient with recurrent gastrointestinal bleeding

Over a 6-month period, a 69-year-old woman presented with recurrent symptomatic anaemia, melaena and haematochezia. Extensive investigations were carried out, including CT of the abdomen and pelvis, oesophagogastroduodenoscopy, colonoscopy, two capsule endoscopies and two CT angiograms. The lack of active bleeding at the time of both CT angiograms meant a diagnosis was only made following retrospective examination of images by interventional radiology once fresh ampullary bleeding was identified on capsule endoscopy. The unifying diagnosis was haemosuccus pancreaticus given the combination of the left gastric artery pseudoaneurysm, fresh bleeding identified from ampulla and the patient’s history of chronic alcohol-related pancreatitis. Subsequent coil embolisation was performed to an optimal result with no recurrence of symptoms to date.

Haematological symptoms

The management of symptomatic anaemia, minor bleeding, and other rarer haematological symptoms in the palliative phase illustrates very well the challenging decisions that face professionals who are working with dying children. On the one hand, modern medical interventions have the capacity to relieve some of the symptoms that haematological abnormalities can cause. On the other hand, the interventions themselves carry morbidity and can cause not only symptoms related to physical reactions, but also often emotional and psychological issues related to otherwise avoidable hospital attendance. The ethical issues involved in subjecting a child—whose voice is often unheard—to treatments just because they are available should also be carefully considered. The best clinical decision can only be made by considering the needs of the individual child and their family, giving appropriate weight to the risks and potential benefits of giving an intervention, both physical and otherwise, and the risks and potential benefits of withholding it. In this respect, management of haematological symptoms is typical of thoughtful and skilled childhood palliative care in general.

Delayed presentation of postcaesarean section vesicouterine fistula repaired robotically

A premenopausal patient in her late forties presented with a 15-year history of urinary incontinence starting shortly after a caesarean section performed for her fourth delivery and more recently associated episodic light haematuria and passage of clots per vagina. The haematuria was intermittent over several months and associated with per-vaginal bleeding. She had symptomatic anaemia. Flexible cystoscopy and MRI showed a vesicouterine fistula. She underwent a robotic-assisted hysterectomy and multi-layered repair of the bladder with omental interposition. She remained in the hospital for 4 days, though recovered well and underwent catheter removal at 14 days following a normal cystogram. At 3 months, she was well with no incontinence or urinary symptoms. This case demonstrates the need for vigilance in assessing patients with persistent incontinence, particularly in the context of prior caesarean section. It highlights the feasibility of robotic surgery for correcting these defects in a society where minimally invasive surgery is becoming the norm, and cosmesis is a priority for patients.

Treatment of tongue telangiectasia in a patient with hereditary haemorrhagic telangiectasia

A 61-year-old Caucasian woman presented to an outpatient otolaryngology clinic with increased bleeding from a dorsal tongue telangiectasia for 3 weeks. Her history was significant for hereditary haemorrhagic telangiectasia (HHT), a rare condition that causes vascular dysplasia, and recent symptomatic anaemia requiring blood transfusions. After failing medical management with topical haemostatic agents, she was offered and underwent surgical intervention to remove the tongue telangiectasia with duel therapy potassium titanyl phosphate (KTP) laser coblation and bevacizumab injections. A team of otolaryngologists removed the lesion without complications, and the patient denied bleeding, had minimal pain, and endorsed increased quality of life postoperatively. Tongue telangiectasias can cause life-threatening bleeding in some patients with HHT, and no surgical management guidelines exist to treat them. This case demonstrates the efficacy of KTP laser followed by bevacizumab injections in treating tongue telangiectasias in a patient with HHT.

Polycythaemia following treatment of lymphoplasmacytic lymphoma

A 61-year-old man presented to the department of clinical haematology in February 2016 with symptomatic anaemia, generalised lymphadenopathy and hepatomegaly. Routine investigations showed severe anaemia with the presence of lymphoplasmacytoid cells in the peripheral smear, and bone marrow examination with IHC and serum protein electrophoresis confirmed diagnosis of lymphoplasmacytic lymphoma. The patient received supportive transfusion therapy and combination chemotherapy. After VI cycles, the patient had a complete haematological response with marrow in remission. Maintenance rituximab was planned every 3 months for 2 years. At the time of first dose of maintenance rituximab, his haemoglobin (Hb) was 189 g/L with low normal erythropoietin level. During the last 3 years follow-up, his Hb ranged between 16.5 and 20.1 g/dL. All causes of secondary polycythaemia were ruled out. Workup for polycythAemia vera (PV), including JAK-2 and bone marrow, was not suggestive of PV. We labelled it as a case of polycythaemia due to undetermined aetiology.

