Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA).

Results: Case 1. A 24-year-old male presented with a history of progressive dysphonia and gait difficulty whose sister has also similar symptoms. He was previously diagnosed as retinitis pigmentosa. On neurological examination spasmodic dysphonia, bilateral blepharospasm and bilateral distal upper limb dystonia were observed. Cogwheel rigidity, choreathetoid involuntary movements, postural instability and Romberg sign were detected. Cranial MRI showed the ‘eye of the tiger’ pattern. Molecular genetic analysis resulted in a homozygous missense point mutation in PANK2 gene (c.655G>A homozygous mutation, protein reserve: p.Gly219Ser (NM_153638)) which was reported only in one case. Clonazepam and baclofen was applied as symptomatic treatment. Case 2. A 28-year-old male presented with a 7 month history of rapidly progressive impairment in speech and movement which resulted in immobility within the last 2 months. He was admitted to the emergency unit with generalized tonic clonic seizure. Physical examination revealed hepatomegaly and severe joint contractures and Neurological examination; severe dysarthria and general dystonia which led to limitation of the movements. Laboratory examination, including peripheral blood smear was unremarkable. Kaiser-Fleischer ring or retinal pigmentation was not detected. MRI showed bilateral diffuse iron accumulation on basal ganglia. Abdominal MRI findings were consistent with iron accumulation in the liver and spleen. Clinical and radiological findings suggested the diagnosis of MPAN (mitochondrial membrane associated neurodegeneration) on this case but the genetic analysis could not be performed. Seizure control was achieved with levetiracetam and oral clonazepam and baclofen were the symptomatic treatment.

Conclusions: NBIA subtypes should be considered especially in young-adult patients presenting with extrapyramidal symptoms. Neuroimaging with quite characteristic findings is essential in the differential diagnosis of these patients. Molecular genetic testing to establish the diagnosis of subtypes should be performed for accurate diagnosis and to detect some other undefined mutations.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/neurodegeneration-with-brain-iron-accumulation-nbia-two-cases-with-different-subtypes-and-a-rare-mutation/