Abstract
<strong>Background:</strong> Specific phenomenology and pattern of involvement in movement disorders point toward a probable clinical diagnosis. For example, forehead chorea usually suggests Huntington’s disease; feeding dystonia suggests neuroacanthocytosis and risus sardonicus is commonly seen in Wilson’s disease. Dystonic opisthotonus has been described as a characteristic feature of neurodegeneration with brain iron accumulation (NBIA) related to PANK2 and PLA2G6 mutations. <strong>Case report:</strong> We describe two additional patients in their 30s with severe extensor truncal dystonia causing opisthotonic posturing in whom evaluation revealed the diagnosis of NBIA confirmed by genetic testing. <strong>Discussion:</strong> Dystonic opisthotonus may be more common in NBIA than it is reported and its presence especially in a young patient should alert the neurologists to a possibility of probable NBIA.
Highlights
Phenomenology or pattern of movement helps in approaching and narrowing the differential diagnosis in a patient with movement disorder
We report two additional patients, both in their 30s, who presented with action-induced dystonic opisthotonus and clinical exome sequencing clinched the diagnosis of neurodegeneration with brain iron accumulation (NBIA)
We describe two patients who presented with severe extensor truncal dystonia and genetic testing clinched the diagnosis of NBIA
Summary
Phenomenology or pattern of movement helps in approaching and narrowing the differential diagnosis in a patient with movement disorder. Forehead chorea usually suggests Huntington’s disease; feeding dystonia is characteristically seen in neuroacanthocytosis.[1,2] oromandibular dystonia is usually seen in neuroleptic-induced tardive dystonias, neuroacanthocytosis, Wilson’s disease, and Lesch–Nyhan syndrome.[3,4,5,6] Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive neurodegenerative disorders characterized by extrapyramidal involvement and evidence of iron accumulation in the brain.[7] Pantothenate kinase-associated neurodegeneration (PANK) accounts for 50% cases of NBIA.[7] Dystonic opisthotonus as a manifestation of NBIA was first described by Ludo Von Bogaert in 1936.8 Stamelou et al reported that four of eight patients of theirs with NBIA had opisthotonus and all of these had either. PANK2 or PLA2G6 mutations.[9] We report two additional patients, both in their 30s, who presented with action-induced dystonic opisthotonus and clinical exome sequencing clinched the diagnosis of NBIA
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