Vitamin B12 deficiency presenting as neck pain and cervical radiculopathy.

Vitamin B12 is required for the formation of haematopoietic cells and the synthesis of myelin. Deficiency typically presents with fatigue and megaloblastic anaemia. Prolonged deficiency can cause neurological symptoms such as paresthesia, which can progress to subacute combined degeneration of the spinal cord. We describe an unusual presentation of B12 deficiency in a young man who was initially diagnosed and treated for cervical radiculopathy. This case highlights the challenges of diagnosing B12 deficiency in patients with neurologic but without haematologic, abnormalities. While the current incidence of B12 deficiency in developed countries is low, cases are likely to rise with the increased adoption of veganism. Clinicians should be aware of the variable presentations of B12 deficiency because delayed diagnosis and treatment increases morbidity and can cause irreversible neurological deficits.

Rare cause of recurrent hypocalcaemia and functional hypoparathyroidism due to hypomagnesaemia caused by TRPM6 gene mutation.

Magnesium is essential for the functioning and release of parathyroid hormone. Therefore, its deficiency can present as functional hypoparathyroidism. This case report describes a rare inherited disorder called congenital hypomagnesaemia with secondary hypocalcaemia due to TRPM6 gene mutation. This disease clinically and biochemically mimics hypoparathyroidism. However, unlike hypoparathyroidism, it can be treated only by long-term oral magnesium supplements. The patient presented to us with recurrent hypocalcaemic convulsions. The laboratory picture in each admission was similar to that of hypoparathyroidism. However, the hypocalcaemia persisted, and it was noticed to be associated with persistent hypomagnesaemia. A defect in the tubular magnesium reabsorption was postulated and a genetic analysis of the patient was done, which revealed a TRPM6 mutation causing hypomagnesaemia by excessive renal excretion of magnesium. The child responded well to oral magnesium supplements and is currently developmentally appropriate for her age and thriving well.

Atypical Wernicke's encephalopathy without mental status changes following bariatric surgery in an adolescent patient.

Morbid obesity is a systemic disease which can result in chronic complications, including hypertension, diabetes mellitus, depression, osteoarthritis and low self-esteem in the adolescent population.Bariatric surgery can be indicated to treat more severe forms of obesity, but these procedures are not without long-term risks. Therefore, adequate preoperative and postoperative care, which includes preoperative psychosocial evaluation for compliance, ongoing nutrition counselling and vitamin and micronutrient supplementation, is required for all patients, especially adolescent patients, who generally may not comply with medical therapies and/or be able to developmentally fully appreciate or comprehend the health consequences of their behaviours, prior to as well as after bariatric surgery to prevent complications.Thiamine pyrophosphate, an active form of thiamine (also known as vitamin B1, a water-soluble vitamin), which functions as a coenzyme in glucose and energy metabolism, is one such vitamin that requires supplementation postoperatively. It is mandatory for glucose to be administered concomitantly with thiamine, as glucose alone can precipitate Wernicke's encephalopathy (WE) in thiamine-deficient individuals. WE is a medical emergency, with a mortality rate of up to 20%. WE is best understood as a classic triad of mental confusion, gait ataxia and eye movement abnormalities, and atypical WE or Wernicke's syndrome (WS) is seen when the classic triad is not present. Cases that meet some, but do not necessarily meet all three criteria, are referred to as atypical WE or WS which can lead to delayed diagnosis. Atypical WE has an incidence of 19% which can lead to misdiagnosis of a preventable medical emergency with fatal complications.The following case reviews the consequences of post-bariatric thiamine supplementation therapy non-adherence and resulting in a deficiency in an adolescent patient.

Scurvy presenting as difficulty in walking in a child.

Scurvy, a disease caused by ascorbic acid (vitamin C) deficiency, is a rare disease in the modern world. We report a case of a boy in middle childhood, with a background of autism, presenting bed-bound due to progressive bilateral lower limb pain, with concomitant rashes, bleeding gums and worsening lethargy. Detailed dietary history revealed a severely restricted diet. Physical examination showed bilateral lower limb ecchymoses, perifollicular hemorrhages, perifollicular hyperkeratosis and cockscrew hairs which are pathognomonic features of scurvy. A low serum ascorbic acid level confirmed the diagnosis. Therapy with oral vitamin C supplement and rehabilitation with multidisciplinary care was successful, with complete resolution of symptoms. This case emphasises the importance of thorough dietary evaluation in children with autism and food selectivity presenting with non-specific symptoms. Physician awareness of nutritional deficiencies avoids unnecessary extensive investigations and sub-specialty referrals and translates to savings in medical expenses.

Immune-mediated herb-induced liver injury: a potential association with herbal artemisinin use as supported by the updated RUCAM.

