Clinical and MR findings

CaseAge at OnsetClinical FindingsLocation of MRI abnormalities
MedullaInferior Cerebellar PedunclesDentate NucleiMidbrainSubthalamic NucleiBasal Ganglia
Interpeduncular NucleusCentral Tegmental TractsSubstantia NigraPallido-cortical/Nigro-cortical Tracts
114 mNeurodevelopmental regression, hypotonia, absent deep tendon reflexes; weight, height, and head circumference < second centile; severe respiratory difficulties; blood lactate at rest: 58 mg/dL (normal 8–22 mg/dL); lactate/pyruvate ratio: 61.6 (normal 6–25); death at age 22 months from cardiorespiratory arrest;+++++
212 mFailure to thrive, neurodevelopmental regression, frequent vomiting, facial dysmorphism, hirsutism, hypotonia; blood lactate at rest: 32 mg/dL (normal 8–22 mg/dL); alive at age 3 years+(extending to cervical cord)++++
312 mFailure to thrive, neurodevelopmental delay; episodes of palpebral ptosis and impaired consciousness; facial dysmorphism, hirsutism, nystagmus, hypotonia, absent deep tendon reflexes, breathing abnormalities; blood lactate at rest: 42 mg/dL (normal 8–22 mg/dL); alive at age 4 years+++++++++
  • Note.—m, months; +, present; −, absent.