ABSTRACT
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder which typically manifests with muscle weakness. However, despite late-onset MADD being treatable, it is often misdiagnosed, due in part to the heterogeneity of presentations. We report a case of late-onset MADD manifesting first as a sensory neuropathy before progressing to myopathic symptoms and acute metabolic decompensation. Early diagnostic workup with acylcarnitine profiling and organic acid analysis was critical in patient outcome; metabolic decompensation and myopathic symptoms were completely reversed with riboflavin supplementation and dietary modification, although sensory neuropathy persisted. Clinical consideration of MADD as part of the differential diagnosis of neuropathy with myopathy is crucial for a timely diagnosis and treatment of MADD.
Subject(s)
Multiple Acyl Coenzyme A Dehydrogenase Deficiency , Peripheral Nervous System Diseases , Humans , Acyl-CoA Dehydrogenase , Mutation , Electron-Transferring Flavoproteins/genetics , Peripheral Nervous System Diseases/drug therapy , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/complications , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/diagnosis , Multiple Acyl Coenzyme A Dehydrogenase Deficiency/drug therapy , Riboflavin/therapeutic use , Rare Diseases/drug therapyABSTRACT
Sarcoidosis is a multisystem disorder, characterised histologically by the presence of non-caseating epithelioid granulomas with exclusion of other granulomatous diseases. While the lungs and lymph nodes are affected in 90%, approximately 5% of patients have neurological involvement. The clinical manifestations of neurosarcoidosis (NS) are diverse, making diagnosis especially difficult in patients without known systemic disease. Hydrocephalus occurs in only 9% of patients with NS and although uncommon, is an important manifestation because it is associated with high morbidity and mortality. We report two cases of NS presenting with hydrocephalus, one as the first presentation of sarcoidosis and one in a patient with known multisystem sarcoidosis. The patient without systemic sarcoidosis posed the greater diagnostic challenge and followed a protracted course with multiple surgical interventions, progression of central nervous system inflammation and significant physical disability.
Subject(s)
Central Nervous System Diseases/diagnosis , Hydrocephalus/diagnosis , Sarcoidosis/diagnosis , Adult , Central Nervous System Diseases/complications , Diagnosis, Differential , Female , Humans , Hydrocephalus/etiology , Male , Middle Aged , Sarcoidosis/complicationsABSTRACT
This is a case of an 85-year-old woman whom was admitted with otalgia and an abducens nerve palsy alongside a Pseudomonas otitis externa; she was presumed to have malignant otitis externa. However, despite optimum treatment and resolution of her otitis externa, she went on to develop an ipsilateral facial nerve palsy and sensorineural hearing loss. After further investigation, it was discovered that varicella-zoster meningitis was causing her polyneuropathy. She eventually responded to antivirals and steroids and, at follow-up, her sixth and seventh cranial nerve palsies had completely resolved, though a hearing deficit remained. This case highlights the importance of keeping a diagnosis under review, with the help of the multidisciplinary team, when the clinical course is not progressing as expected.
