Introduction: Childhood NBIA has broad clinical and genetic heterogeneity. Pantothenate kinase-associated degeneration due to PKAN2 mutations account for 50% of childhood NBIA. 

Methods: This retrospective study from a single center analyzed patients genetically proved with PKAN2 mutations.

Results: Seven patients were diagnosed with PKAN2 mutations from 1995 to 2012. Four (57%) had classical presentation with mean symptoms’ onset at 5.5y; and three (43%) had late-onset disease with mean onset at 12.3y. The most common symptom at onset was dystonia in five of six patients (83.4%). Although patients tend to have fluctuating or focal dystonia, 100% quickly evolved to generalized dystonia. One patient was lost to follow up. Within the late-onset group, oromotor or tongue abnormalities were seen in three (100%) and parkinsonism in two (66.7%). Other movement disorders noticed were myoclonus, tremor, chorea, ballismus. Patients with classical presentation lost ambulation between 2–4 y, required G-tube between 3–4y, and died between 4–6y after disease onset. Clinical findings are summarized in table 1. Homozygous mutations were found in two patients, and they were more severely affected. Two patients the mutation at 1231G>A are still able to ambulate and feed orally. Only one patient presented with classical eye-tiger sign on MRI and four developed it subsequently (table 2). Substantia nigra (66.7%) and red nucleus (16.7%) were also affected.

Conclusions: Understanding the clinical course and prognosis of this rare is crucial to improve health care to affected children and their families. Although small, our study delineates clinical, genetic and radiological findings of this rare condition.