Seren AYDIN, Gökçen ÖZ TUNÇER, Özlem YAYICI KÖKEN, Büşranur ÇAVDARLI, İnci GÜNGÖR, Ayşe AKSOY

A Mutation in Neurodegeneration with Brain Iron Accumulation – Two Brothers Introduction: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is an inherited disorder caused by a mutation in the C19orf12 gene, characterized by basal ganglia involvement with various neurological and psychiatric symptoms. MPAN typically presents in childhood or adolescence with progressive dystonia-parkinsonism, optic atrophy, axonal motor neuronopathy, and iron accumulation in the globus pallidus and substantia nigra. Case Reports: Two brothers, 10 and 8.5 years old, who were born to healthy consanguineous parents, presented with neuropsychiatric findings, gait disturbance, and vision problems. Pes cavus, increased lower extremity deep tendon reflexes, optic atrophy, and neuropsychiatric findings were detected. In brain magnetic resonance imaging, there were signal changes due to iron accumulation in the bilateral substantia nigra, globus pallidus, red nucleus, and dentate nucleus. Same homozygous mutations in the C19orf12 gene were detected in next-generation sequencing and two siblings were diagnosed with MPAN. Conclusion: It is important to keep in mind MPAN in the differential diagnosis in patients with progressive psychiatric symptoms in early childhood, accompanying neurological problems. Iron accumulation in the basal ganglia should be evaluated for early-onset type.
Keywords: Iron accumulation; C19orf12; Mitochondrial membrane protein-associated neurodegeneration; Neurological and psychiatric

Seren AYDIN
Ondokuz Mayıs University, Faculty of Medicine
Turkey

Gökçen ÖZ TUNÇER
Ondokuz Mayıs University, Faculty of Medicine
Turkey

Özlem YAYICI KÖKEN
Ankara City Hospital
Turkey

Büşranur ÇAVDARLI
Ankara City Hospital
Turkey

İnci GÜNGÖR
Ondokuz Mayıs University, Faculty of Medicine
Turkey

Ayşe AKSOY
Ondokuz Mayıs University, Faculty of Medicine
Turkey