Immune-mediated herb-induced liver injury (HILI) is an acute or chronic inflammatory liver disease precipitated by a hepatotoxic agent with a presentation similar to acute autoimmune hepatitis. It is distinguished in clinical course from true autoimmune hepatitis by remission on drug discontinuation and immunosuppressive treatment. We report a potential case of immune-mediated HILI associated with artemisinin use, an herb underlying first-line malarial treatments, in a woman undergoing radiotherapy for right-sided pelvic sarcoma. A probable association in this case is supported by causality assessment using the updated Roussel Uclaf Causality Assessment Method (score of 6). She achieved clinical improvement with a course of oral corticosteroids and remained stable without relapse following discontinuation. Increased awareness of this complication is imperative, as literature to date only documents direct hepatocellular and cholestatic liver injury from artemisinin use, and should augment clinician counsel regarding complementary medicine administration, especially in high-risk individuals like those with cancer.

Scurvy-induced pulmonary arterial hypertension.

Pulmonary arterial hypertension (PAH) is a progressive disease of the pulmonary vasculature that results in precapillary pulmonary hypertension. PAH is caused by a group of clinical conditions involving multiple organ systems. Several cases have been reported in the literature demonstrating an association between vitamin C deficiency and PAH. Low endothelial nitric oxide levels in the pulmonary vasculature, combined with the inappropriate activation of hypoxia-inducible transcription factors, seen in patients with ascorbic acid deficiency, are believed to be the main contributors to the pathogenesis of pulmonary vasculopathy and the exaggerated pulmonary vasoconstrictive response seen in patients with scurvy-induced PAH. Vitamin C supplementation is considered the definitive treatment.

Severe hypocalcaemia episodes in a patient of primary hypoparathyroidism precipitated by underlying stress due to haemophagocytic lymphohistiocytosis (HLH) secondary to pulmonary tuberculosis.

A man in his 20s who had previously experienced multiple episodes of transient loss of consciousness, majorly attributable to the seizures, presented with a 1-month history of increased seizure frequency, high-grade fever and weight loss. Clinically, he had postural instability, bradykinesia and symmetrical cogwheel rigidity. His investigations revealed hypocalcaemia, hyperphosphataemia, inappropriately normal intact parathyroid hormone, metabolic alkalosis, normomagnesemic magnesium depletion, and increased plasma renin activity and serum aldosterone concentration. CT scan of the brain revealed symmetrical calcification of the basal ganglia. The patient had primary hypoparathyroidism (HP). A similar presentation of his brother indicated a genetic cause, most likely autosomal dominant hypocalcaemia with Bartter's syndrome type 5. The patient's fever was caused by underlying haemophagocytic lymphohistiocytosis secondary to pulmonary tuberculosis, which triggered acute episodes of hypocalcaemia. This case represents a complex interplay of a multifaceted relationship between primary HP, vitamin D deficiency and an acute stressor.

Vitamin B12 deficiency presenting with a pancytopenia in pregnancy.

Vitamin B12 deficiency is a significant public health problem globally. Although it is a well-known cause of macrocytic anaemia and in advanced cases, pancytopenia, there remains a relative paucity of cases reported in pregnancy. It is associated with an increased risk of pregnancy complications and adverse birth outcomes such as neural tube defects, preterm birth, low birth weight, neurological sequelae and intrauterine death. It has a predilection for individuals aged >60 years. It has been implicated in a spectrum of neuropsychiatric disorders and it may also exert indirect cardiovascular effects. Severe vitamin B12 deficiency may present with haematological abnormalities that mimic thrombotic microangiopathy such as HELLP syndrome (haemolysis, elevated liver enzymes and low platelets) or it may present as pseudothrombotic microangiopathy (Moschcowitz syndrome) characterised by anaemia, thrombocytopenia and schistocytosis. It can also closely mimic thrombotic thrombocytopenia purpura, hence posing a diagnostic challenge to the unwary physician. Serological measurement of vitamin B12 levels confirms the diagnosis. Oral supplementation with vitamin B12 remains a safe and effective treatment. The authors describe the case of a multiparous woman in her late 20s presenting with a plethora of non-specific symptoms at 29+5 weeks' gestation. Her haemoglobin was 45 g/L, platelets 32×109/L, vitamin B12 <150 ng/L and serum folate <2 µg/L. She was not a vegetarian, but her diet lacked nutrition. Following parenteral B12 supplementation, her haematological parameters improved. The pregnancy was carried to term. Due to the plethora of non-specific symptoms, the diagnosis can be challenging to establish. Adverse maternal or fetal outcomes may occur. Folic acid supplementation may mask an occult vitamin B12 deficiency and further exacerbate or initiate neurological disease.

