2.2 Patient B
An 11-year-old male who exhibited a history of gait difficulties, frequent falls and clumsiness was requited to this study. The proband (Shown in Figure 2) was the first child born to healthy consanguineous parents from Lorestan province, Iran. The proband was born naturally and delivery was uneventful. However, the mother had a miscarriage history, and she was pregnant for a male fetus at the time of the study. The process of the childhood development was remarkable, since the proband was able to hold his neck, sit, communicate and walk at the estimated time. By the age of 4 years, the first sign of the disorder appeared as he represented with lower limb spasticity and gait difficulties. The proband’s toes became spastic which led to fixed plantar flexion of the foot, indicating pes caus. Subsequently, he acquired motor difficulties including hyperreflexia, tremor and ataxia. Strabismus and poor vision were also observed in eye examination. The rapid progression of the disorder resulted in loss of previously acquired developmental milestones, leading to mild-sever cognitive decline, intellectual disability and progressive loss of ambulation. The family also complained about the proband’s urinary urgency. Electromyography (EMG) and nerve conduction velocity (NCV) evaluations of skeletal muscles at the age of five, presented no evidence of myopathy or peripheral neuropathy. The magnetic resonance imaging (MRI) of brain and spinal cord disclosed very mild abnormal signal intensity in centrum semiovale, suggesting leukoencephalopathy or periventricular leukomalacia (PVL) (shown in Figure 2). With this regard, clinical findings proposed mild spastic paraplegia.