A Nearly Missed Hashimoto’s Thyroiditis: A Case of Refractory Anaemia

This is a case of a 68-year-old man who was diagnosed late with Hashimoto’s thyroiditis following a few admissions for symptomatic anaemia. Although hypothyroidism is common among the elderly, the classic symptoms are less likely to be evident and anaemia can be the first sign of hypothyroidism. This patient had multiple comorbidities including ischaemic heart disease, diabetes and chronic kidney disease which might have contributed to the delay in finding the underlying cause of his anaemia. He initially presented with symptomatic anaemia and received blood transfusions and iron supplementation. On subsequent follow up, his anaemia failed to improve. He was then referred to our primary care clinic. Hashimoto’s thyroiditis was diagnosed based on his clinical features, thyroid function test results and antithyroid peroxidase level. This case highlights the importance of determining the cause of anaemia as his haemoglobin level improved significantly after thyroxine was commenced. It also serves as a reminder that hypothyroidism should be considered in patients with anaemia, especially in those with uncertain aetiology.

Acquired pyroglutamic acidosis due to long-term dicloxacillin and paracetamol use

An 85-year-old man with a background of transfusion-dependent chronic myelomonocytic leukaemia and chronic kidney disease stage III presented with symptomatic anaemia, acute kidney injury, sepsis and high anion gap metabolic acidosis (HAGMA). Initial treatment with intravenous antibiotics and blood transfusion was complicated by transfusion-associated circulatory overload, necessitating diuresis and non-invasive ventilation. Despite gradual clinical improvement, the patient’s HAGMA persisted, and no cause was identified on urine testing or renal ultrasound. As the patient was on long-term dicloxacillin for infective endocarditis prophylaxis and regular paracetamol, pyroglutamic acidosis (PGA) (5-oxoproline acidosis) was considered. This was later confirmed with elevated serum levels, and the HAGMA resolved following cessation of these medications. Although considered an uncommon cause of HAGMA, PGA is likely also under-recognised, and to our knowledge, this may be the second reported case in the context of dicloxacillin.

A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency

β-thalassaemia is one of the most prevalent autosomal disorders worldwide. Mutations/deletions in globin gene underlie deficiencies in Haemoglobin (Hb) production, which can interfere with oxygen delivery by Hb, resulting in thalassaemias causing anaemias with a wide range of disease severity. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic abnormality resulting in inadequate amount of G6PD in the Red Blood Cells (RBCs). In patients with G6PD deficiency, the reduced or absent activity of the enzyme in RBCs causes premature haemolysis and symptomatic anaemia. The marked oxidative stress caused by homozygous β-thalassaemia is apparently incompatible with G6PD deficiency. Here, a rare case of six-month-old male child is described who presented with severe pallor hepato-splenomegaly and these two conditions co-existed in this patient.

Progressive myeloneuropathy with symptomatic anaemia

Hypocupremia is a rare and under-recognised cause of bone marrow dysplasia and myeloneuropathy. A 47-year-old Caucasian woman had progressive ascending peripheral neuropathy and gait ataxia over 3 months and fatigue, dyspnoea and unintentional weight loss over 8 months. She had profound macrocytic anaemia and neutropenia. Initial workup included normal serum vitamin B12. Bone marrow biopsy was suggestive of copper deficiency. Serum copper levels were later confirmed to be undetectable. The patient received oral copper repletion which resulted in complete normalisation of haematological abnormalities 16 weeks later. However, neurological deficits persisted. This case describes a delayed diagnosis of hypocupremia as initially suggested through invasive testing. Associating myeloneuropathy with cytopenia is imperative for accurate and prompt diagnosis of hypocupremia, which can be confirmed by serum analysis alone. Developing an accurate differential diagnosis can help prevent unnecessary procedures. Furthermore, initiating prompt copper repletion prevents further neurological impairment. Neurological deficits are often irreversible.