Spontaneous haemopericardium due to vitamin K deficiency in an adult patient with cardiofaciocutaneous syndrome.

We present the case of an adult man with cardiofaciocutaneous syndrome, who initially presented to the emergency department with severe abdominal pain and distension, but was diagnosed with cardiac tamponade on CT after distended neck veins and tachycardia were identified on examination. He had emergency pericardial drainage to relieve the haemopericardium and was treated with colchicine. He was further found to be deficient in factors II, VII and X despite not being on warfarin, and was therefore supplemented with vitamin K. This confirms a diagnosis of vitamin K deficiency, likely multifactorial from malabsorption due to chronic intestinal pseudo-obstruction, small bowel obstruction and possibly exacerbated by subsequent ciprofloxacin use for small intestine bacterial overgrowth. This is the first report of spontaneous haemopericardium secondary to vitamin K deficiency in an adult patient not on anticoagulation, and is an important learning point due to the life-threatening progression of the haemopericardium and cardiac tamponade.

Cystic fibrosis associated with Wernicke's encephalopathy in an older adult.

Here we report the first case of an association between cystic fibrosis and Wernicke's encephalopathy. The patient had a history of cystic fibrosis diagnosed in her early 60s associated with pancreatitis and chronic lung disease. She presented with a traumatic hip fracture requiring operative repair. On examination, she was found to have bilateral nystagmus. MRI revealed enhancement of the mammillary bodies. Laboratory results were notable for thiamine deficiency, which in context of the radiographic and physical examination findings, confirmed a diagnosis of Wernicke's encephalopathy. The cause of her low thiamine was thought to be poor dietary intake, weight loss and malabsorption associated with exocrine pancreatic insufficiency in the setting of a history of recurrent pancreatitis. The patient had complete resolution of her symptoms with the initiation of thiamine supplementation and pancreatic enzymes. Although classically associated with fat soluble vitamin deficiencies, there are increasing reports of water-soluble vitamin deficiencies associated with cystic fibrosis.

Pancreatic insufficiency as a complication of type 1 diabetes causing enteric hyperoxaluria in a transplant kidney.

A kidney transplant recipient with a medical history of type 1 diabetes mellitus (T1DM) presents to the clinic with an acute kidney injury (AKI) and diarrhoea. Kidney biopsy found deposition of focal oxalate crystals, and further investigation revealed a raised 24-hour urinary oxalate and reduced faecal elastase. Therefore, we present a case of acute oxalate nephropathy (AON) secondary to enteric hyperoxaluria as a result of pancreatic insufficiency caused by T1DM. T1DM is a common cause of end-stage renal failure and exocrine pancreatic insufficiency. Therefore, AON secondary to enteric hyperoxaluria should be considered in patients with a transplant AKI. Earlier testing of 24-hour urinary oxalate and faecal elastase could generate diagnosis before biopsy results and allow commencement of pancreatic replacement therapy earlier to avoid permanent loss of kidney function.

Scurvy presenting primarily as gingival manifestation in a young child: a diagnostic dilemma.

Vitamin C deficiency, historically known as scurvy, was associated with sailors in the Victorian times, however, a global review in 2020 suggests it still exists in certain at-risk groups.A case is presented of a young non-verbal child with learning difficulties and on a restricted diet, in which the primary symptom was gingival inflammation. It posed a diagnostic dilemma due to the non-specific symptoms, and a delay in the diagnosis, until vitamin C deficiency was confirmed.Gingival inflammation is one of the common findings in vitamin C deficiency and dental professionals may be the first point of contact. The importance of dietary evaluation, identifying and looking for other signs and liaising with the medical colleagues are discussed.This case highlights the role of the dentist in identifying latent cases of vitamin C deficiency and to consider this as a differential diagnosis especially in certain at-risk groups.

Lactobacillus rhamnosus sepsis, endocarditis and septic emboli in a patient with ulcerative colitis taking probiotics.

A man in his 60s presented to the emergency room with fever and fatigue after a 2.5-month course of corticosteroids. His medical history was significant for bioprosthetic aortic valve replacement and moderately severe ulcerative colitis treated with balsalazide and daily lactobacillus-containing probiotics. Initial investigations revealed Lactobacillus rhamnosus bacteraemia without complication. Four days after hospital discharge, the patient experienced acute-onset right-sided paraesthesia and lower-limb paresis. On return to the emergency room, MRI of the brain demonstrated innumerable ring-enhancing lesions with haemorrhagic transformation. Transoesophageal echocardiogram revealed a small mobile density on the bioprosthetic aortic valve, raising the suspicion for L. rhamnosus infective endocarditis with secondary septic emboli to the brain. The patient was subsequently treated with intravenous gentamycin and ampicillin, with transition to indefinite oral amoxicillin suppressive therapy. The current case highlights the potential risk of lactobacilli translocation in an immunosuppressed patient with ulcerative colitis taking probiotics.

