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Background/Aims Myopathies due to inborn errors of metabolism can be difficult to differentiate from inflammatory myopathies. Careful history, examination and laboratory tests are required to establish the diagnosis. We present a case of Riboflavin Transport Deficiency (Brown-Vialetto-Van Laere syndrome) masquerading as an inflammatory myopathy. Methods A 37-year-old lady presented with severe proximal muscle weakness. She had background of sensory neuropathy and chronic anaemia. Notably, her sister had a history of similar symptoms. Creatine Kinase (CK) was 360 IU/L and lactate dehydrogenase (LDH) was 1700 IU/L. Inflammatory markers were normal. The Ro52 antibody was weakly positive. Electromyography showed evidence of a sensory neuropathy with myopathic features. There was symmetrical fatty infiltration and atrophy of the thigh muscles on magnetic resonance imaging (MRI). Positron emission tomography (PET-CT) scan showed widespread intense uptake in skeletal muscle groups. She was given 3 pulses of IV methyprednisolone followed by oral prednisolone which did not provide clinical benefit. Intravenous immune globulin was given when she developed bulbar weakness, with difficulty swallowing and breathing. She required non-invasive ventilation and nasogastric feed. There were necrotic and regenerative muscle fibres on the muscle biopsy, in keeping with rhabdomyolysis. Electron microscopy showed abundant lipid accumulation, suggestive of a metabolic disorder. Urinary organic acids were raised, triggering an acylcarnitines blood spot test, which were increased. This was compatible with riboflavin transport 'Brown-Vialetto-Van-Laere syndrome'. Riboflavin 500mg TDS was started resulting in significant clinical improvement. Prednisolone was weaned, genetic testing sent, and she was transferred for neurorehabilitation. Results Riboflavin Transport Deficiency (Brown-Vialetto-Van Laere syndrome) is an autosomal recessive neurodegenerative genetic disorder. It affects females and males equally. Symptoms can appear in infants as well as adults. These include hearing and visual loss, bulbar palsy leading to dysphagia and speech problems. Paralysis of diaphragm may cause breathing difficulty. Initially it affects the proximal muscles and then generalized muscle weakness. Molecular genetic testing is required to confirm diagnosis. Patients may have abnormal plasma levels of flavin or acylcarnitine. Acylcarnitines are biological intermediates, used in the diagnosis of fatty acid oxidation disorders. Treatment includes riboflavin supplementation and supportive measures. Response to treatment is variable. Conclusion This lady was initially managed as inflammatory myopathy but did not respond to high dose methylprednisolone. There were atypical features including normal inflammatory markers, MRI thighs showing predominantly fatty infiltration and muscle atrophy and the muscle biopsy with abundant lipid accumulation suggestive of a metabolic disorder. We are awaiting full results of genetic testing. This case is a reminder of the importance of tissue diagnosis and reassessing the initial diagnosis if the clinical picture changes or patients do not respond as expected to treatment. Disclosure M. Malik: None. A. Mason: None. B. Davidson: None. J. Furby: None.

A 37 year-old female presented with 5-weeks of neck pain, proximal weakness and dysphonia. Exami- nation showed facial rash, proximal weakness, areflexia and distal sensory loss. She had a 6-year history of sensory neuropathy, treated functional B12 deficiency and fibromyalgia. Serum showed elevated CK (360U/L) and borderline positive Anti-Ro52. Electrophysiology showed worsening sensory neuropathy and new myopathic features. She deteriorated soon after receiving intravenous corticosteroids and immu- noglobulins. CK increased to 1796 U/L and she developed bulbar failure requiring respiratory support.Muscle biopsy electron microscopy showed lipid accumulation suggesting a metabolic disorder. Serum acylcarnitines and urinary organic acids were abnormal, consistent with Riboflavin Transporter Deficiency (RTD). Riboflavin 500mg three times daily was initiated, urinary organic acids normalised and the patient regained full-power with neurorehabilitation.RTD is a rare cause of peripheral and cranial neuropathy, with autosomal recessive inheritance due to variants in riboflavin transporter genes and onset up to young adulthood. Mutation carrier frequencies should generate 70 new cases per year worldwide, though only ~80 case-reports exist in the literature suggesting under-recognition. Riboflavin is a precursor for coenzymes important for carbohydrate, amino acid and lipid metabolism. Untreated, the disorder is fatal, though the majority of patients improve with Riboflavin supplementation.elena.purcaru@gmail.com

Guillain-Barre syndrome (GBS) is a heterogeneous disorder causing muscle weakness, sensory change, dysautonomia and often involving cranial neuropathies. An immune response to recent infection or to triggers such as vaccines, is thought to be responsible. Immunological cross-reaction with the peripheral nerve causes subsequent demyelinating or axonal damage. GBS is a continuous spectrum of disease rather than discrete phenotypes. Recognised GBS variants in order of frequency are: (1) classical; (2) Miller Fisher syndrome; (3) pharyngeal-cervical-brachial; (4) bifacial weakness with paraesthesia of limbs (BFP); and (5) paraparetic.1 At the time of publication, no reports of BFP variant GBS post COVID-19 vaccination have been described. We report five remarkably similar cases of BFP post-Vaxzevria. All of them presented to Wessex hospitals: Queen Alexandra Hospital, Portsmouth; Southampton General Hospital; Poole Hospital; and St Mary’s Hospital, Isle of Wight, within a 3-month period. A 66-year-old man developed interscapular back and leg pain, particularly severe at night, 1 week after his first dose of Vaxzevria. He had paraesthesia of both hands and feet and was unsteady. Ten days later, he developed bilateral facial weakness with numbness of the tongue and mouth. Examination revealed marked bilateral lower motor neuron (LMN) facial weakness. Tone, power and reflexes were normal in the limbs except absent right ankle jerk. Light touch and pinprick sensation was reduced symmetrically in both lower limbs to the knee and vibration to the ankles. His gait was ataxic. A 43-year-old man …