Spontaneous haematomas and haematochezia due to vitamin C deficiency in a haemodialysis patient.

A man in his 50s with dialysis-dependent end-stage renal disease, several weeks history of progressive skin bruising and acute-onset gastrointestinal bleeding presented to the emergency department following a syncopal event during routine haemodialysis owing to profound hypotension. He was found to have a severe normocytic, normochromic anaemia requiring several blood transfusions. He followed a diet lacking fruits and vegetables and stopped taking renal multivitamins. All parameters of coagulation were unremarkable, but serum vitamin C level was undetectable, supporting a diagnosis of scurvy. Although typically associated with individuals who are at risk of malnourishment, such as those with alcohol use disorder, malabsorption, and those who experience homelessness, scurvy should be considered in patients receiving renal replacement therapy as vitamin C is removed during haemodialysis.

Scurvy: a rare cause of haemarthrosis.

A male in his 60s with a history of previously treated locally advanced head and neck cancer presented to the emergency department with atraumatic left knee pain and upper and lower extremity ecchymoses that had been present for 3 weeks. His initial laboratory results showed a normocytic anaemia, normal platelet count, slightly abnormal coagulation studies and normal inflammatory markers. Arthrocentesis of the left knee revealed haemarthrosis, and additional laboratory workup found an undetectable serum vitamin C (ascorbic acid) level consistent with scurvy. It was determined that scurvy had predisposed the patient to injury, leading to haemarthrosis. Following vitamin C supplementation, dietary and activity modifications, and acetaminophen as needed, the patient's serum vitamin C level normalised and his left knee pain and swelling improved. Scurvy is a rare cause of haemarthrosis, but it should be recognised in at-risk patients since treatment is effective.

Clonal cytopenia of undetermined significance and atypical Behçet's: the importance of zinc.

Atypical Behçet's is recognised in myelodysplastic syndrome (MDS) cases and is associated with trisomy 8. Clonal cytopenia of undetermined significance (CCUS) is recognised as a precursor to MDS. Our case describes the presentation of atypical Behçet's, in association with CCUS, post a Streptococcal infection. A mutation of a zinc finger RNA spliceosome, ZRSR2, is also described. Our patient initially presented with macrocytic anaemia, together with neutropenia and lymphocytopenia on routine monitoring. Later gastrointestinal symptoms together with oral and anal ulcerations developed. He was treated with oral zinc therapy and had resolution of recurrent oral ulcerations and significant reduction in severity of anal ulcerations. The functional impact of ZRSR2 mutation on spliceosome assembly is yet to be defined, but has been previously reported in CCUS with a clinical phenotype of macrocytic anaemia.

Visual loss and optic neuropathy in a patient with Klinefelter's syndrome, open-angle glaucoma, vitamin B12 (cobalamin) and folate deficiency.

A 54-year-old man with Klinefelter's syndrome presented to the neuro-ophthalmology clinic with progressive painless visual blurring in the right eye over 2 years. He was receiving intramuscular testosterone therapy for hypogonadism and hypromellose for dry eye. Acuity was reduced bilaterally, and the right optic nerve head appeared pale and asymmetrically cupped. Optical coherence tomography revealed loss of retinal nerve fibre layer thickness in the right eye and visual field testing showed a developing right-ring scotoma. Blood tests showed vitamin B12 and folate deficiencies and polycythaemia. The patient was managed with intramuscular hydroxocobalamin, oral folate administration and re-initiation of his glaucoma medication. In Klinefelter's syndrome, signs of comorbid deficiency can be masked by the polycythaemic effect of testosterone therapy. For patients on long-term testosterone therapy, such as those with Klinefelter's syndrome, we recommend baseline ophthalmic examination and assessment, including intraocular pressure measurement, pachymetry, gonioscopy and screening 24-2 visual field testing.

Macro-B12 masking B12 deficiency.

In clinical practice, the finding of an elevated serum B12 concentration is often the consequence of supplementation with B12 in either oral form or injections. Also, elevated serum B12 may be associated with underlying disorders, like liver diseases or a (haematologic) malignancy. Only a few studies have shown that it may also be the consequence of complex formation of B12-vitamin binding proteins with immunoglobulins, the so-called macro-B12 We describe a young woman who previously was diagnosed with B12 deficiency, and in whom, after cessation of B12 injection treatment, neurologic symptoms re-appeared, and despite this, repeatedly elevated serum B12 concentrations above the upper limit of the assay were found. We demonstrated that this was caused by the presence of macro-B12, which not only resulted in erroneous and longstanding elevated serum B12, but also masked her underlying B12 deficiency.